| 1306796 | Enam | enamelin | ENCODES a protein that exhibits structural constituent of tooth enamel (ortholog); INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog) ; amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix (ortholog); INTERACTS WITH 17beta-estradiol; bisphenol A; cadmium dichloride | 14 | 19840773 | 19865476 | Rat | 46 | symbol , PhenoGen , name , description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1315614 | ENAM | enamelin | Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene encodes the largest protein in the enamel matrix of developing teeth. The protein is involved in the mineralization and structural organization of enamel. Defects in this gene result in amelogenesis imperfect type 1C.[provided by RefSeq, Oct 2009] | 4 | 70628744 | 70646824 | Human | 165 | symbol , COSMIC , name , description , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 1315615 | Enam | enamelin | A structural constituent of tooth enamel. Acts upstream of or within several processes, including ameloblast differentiation; amelogenesis; and positive regulation of enamel mineralization. Located in extracellular matrix. I s expressed in jaw. Used to study amelogenesis imperfecta type 1B. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1B and amelogenesis imperfecta type 1C. Orthologous to human ENAM (enamelin). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 88635834 | 88653908 | Mouse | 107 | symbol , PhenoGen , name , description | gene, protein-coding, VALIDATED [RefSeq] |
| 9044833 | Enam | enamelin | ENCODES a protein that exhibits structural constituent of tooth enamel (ortholog); INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog) ; amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix (ortholog) | NW_004955447 | 2331251 | 2345459 | Chinchilla | 16 | symbol , name , description | gene, protein-coding, MODEL [RefSeq] |
| 11755446 | ENAM | enamelin | ENCODES a protein that exhibits structural constituent of tooth enamel (inferred); INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog) ; amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix (inferred) | 4 | 53574316 | 53592465 | Bonobo | 19 | symbol , name , description | gene, protein-coding, MODEL [RefSeq] |
| 12050329 | ENAM | enamelin | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta; amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix (ortholog) | 13 | 59934299 | 59948279 | Dog | 21 | symbol , name | gene, protein-coding, MODEL [RefSeq] |
| 12699831 | Enam | enamelin | ENCODES a protein that exhibits structural constituent of tooth enamel (inferred); INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog) ; amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix (inferred) | NW_004936598 | 4118031 | 4132342 | Squirrel | 19 | symbol , name , description | gene, protein-coding, MODEL [RefSeq] |
| 14160706 | ENAM | enamelin | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix ( ortholog) | | | | Pig | 21 | symbol , name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18611928 | ENAM | enamelin | ENCODES a protein that exhibits structural constituent of tooth enamel (inferred); INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog) ; amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix (inferred) | | | | Green Monkey | 19 | symbol , name , description | gene, protein-coding, MODEL [RefSeq] |
| 18924223 | Enam | enamelin | ENCODES a protein that exhibits structural constituent of tooth enamel (inferred); INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog) ; amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix (inferred) | | | | Naked Mole-Rat | 19 | symbol , name , description | gene, protein-coding, MODEL [RefSeq] |
| 155240956 | enam | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 626081798 | Enam | enamelin | ENCODES a protein that exhibits structural constituent of tooth enamel (ortholog); INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog) ; amelogenesis imperfecta type 1B (ortholog); amelogenesis imperfecta type 1C (ortholog); FOUND IN extracellular matrix (ortholog) | | | | Black Rat | 16 | symbol , name , description | gene, protein-coding, MODEL [RefSeq] |
| 407987294 | enam.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 407987344 | enam.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 407987351 | enam.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 407987377 | enam.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 626468253 | enam.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 16571948 | ENAM-AS1 | ENAM and JCHAIN antisense RNA 1 | | | | | Human | | symbol , COSMIC , name , Human Proteome Map | gene, lncrna |
| 629021600 | ENAM-AS1 | ENAM and JCHAIN antisense RNA 1 | | | | | Human | | symbol , GTEx , COSMIC , name , Human Proteome Map | gene, ncrna |
| 10149 | Ambn | ameloblastin | This gene encodes an extracellular matrix glycoprotein that is involved in the formation of dental enamel. Mice lacking the encoded protein fail to undergo normal ameloblast differentiation and develop enamel. Mice overprodu cing the product of this gene develop thinner and more porous enamel, with disrupted rod patterns and abnormal crystallites. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014] | 5 | 88603850 | 88616390 | Mouse | 54 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1604908 | AMTN | amelotin | The mineralized portions of teeth, the dentin and enamel, are formed by mesenchyme-derived odontoblasts and epithelium-derived ameloblasts, respectively. As ameloblasts differentiate, they deposit specific proteins necessary for enam amel formation, including amelogenin (AMELX; MIM 300391), enamelin (ENAM; MIM 606585), and ameloblastin (AMBN; MIM 601259), in the organic enamel matrix. Amelotin is specifically expressed in maturation-stage ameloblasts (Iwasaki et al., 2005 [PubMed 16304441]).[supplied by OMIM, Mar 2008] | 4 | 70518569 | 70532743 | Human | 50 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1318676 | Mmp20 | matrix metallopeptidase 20 (enamelysin) | This gene encodes a member of the matrix metalloproteinase family of zinc-dependent endopeptidases capable of degrading extracellular matrix proteins. This gene is expressed specifically in the ameloblasts and odontoblasts, and the encoded protein is an inactive zymogen that requires proteolytic rem oval of a N-terminal propeptide to become enzymatically active. Mice lacking the encoded protein display an amelogenesis imperfecta phenotype. [provided by RefSeq, Oct 2015] | 9 | 7628232 | 7674969 | Mouse | 65 | old_gene_name , name | gene, protein-coding, REVIEWED [RefSeq] |
| 14241858 | MMP20 | matrix metallopeptidase 20 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); metalloendopeptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); extracellular matrix disassembly (ortholog); protein catabolic process (ortholog); ASSOCIATED WITH amelogenesis imperfecta hypom aturation type 2A2 (ortholog); amelogenesis imperfecta type 1C (ortholog); autosomal dominant intellectual developmental disorder 56 (ortholog); FOUND IN extracellular matrix (inferred) | | | | Pig | 25 | old_gene_name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 736409 | AMBN | ameloblastin | This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene clus ter on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011] | 4 | 70592256 | 70607288 | Human | 89 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 126925993 | Cftrem1Ang | cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang | ASSOCIATED WITH abnormal enamel development; abnormal olfactory epithelium physiology; decreased body weight; ASSOCIATED WITH cystic fibrosis; dental enamel hypoplasia | | | | Rat | 11 | description | gene, allele |
| 126925995 | Cftrem2Ang | cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang | ASSOCIATED WITH abnormal enamel development; abnormal olfactory epithelium physiology; absent vas deferens; ASSOCIATED WITH cystic fibrosis; dental enamel hypoplasia | | | | Rat | 12 | description | gene, allele |
| 1318675 | MMP20 | matrix metallopeptidase 20 | Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secrete d as inactive proproteins which are activated when cleaved by extracellular proteinases. The protein encoded by this gene degrades amelogenin, the major protein component of dental enamel matrix, and thus thought to play a role in tooth enamel formation. A mutation in this gene, which alters the normal splice pattern and results in premature termination of the encoded protein, has been associated with amelogenesis imperfecta. This gene is part of a cluster of MMP genes located on chromosome 11q22.3. [provided by RefSeq, Aug 2011] | 11 | 102576832 | 102625332 | Human | 71 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1604986 | ODAPH | odontogenesis associated phosphoprotein | Dental enamel forms the outer cap of teeth and is the hardest substance found in vertebrates. This gene is thought to encode an extracellular matrix acidic phosphoprotein that has a function in enamel mineralization during a melogenesis. Mutations in this gene are associated with recessive hypomineralized amelogenesis imperfecta. [provided by RefSeq, Oct 2012] | 4 | 75556066 | 75565893 | Human | 28 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1551322 | Klk4 | kallikrein related-peptidase 4 (prostase, enamel matrix, prostate) | Predicted to enable serine-type endopeptidase activity. Acts upstream of or within amelogenesis; extracellular matrix disassembly; and protein catabolic process. Predicted to be located in extracellular region. Predicted to be active in extracellular space and secretory granule. Is expressed in alim entary system; male reproductive gland or organ; and skin. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 2A1 and prostate cancer. Orthologous to human KLK4 (kallikrein related peptidase 4). [provided by Alliance of Genome Resources, Jul 2025] | 7 | 43530584 | 43535228 | Mouse | 68 | old_gene_name , name | gene, protein-coding, VALIDATED [RefSeq] |
| 735380 | Amelx | amelogenin, X-linked | Enables several functions, including growth factor activity; hydroxyapatite binding activity; and metal ion binding activity. Involved in cell adhesion; enamel mineralization; and regulation of cell population proliferation. Located in basement membrane; cell su rface; and supramolecular complex. Part of protein-containing complex. Is expressed in several structures, including connective tissue; eye; jaw; nervous system; and skeleton. Used to study amelogenesis imperfecta type 1E. Human ortholog(s) of this gene implicated in amelogenesis imperfecta and amelogenesis imperfecta type 1E. Orthologous to several human genes including AMELX (amelogenin X-linked). [provided by Alliance of Genome Resources, Apr 2025] | X | 167959110 | 167970205 | Mouse | 133 | old_gene_name , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1353266 | KLK4 | kallikrein related peptidase 4 | Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members l ocated in a cluster on chromosome 19. In some tissues its expression is hormonally regulated. The expression pattern of a similar mouse protein in murine developing teeth supports a role for the protein in the degradation of enamel proteins. Several transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Dec 2014] | 19 | 50906351 | 50911395 | Human | 82 | old_gene_name , description | gene, protein-coding, REVIEWED [RefSeq] |
| 1303228 | Klk4 | kallikrein-related peptidase 4 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); peptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); extracellular matrix disassembly (ortholog); ASSOCIATED WITH amelog enesis imperfecta (ortholog); amelogenesis imperfecta type 2A1 (ortholog); breast cancer (ortholog); FOUND IN extracellular region (inferred); INTERACTS WITH bisphenol A; Cuprizon; genistein | 1 | 103480731 | 103485963 | Rat | 61 | old_gene_name , description | gene, protein-coding, VALIDATED [RefSeq] |
| 13845608 | KLK4 | kallikrein related peptidase 4 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); peptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); extracellular matrix disassembly (ortholog); ASSOCIATED WITH amelog enesis imperfecta (ortholog); amelogenesis imperfecta type 2A1 (ortholog); breast cancer (ortholog); FOUND IN extracellular region (inferred) | | | | Pig | 33 | old_gene_name , description | gene, protein-coding, VALIDATED [RefSeq] |
| 8974484 | Ambn | ameloblastin | ENCODES a protein that exhibits growth factor activity (ortholog); INVOLVED IN cell adhesion (ortholog); regulation of cell population proliferation (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 1F (ortholog); BCARD syndrome (ortholog); osteoporosis-pseudoglioma syndrome (ortholog) | NW_004955447 | 2363240 | 2374827 | Chinchilla | 10 | old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 1308730 | Mmp20 | matrix metallopeptidase 20 | ENCODES a protein that exhibits metalloendopeptidase activity (ortholog); INVOLVED IN amelogenesis (ortholog); extracellular matrix disassembly (ortholog); protein catabolic process (ortholog); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A2 (ortholog); amelogenesis imperfecta type 1 C (ortholog); autosomal dominant intellectual developmental disorder 56 (ortholog); FOUND IN extracellular matrix (inferred); INTERACTS WITH 1-naphthyl isothiocyanate; 17beta-estradiol; acetamide | 8 | 13074279 | 13114894 | Rat | 46 | old_gene_name | gene, protein-coding, PROVISIONAL [RefSeq] |
| 12292767 | MMP20 | matrix metallopeptidase 20 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); metalloendopeptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); extracellular matrix disassembly (ortholog); protein catabolic process (ortholog); ASSOCIATED WITH amelogenesis imperfecta hypom aturation type 2A2 (ortholog); amelogenesis imperfecta type 1C (ortholog); autosomal dominant intellectual developmental disorder 56 (ortholog); FOUND IN extracellular matrix (inferred) | 5 | 29106717 | 29154628 | Dog | 25 | old_gene_name | gene, protein-coding, MODEL [RefSeq] |
| 1306718 | Adgrf2 | adhesion G protein-coupled receptor F2 | ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic diso rder (ortholog); FOUND IN membrane (inferred); INTERACTS WITH bisphenol A; lead diacetate; trichloroethene | 9 | 25735607 | 25745962 | Rat | 33 | description | gene, protein-coding, MODEL [RefSeq] |
| 9061525 | Adgrf2 | adhesion G protein-coupled receptor F2 | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic disorder (ortholog) | NW_004955437 | 12104938 | 12126649 | Chinchilla | 6 | description | gene, protein-coding, MODEL [RefSeq] |
| 12233051 | ADGRF2 | adhesion G protein-coupled receptor F2 | ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic diso rder (ortholog); FOUND IN membrane (inferred) | 12 | 15716866 | 15739690 | Dog | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 12647246 | Adgrf2 | adhesion G protein-coupled receptor F2 | ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic diso rder (ortholog); FOUND IN membrane (inferred) | NW_004936476 | 12836901 | 12857743 | Squirrel | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 14148268 | ADGRF2 | adhesion G protein-coupled receptor F2 | ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic diso rder (ortholog); FOUND IN membrane (inferred) | | | | Pig | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 18919414 | Adgrf2 | adhesion G protein-coupled receptor F2 | ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic diso rder (ortholog); FOUND IN membrane (inferred) | | | | Naked Mole-Rat | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 625965654 | Adgrf2 | adhesion G protein-coupled receptor F2 | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic disorder (ortholog) | | | | Black Rat | 6 | description | gene, protein-coding, MODEL [RefSeq] |
| 11784439 | AMBN | ameloblastin | ENCODES a protein that exhibits growth factor activity (inferred); structural constituent of tooth enamel (inferred); INVOLVED IN regulation of cell population proliferation (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 1F (ortholog); BCARD syndrome ( ortholog); osteoporosis-pseudoglioma syndrome (ortholog) | 4 | 53616553 | 53631566 | Bonobo | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 12264726 | AMBN | ameloblastin | ENCODES a protein that exhibits structural constituent of tooth enamel (inferred); INVOLVED IN regulation of cell population proliferation (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 1F (ortholog); BCARD syndrome (ortholog); osteoporosis-pseudogliom a syndrome (ortholog) | 13 | 59899968 | 59912699 | Dog | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 12541806 | Ambn | ameloblastin | ENCODES a protein that exhibits growth factor activity (inferred); structural constituent of tooth enamel (inferred); INVOLVED IN regulation of cell population proliferation (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 1F (ortholog); BCARD syndrome ( ortholog); osteoporosis-pseudoglioma syndrome (ortholog) | NW_004936598 | 4154801 | 4166565 | Squirrel | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 14255442 | AMBN | ameloblastin | ENCODES a protein that exhibits structural constituent of tooth enamel (inferred); INVOLVED IN regulation of cell population proliferation (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 1F (ortholog); BCARD syndrome (ortholog); osteoporosis-pseudogliom a syndrome (ortholog) | | | | Pig | 14 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18505382 | AMBN | ameloblastin | ENCODES a protein that exhibits growth factor activity (inferred); structural constituent of tooth enamel (inferred); INVOLVED IN regulation of cell population proliferation (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 1F (ortholog); BCARD syndrome ( ortholog); osteoporosis-pseudoglioma syndrome (ortholog) | | | | Green Monkey | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 18930589 | Ambn | ameloblastin | ENCODES a protein that exhibits growth factor activity (inferred); structural constituent of tooth enamel (inferred); INVOLVED IN regulation of cell population proliferation (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 1F (ortholog); BCARD syndrome ( ortholog); osteoporosis-pseudoglioma syndrome (ortholog) | | | | Naked Mole-Rat | 14 | description | gene, protein-coding, MODEL [RefSeq] |
| 2107 | Amelx | amelogenin, X-linked | ENCODES a protein that exhibits identical protein binding; structural constituent of tooth enamel; calcium ion binding (ortholog); INVOLVED IN response to calcium ion; response to nutrient; response to xenobiotic stimulus; ASSOCIATED WITH autosomal dominant hypo calcemia; amelogenesis imperfecta (ortholog); amelogenesis imperfecta type 1E (ortholog); FOUND IN endocytic vesicle; basement membrane (ortholog); cell surface (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 17beta-estradiol; 6-propyl-2-thiouracil | X | 28648803 | 28660099 | Rat | 85 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 735379 | AMELX | amelogenin X-linked | This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in this gene cause X-linked amelogenesis imperfecta. Alternative splicing results in mu ltiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] | X | 11293413 | 11309588 | Human | 89 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 8927324 | Amelx | amelogenin X-linked | ENCODES a protein that exhibits calcium ion binding (ortholog); growth factor activity (ortholog); hydroxyapatite binding (ortholog); INVOLVED IN amelogenesis (ortholog); cell adhesion (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis im perfecta (ortholog); amelogenesis imperfecta type 1E (ortholog); autosomal dominant hypocalcemia (ortholog); FOUND IN basement membrane (ortholog); cell surface (ortholog); endocytic vesicle (ortholog) | NW_004955544 | 1974889 | 1979063 | Chinchilla | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 12591208 | Amelx | amelogenin X-linked | ENCODES a protein that exhibits identical protein binding (ortholog); structural constituent of tooth enamel (ortholog); INVOLVED IN response to calcium ion (ortholog); response to nutrient (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta type 1E (ortholog); autosomal dominant hypocalcemia (ortholog); FOUND IN endocytic vesicle (ortholog) | NW_004936470 | 1169906 | 1174166 | Squirrel | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 14274300 | AMELX | amelogenin X-linked | ENCODES a protein that exhibits calcium ion binding; identical protein binding; growth factor activity (ortholog); INVOLVED IN enamel mineralization; amelogenesis (ortholog); cell adhesion (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogene sis imperfecta type 1E (ortholog); autosomal dominant hypocalcemia (ortholog); FOUND IN basement membrane (ortholog); cell surface (ortholog); endocytic vesicle (ortholog) | | | | Pig | 35 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18502563 | AMELX | amelogenin X-linked | ENCODES a protein that exhibits identical protein binding (ortholog); structural constituent of tooth enamel (ortholog); INVOLVED IN response to calcium ion (ortholog); response to nutrient (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta type 1E (ortholog); autosomal dominant hypocalcemia (ortholog); FOUND IN endocytic vesicle (ortholog) | | | | Green Monkey | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 626066053 | Amelx | amelogenin X-linked | ENCODES a protein that exhibits calcium ion binding (ortholog); growth factor activity (ortholog); hydroxyapatite binding (ortholog); INVOLVED IN amelogenesis (ortholog); cell adhesion (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis im perfecta (ortholog); amelogenesis imperfecta type 1E (ortholog); autosomal dominant hypocalcemia (ortholog); FOUND IN basement membrane (ortholog); cell surface (ortholog); endocytic vesicle (ortholog) | | | | Black Rat | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 1343944 | AMELY | amelogenin Y-linked | This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta. [provided by RefSeq, Jul 2008] | Y | 6865918 | 6911752 | Human | 16 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 11840196 | AMELY | amelogenin Y-linked | ENCODES a protein that exhibits calcium ion binding (ortholog); growth factor activity (ortholog); hydroxyapatite binding (ortholog); INVOLVED IN amelogenesis (ortholog); cell adhesion (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis im perfecta type 1E (ortholog); autosomal dominant hypocalcemia (ortholog); male infertility (ortholog); FOUND IN basement membrane (ortholog); cell surface (ortholog); endocytic vesicle (ortholog) | X | 3898819 | 3930686 | Bonobo | 34 | description | gene, protein-coding, MODEL [RefSeq] |
| 1592356 | Amtn | amelotin | INVOLVED IN odontogenesis of dentin-containing tooth; amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); amelogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane; cell-cell junctio n; extracellular matrix; INTERACTS WITH 17beta-estradiol; bisphenol A; cadmium dichloride | 14 | 19932664 | 19945223 | Rat | 49 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1614326 | Amtn | amelotin | Involved in odontogenesis of dentin-containing tooth and positive regulation of enamel mineralization. Located in basement membrane and cell-cell junction. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 3B. Orthologous to human AMTN (a melotin). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 88523967 | 88533775 | Mouse | 57 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8843566 | Amtn | amelotin | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); amelogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane (orthol og); cell-cell junction (ortholog); extracellular matrix (ortholog) | NW_004955447 | 2422189 | 2433633 | Chinchilla | 20 | description | gene, protein-coding, MODEL [RefSeq] |
| 11684551 | AMTN | amelotin | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); amelogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane (inferred); cell-cell junction (inferred); extracellular mat rix (inferred) | 4 | 53691674 | 53705831 | Bonobo | 21 | description | gene, protein-coding, MODEL [RefSeq] |
| 12072321 | AMTN | amelotin | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); amelogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane (inferred); cell-cell junction (inferred); extracellular mat rix (inferred) | 13 | 59855278 | 59867133 | Dog | 21 | description | gene, protein-coding, MODEL [RefSeq] |
| 12603978 | Amtn | amelotin | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); amelogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane (inferred); cell-cell junction (inferred); extracellular mat rix (inferred) | NW_004936598 | 4204094 | 4210492 | Squirrel | 21 | description | gene, protein-coding, MODEL [RefSeq] |
| 13861230 | AMTN | amelotin | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); amelogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane (inferred); cell-cell junction (inferred); extracellular mat rix (inferred) | | | | Pig | 21 | description | gene, protein-coding, MODEL [RefSeq] |
| 18757873 | AMTN | amelotin | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); amelogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane (orthol og); cell-cell junction (ortholog); extracellular matrix (ortholog) | | | | Green Monkey | 20 | description | gene, protein-coding, MODEL [RefSeq] |
| 18932393 | Amtn | amelotin | ENCODES a protein that exhibits nucleic acid binding (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); positive regulation of biomineral tissue development (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); a melogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane (ortholog); cell-cell junction (ortholog); extracellular matrix (ortholog) | | | | Naked Mole-Rat | 19 | description | gene, protein-coding, MODEL [RefSeq] |
| 625835821 | Amtn | amelotin | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); odontogenesis of dentin-containing tooth (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 3A (ortholog); amelogenesis imperfecta type 3B (ortholog); FOUND IN basement membrane (orthol og); cell-cell junction (ortholog); extracellular matrix (ortholog) | | | | Black Rat | 20 | description | gene, protein-coding, MODEL [RefSeq] |
| 2332 | Cftr | CF transmembrane conductance regulator | ENCODES a protein that exhibits 14-3-3 protein binding (ortholog); ATP hydrolysis activity (ortholog); bicarbonate transmembrane transporter activity (ortholog); INVOLVED IN bicarbonate transport; cellular response to anoxia; cellular response to heat; PARTICIPATES IN bile acid transport pathway; AS SOCIATED WITH abnormal chloride level; abnormal circulating protein level; abnormal enamel development; ASSOCIATED WITH autosomal recessive polycystic kidney disease; cholestasis; congenital bilateral absence of vas deferens; FOUND IN apical plasma membrane; basolateral plasma membrane; dendrite; INTERACTS WITH 17beta-estradiol; 3',5'-cyclic AMP; 3-isobutyl-1-methyl-7H-xanthine | 4 | 47422084 | 47694646 | Rat | 773 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1305571 | Cnnm4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (ortholog); sodium ion transmembrane transporter activity (ortholog); INVOLVED IN enamel mineralization (ortholog); intracellular monoatomic cation homeostasis (ortholog); magnesium ion homeostasis (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN dendrite; neuronal cell body; basolateral plasma membrane (ortholog); INTERACTS WITH 3-chloropropane-1,2-diol; acrylamide; bisphenol A | 9 | 46207602 | 46246817 | Rat | 108 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1313680 | Cnnm4 | cyclin M4 | Enables magnesium ion transmembrane transporter activity and sodium ion transmembrane transporter activity. Acts upstream of or within enamel mineralization; magnesium ion homeostasis; and magnesium ion transport. Located in basolateral plasma membrane. Is expre ssed in colon and metanephros. Human ortholog(s) of this gene implicated in Jalili syndrome. Orthologous to human CNNM4 (cyclin and CBS domain divalent metal cation transport mediator 4). [provided by Alliance of Genome Resources, Jul 2025] | 1 | 36510678 | 36547857 | Mouse | 111 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8995988 | Cnnm4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (ortholog); sodium ion transmembrane transporter activity (ortholog); INVOLVED IN enamel mineralization (ortholog); intracellular monoatomic cation homeostasis (ortholog); magnesium ion homeostasis (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN basolateral plasma membrane (ortholog); dendrite (ortholog); neuronal cell body (ortholog) | NW_004955470 | 4131348 | 4177172 | Chinchilla | 19 | description | gene, protein-coding, MODEL [RefSeq] |
| 11922291 | CNNM4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); sodium ion transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN enamel mineralization (ortholog); magnesium ion home ostasis (ortholog); magnesium ion transport (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN dendrite (ortholog); neuronal cell body (ortholog) | 2A | 102503084 | 102553029 | Bonobo | 33 | description | gene, protein-coding, MODEL [RefSeq] |
| 12318329 | CNNM4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); sodium ion transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN enamel mineralization (ortholog); magnesium ion home ostasis (ortholog); magnesium ion transport (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN dendrite (ortholog); neuronal cell body (ortholog) | 10 | 45157418 | 45197323 | Dog | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 12521674 | Cnnm4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); sodium ion transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN enamel mineralization (ortholog); magnesium ion home ostasis (ortholog); magnesium ion transport (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN dendrite (ortholog); neuronal cell body (ortholog) | NW_004936744 | 715523 | 754148 | Squirrel | 33 | description | gene, protein-coding, MODEL [RefSeq] |
| 14099121 | CNNM4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); sodium ion transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN enamel mineralization (ortholog); magnesium ion home ostasis (ortholog); magnesium ion transport (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN dendrite (ortholog); neuronal cell body (ortholog) | | | | Pig | 32 | description | gene, protein-coding, MODEL [RefSeq] |
| 18519975 | CNNM4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); sodium ion transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN enamel mineralization (ortholog); magnesium ion home ostasis (ortholog); magnesium ion transport (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN dendrite (ortholog); neuronal cell body (ortholog) | | | | Green Monkey | 33 | description | gene, protein-coding, MODEL [RefSeq] |
| 18914814 | Cnnm4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (inferred); sodium ion transmembrane transporter activity (inferred); transmembrane transporter activity (inferred); INVOLVED IN enamel mineralization (ortholog); intracellular mono atomic cation homeostasis (ortholog); magnesium ion homeostasis (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN basolateral plasma membrane (ortholog); dendrite (ortholog); neuronal cell body (ortholog) | | | | Naked Mole-Rat | 30 | description | gene, protein-coding, MODEL [RefSeq] |
| 625985783 | Cnnm4 | cyclin and CBS domain divalent metal cation transport mediator 4 | ENCODES a protein that exhibits magnesium ion transmembrane transporter activity (ortholog); sodium ion transmembrane transporter activity (ortholog); INVOLVED IN enamel mineralization (ortholog); intracellular monoatomic cation homeostasis (ortholog); magnesium ion homeostasis (ortholog); ASSOCIATED WITH Amaurosis Hypertrichosis (ortholog); fundus dystrophy (ortholog); genetic disease (ortholog); FOUND IN basolateral plasma membrane (ortholog); dendrite (ortholog); neuronal cell body (ortholog) | | | | Black Rat | 19 | description | gene, protein-coding, MODEL [RefSeq] |
| 2441 | Ctbp1 | C-terminal binding protein 1 | ENCODES a protein that exhibits NAD binding; PDZ domain binding; protein homodimerization activity; INVOLVED IN presynapse to nucleus signaling pathway; negative regulation of DNA-templated transcription (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); PARTICIPATES I N Notch signaling pathway; chronic myeloid leukemia pathway; Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm; extrinsic component of presynaptic endocytic zone membrane; glutamatergic synapse; INTERACTS WITH 2,6-dinitrotoluene; 3H-1,2-dithiole-3-thione; 6-propyl-2-thiouracil | 14 | 81679956 | 81707331 | Rat | 199 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 8775760 | Ctbp1 | C-terminal binding protein 1 | ENCODES a protein that exhibits chromatin binding (ortholog); DNA-binding transcription factor binding (ortholog); identical protein binding (ortholog); INVOLVED IN negative regulation of DNA-templated transcription (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); No tch signaling pathway (ortholog); PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm (ortholog); extrinsic component of presynaptic endocytic zone membrane (ortholog); GABA-ergic synapse (ortholog) | NW_004955514 | 630168 | 652817 | Chinchilla | 92 | description | gene, protein-coding, MODEL [RefSeq] |
| 11791927 | CTBP1 | C-terminal binding protein 1 | ENCODES a protein that exhibits chromatin binding (ortholog); lncRNA binding (ortholog); PDZ domain binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); Notch signaling pathway (ortholog); presynapse to nucleus signaling pathway (ortholog); PARTICIPAT ES IN Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm (ortholog); extrinsic component of presynaptic endocytic zone membrane (ortholog); GABA-ergic synapse (ortholog) | 4 | 1354806 | 1393244 | Bonobo | 97 | description | gene, protein-coding, MODEL [RefSeq] |
| 12420669 | CTBP1 | C-terminal binding protein 1 | ENCODES a protein that exhibits chromatin binding (ortholog); identical protein binding (ortholog); lncRNA binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); Notch signaling pathway (ortholog); presynapse to nucleus signaling pathway (ortholog); PAR TICIPATES IN Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm (ortholog); extrinsic component of presynaptic endocytic zone membrane (ortholog); GABA-ergic synapse (ortholog) | 3 | 91385733 | 91400252 | Dog | 96 | description | gene, protein-coding, MODEL [RefSeq] |
| 12605158 | Ctbp1 | C-terminal binding protein 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); Notch signaling pathway (ortholog); presynapse to nucleus signaling pathway (ortholog); PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm (ortholog); extrinsic component of presynaptic endocytic zone membrane (ortholog) | NW_004936477 | 22032712 | 22055160 | Squirrel | 96 | description | gene, protein-coding, MODEL [RefSeq] |
| 14252430 | CTBP1 | C-terminal binding protein 1 | ENCODES a protein that exhibits chromatin binding (ortholog); lncRNA binding (ortholog); PDZ domain binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); Notch signaling pathway (ortholog); presynapse to nucleus signaling pathway (ortholog); PARTICIPAT ES IN Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm (ortholog); extrinsic component of presynaptic endocytic zone membrane (ortholog); GABA-ergic synapse (ortholog) | | | | Pig | 97 | description | gene, protein-coding, MODEL [RefSeq] |
| 18386608 | CTBP1 | C-terminal binding protein 1 | ENCODES a protein that exhibits PDZ domain binding (ortholog); protein homodimerization activity (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); Notch signaling pathway (ortholog); presynapse to nucleus signaling pathway (ortholog); PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm (ortholog); extrinsic component of presynaptic endocytic zone membrane (ortholog) | | | | Green Monkey | 95 | description | gene, protein-coding, MODEL [RefSeq] |
| 18912536 | Ctbp1 | C-terminal binding protein 1 | ENCODES a protein that exhibits chromatin binding (ortholog); identical protein binding (ortholog); lncRNA binding (ortholog); INVOLVED IN negative regulation of transcription by RNA polymerase II (ortholog); Notch signaling pathway (ortholog); presynapse to nucleus signaling pathway (ortholog); PAR TICIPATES IN Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm (ortholog); extrinsic component of presynaptic endocytic zone membrane (ortholog); GABA-ergic synapse (ortholog) | | | | Naked Mole-Rat | 96 | description | gene, protein-coding, MODEL [RefSeq] |
| 625854094 | Ctbp1 | C-terminal binding protein 1 | ENCODES a protein that exhibits chromatin binding (ortholog); DNA-binding transcription factor binding (ortholog); identical protein binding (ortholog); INVOLVED IN negative regulation of DNA-templated transcription (ortholog); negative regulation of transcription by RNA polymerase II (ortholog); No tch signaling pathway (ortholog); PARTICIPATES IN Notch signaling pathway; ASSOCIATED WITH Colorectal Neoplasms (ortholog); genetic disease (ortholog); HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (ortholog); FOUND IN cytoplasm (ortholog); extrinsic component of presynaptic endocytic zone membrane (ortholog); GABA-ergic synapse (ortholog) | | | | Black Rat | 92 | description | gene, protein-coding, MODEL [RefSeq] |
| 2508 | Dmp1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits Hsp70 protein binding; calcium ion binding (ortholog); extracellular matrix binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enam >el mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); extracellular matrix (ortholog); nucleus (ortholog); INTERACTS WITH 6-propyl-2-thiouracil; ammonium chloride; bisphenol A | 14 | 5833111 | 5867154 | Rat | 83 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 736577 | Dmp1 | dentin matrix protein 1 | Enables extracellular matrix binding activity. Acts upstream of or within extracellular matrix organization; positive regulation of cell-substrate adhesion; and regulation of enamel mineralization. Located in cytoplasm; extracellular matrix; and nucleus. Is expr essed in several structures, including alimentary system; bone; genitourinary system; limb; and nervous system. Used to study autosomal recessive hypophosphatemic rickets. Orthologous to human DMP1 (dentin matrix acidic phosphoprotein 1). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 104345441 | 104361968 | Mouse | 158 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8843157 | Dmp1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits calcium ion binding (ortholog); extracellular matrix binding (ortholog); Hsp70 protein binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enam >enamel mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); extracellular matrix (ortholog); nucleus (ortholog) | NW_004955474 | 2188090 | 2200284 | Chinchilla | 15 | description | gene, protein-coding, MODEL [RefSeq] |
| 11974153 | DMP1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits calcium ion binding (ortholog); Hsp70 protein binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enamel mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); extracellular matrix (inferred); nucleus (inferred) | 4 | 79943709 | 79957430 | Bonobo | 20 | description | gene, protein-coding, MODEL [RefSeq] |
| 12382461 | DMP1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits calcium ion binding (ortholog); Hsp70 protein binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enamel mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); extracellular matrix (inferred); nucleus (inferred) | 32 | 11022900 | 11053900 | Dog | 20 | description | gene, protein-coding, MODEL [RefSeq] |
| 12692910 | Dmp1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits calcium ion binding (ortholog); Hsp70 protein binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enamel mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); extracellular matrix (inferred); nucleus (inferred) | NW_004936905 | 419478 | 427335 | Squirrel | 21 | description | gene, protein-coding, MODEL [RefSeq] |
| 14103887 | DMP1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits calcium ion binding (ortholog); Hsp70 protein binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enamel mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); extracellular matrix (inferred); nucleus (inferred) | | | | Pig | 20 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18562134 | DMP1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits calcium ion binding (ortholog); Hsp70 protein binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enamel mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (inferred); extracellular matrix (inferred); nucleus (inferred) | | | | Green Monkey | 20 | description | gene, protein-coding, MODEL [RefSeq] |
| 18913322 | Dmp1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits calcium ion binding (ortholog); Hsp70 protein binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enamel mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); nucleus (ortholog) | | | | Naked Mole-Rat | 18 | description | gene, protein-coding, MODEL [RefSeq] |
| 626003476 | Dmp1 | dentin matrix acidic phosphoprotein 1 | ENCODES a protein that exhibits calcium ion binding (ortholog); extracellular matrix binding (ortholog); Hsp70 protein binding (ortholog); INVOLVED IN extracellular matrix organization (ortholog); positive regulation of cell-substrate adhesion (ortholog); regulation of enam >enamel mineralization (ortholog); ASSOCIATED WITH autosomal recessive hypophosphatemic rickets (ortholog); Desbuquois dysplasia (ortholog); genetic disease (ortholog); FOUND IN cytoplasm (ortholog); extracellular matrix (ortholog); nucleus (ortholog) | | | | Black Rat | 15 | description | gene, protein-coding, MODEL [RefSeq] |
| 1306364 | Fam20a | FAM20A, golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activator activity (ortholog); protein serine/threonine kinase activity (ortholog); INVOLVED IN biomineral tissue development (ortholog); calcium ion homeostasis (ortholog); enamel mineralization (o rtholog); ASSOCIATED WITH amelogenesis imperfecta type 1G (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); extracellular space (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 6-propyl-2-thiouracil; aflatoxin B1 | 10 | 95136799 | 95197176 | Rat | 133 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1314940 | Fam20a | FAM20A, golgi associated secretory pathway pseudokinase | Predicted to enable protein serine/threonine kinase activator activity. Involved in positive regulation of protein phosphorylation. Acts upstream of or within enamel mineralization and response to bacterium. Located in Golgi apparatus and endoplasmic reticulum. Is expressed in several structures, including adipose tissue; alimentary system; central nervous system; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1G. Orthologous to human FAM20A (FAM20A golgi associated secretory pathway pseudokinase). [provided by Alliance of Genome Resources, Jul 2025] | 11 | 109563752 | 109613989 | Mouse | 155 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 9019659 | Fam20a | FAM20A golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activator activity (ortholog); protein serine/threonine kinase activity (ortholog); INVOLVED IN biomineral tissue development (ortholog); calcium ion homeostasis (ortholog); enamel mineralization (o rtholog); ASSOCIATED WITH amelogenesis imperfecta type 1G (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); extracellular space (ortholog) | NW_004955478 | 4182568 | 4236819 | Chinchilla | 21 | description | gene, protein-coding, MODEL [RefSeq] |
| 11865837 | FAM20A | FAM20A golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN enamel mineralization (ortholog); positive regulation of protein phosphorylation (ortholog); response to bacterium (ortholog); ASSOCIATED WITH amelogenesis imperfect a type 1G (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (inferred); endoplasmic reticulum (inferred); extracellular space (inferred) | 17 | 62474317 | 62537800 | Bonobo | 27 | description | gene, protein-coding, MODEL [RefSeq] |
| 12427477 | FAM20A | FAM20A golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN enamel mineralization (ortholog); positive regulation of protein phosphorylation (ortholog); response to bacterium (ortholog); ASSOCIATED WITH amelogenesis imperfect a type 1G (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (inferred); endoplasmic reticulum (inferred); extracellular space (inferred) | 9 | 15205887 | 15218873 | Dog | 29 | description | gene, protein-coding, MODEL [RefSeq] |
| 12454120 | Fam20a | FAM20A golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN enamel mineralization (ortholog); positive regulation of protein phosphorylation (ortholog); response to bacterium (ortholog); ASSOCIATED WITH amelogenesis imperfect a type 1G (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (inferred); endoplasmic reticulum (inferred); extracellular space (inferred) | NW_004936541 | 7867856 | 7916145 | Squirrel | 27 | description | gene, protein-coding, MODEL [RefSeq] |
| 14017018 | FAM20A | FAM20A golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN enamel mineralization (ortholog); positive regulation of protein phosphorylation (ortholog); response to bacterium (ortholog); ASSOCIATED WITH amelogenesis imperfect a type 1G (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (inferred); endoplasmic reticulum (inferred); extracellular space (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 31 | description | gene, protein-coding, MODEL [RefSeq] |
| 18413262 | FAM20A | FAM20A golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN enamel mineralization (ortholog); positive regulation of protein phosphorylation (ortholog); response to bacterium (ortholog); ASSOCIATED WITH amelogenesis imperfect a type 1G (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (inferred); endoplasmic reticulum (inferred); extracellular space (inferred) | | | | Green Monkey | 27 | description | gene, protein-coding, MODEL [RefSeq] |
| 18926146 | Fam20a | FAM20A golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN biomineral tissue development (ortholog); calcium ion homeostasis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta type 1G (orth olog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); extracellular space (ortholog) | | | | Naked Mole-Rat | 24 | description | gene, protein-coding, MODEL [RefSeq] |
| 626129377 | Fam20a | FAM20A golgi associated secretory pathway pseudokinase | ENCODES a protein that exhibits protein serine/threonine kinase activator activity (ortholog); protein serine/threonine kinase activity (ortholog); INVOLVED IN biomineral tissue development (ortholog); calcium ion homeostasis (ortholog); enamel mineralization (o rtholog); ASSOCIATED WITH amelogenesis imperfecta type 1G (ortholog); genetic disease (ortholog); Hereditary Neoplastic Syndromes (ortholog); FOUND IN cytoplasm (ortholog); endoplasmic reticulum (ortholog); extracellular space (ortholog) | | | | Black Rat | 21 | description | gene, protein-coding, MODEL [RefSeq] |
| 9034808 | Fam20c | FAM20C golgi associated secretory pathway kinase | ENCODES a protein that exhibits calcium ion binding (ortholog); manganese ion binding (ortholog); protease binding (ortholog); INVOLVED IN biomineral tissue development (ortholog); dentinogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amel ogenesis imperfecta (ortholog); COVID-19 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasm (ortholog); extracellular space (ortholog); Golgi apparatus (ortholog) | NW_004955460 | 8142325 | 8192044 | Chinchilla | 46 | description | gene, protein-coding, MODEL [RefSeq] |
| 11955703 | FAM20C | FAM20C golgi associated secretory pathway kinase | ENCODES a protein that exhibits calcium ion binding (ortholog); manganese ion binding (ortholog); protease binding (ortholog); INVOLVED IN biomineral tissue development (ortholog); dentinogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amel ogenesis imperfecta (ortholog); COVID-19 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasm (ortholog); extracellular space (ortholog); Golgi membrane (ortholog) | 7 | 311468 | 394623 | Bonobo | 50 | description | gene, protein-coding, MODEL [RefSeq] |
| 12432310 | FAM20C | FAM20C golgi associated secretory pathway kinase | ENCODES a protein that exhibits calcium ion binding (ortholog); manganese ion binding (ortholog); protease binding (ortholog); INVOLVED IN biomineral tissue development (ortholog); dentinogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amel ogenesis imperfecta; COVID-19 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasm (ortholog); extracellular space (ortholog); Golgi membrane (ortholog) | 6 | 16448603 | 16497064 | Dog | 48 | description | gene, protein-coding, MODEL [RefSeq] |
| 12655207 | Fam20c | FAM20C golgi associated secretory pathway kinase | ENCODES a protein that exhibits protein serine/threonine kinase activity (ortholog); INVOLVED IN dentinogenesis (ortholog); enamel mineralization (ortholog); odontoblast differentiation (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); COVID-19 (or tholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasm (inferred); extracellular space (inferred); Golgi apparatus (inferred) | NW_004936754 | 596878 | 649585 | Squirrel | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 14262154 | FAM20C | FAM20C golgi associated secretory pathway kinase | ENCODES a protein that exhibits calcium ion binding (ortholog); protein serine/threonine kinase activity (ortholog); INVOLVED IN dentinogenesis (ortholog); enamel mineralization (ortholog); odontoblast differentiation (ortholog); ASSOCIATED WITH amelogenesis imp erfecta (ortholog); COVID-19 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasm (ortholog); INTERACTS WITH deoxynivalenol | | | | Pig | 54 | description | gene, protein-coding, MODEL [RefSeq] |
| 18649872 | FAM20C | FAM20C golgi associated secretory pathway kinase | ENCODES a protein that exhibits calcium ion binding (ortholog); protein serine/threonine kinase activity (ortholog); INVOLVED IN dentinogenesis (ortholog); enamel mineralization (ortholog); odontoblast differentiation (ortholog); ASSOCIATED WITH amelogenesis imp erfecta (ortholog); COVID-19 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasm (ortholog) | | | | Green Monkey | 51 | description | gene, protein-coding, MODEL [RefSeq] |
| 18919093 | Fam20c | FAM20C golgi associated secretory pathway kinase | ENCODES a protein that exhibits manganese ion binding (ortholog); protease binding (ortholog); protein kinase activity (ortholog); INVOLVED IN biomineral tissue development (ortholog); dentinogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); COVID-19 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN Golgi membrane (ortholog) | | | | Naked Mole-Rat | 53 | description | gene, protein-coding, MODEL [RefSeq] |
| 625932519 | Fam20c | FAM20C golgi associated secretory pathway kinase | ENCODES a protein that exhibits calcium ion binding (ortholog); manganese ion binding (ortholog); protease binding (ortholog); INVOLVED IN biomineral tissue development (ortholog); dentinogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amel ogenesis imperfecta (ortholog); COVID-19 (ortholog); Desbuquois dysplasia (ortholog); FOUND IN cytoplasm (ortholog); extracellular space (ortholog); Golgi apparatus (ortholog) | | | | Black Rat | 46 | description | gene, protein-coding, MODEL [RefSeq] |
| 1603342 | FAM83H | family with sequence similarity 83 member H | The protein encoded by this gene plays an important role in the structural development and calcification of tooth enamel. Defects in this gene are a cause of amelogenesis imperfecta type 3 (AI3). [provided by RefSeq, Mar 2010] | 8 | 143723933 | 143733779 | Human | 126 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 2628 | Fosl2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits DNA binding; DNA-binding transcription factor activity; double-stranded DNA binding; INVOLVED IN circadian rhythm; conditioned taste aversion; female pregnancy; ASSOCIATED WITH renal carcinoma; Reperfusion Injury; APLASIA CUTIS-ENAM n>EL DYSPLASIA SYNDROME (ortholog); FOUND IN nucleoplasm (ortholog); nucleus (ortholog); transcription factor AP-1 complex (ortholog); INTERACTS WITH 17alpha-ethynylestradiol; 17beta-estradiol; 17beta-estradiol 3-benzoate | 6 | 30017952 | 30039269 | Rat | 348 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8748904 | Fosl2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits chromatin binding (ortholog); DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (ortholog); colon adenocarcinoma (ortholog); colorectal cancer (ortholog); FOUND IN nucleoplasm (ortholog); nucleus (ortholog); transcription factor AP-1 complex (ortholog) | NW_004955469 | 10297179 | 10319180 | Chinchilla | 133 | description | gene, protein-coding, MODEL [RefSeq] |
| 11691152 | FOSL2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription factor activity (ortholog); double-stranded DNA binding (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH APLA SIA CUTIS-ENAMEL DYSPLASIA SYNDROME (ortholog); colon adenocarcinoma (ortholog); colorectal cancer (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred); transcription factor AP-1 complex (inferred) | 2A | 28392328 | 28416838 | Bonobo | 140 | description | gene, protein-coding, MODEL [RefSeq] |
| 12212417 | FOSL2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription factor activity (ortholog); double-stranded DNA binding (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH APLA SIA CUTIS-ENAMEL DYSPLASIA SYNDROME (ortholog); colon adenocarcinoma (ortholog); colorectal cancer (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred); transcription factor AP-1 complex (inferred) | 17 | 22340469 | 22364994 | Dog | 141 | description | gene, protein-coding, MODEL [RefSeq] |
| 12559718 | Fosl2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription factor activity (ortholog); double-stranded DNA binding (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH APLA SIA CUTIS-ENAMEL DYSPLASIA SYNDROME (ortholog); colon adenocarcinoma (ortholog); colorectal cancer (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred); transcription factor AP-1 complex (inferred) | NW_004936493 | 4308683 | 4327102 | Squirrel | 141 | description | gene, protein-coding, MODEL [RefSeq] |
| 14035129 | FOSL2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription factor activity (ortholog); double-stranded DNA binding (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH APLA SIA CUTIS-ENAMEL DYSPLASIA SYNDROME (ortholog); colon adenocarcinoma (ortholog); colorectal cancer (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred); transcription factor AP-1 complex (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 142 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18591518 | FOSL2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits DNA binding (ortholog); DNA-binding transcription factor activity (ortholog); double-stranded DNA binding (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH APLA SIA CUTIS-ENAMEL DYSPLASIA SYNDROME (ortholog); colon adenocarcinoma (ortholog); colorectal cancer (ortholog); FOUND IN nucleoplasm (inferred); nucleus (inferred); transcription factor AP-1 complex (inferred) | | | | Green Monkey | 143 | description | gene, protein-coding, MODEL [RefSeq] |
| 18916966 | Fosl2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits chromatin binding (ortholog); DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (ortholog); colon adenocarcinoma (ortholog); colorectal cancer (ortholog); FOUND IN nucleoplasm (ortholog); transcription factor AP-1 complex (ortholog) | | | | Naked Mole-Rat | 140 | description | gene, protein-coding, MODEL [RefSeq] |
| 626107379 | Fosl2 | FOS like 2, AP-1 transcription factor subunit | ENCODES a protein that exhibits chromatin binding (ortholog); DNA binding (ortholog); DNA-binding transcription activator activity, RNA polymerase II-specific (ortholog); INVOLVED IN alveolar secondary septum development (ortholog); B cell differentiation (ortholog); B cell proliferation (ortholog); ASSOCIATED WITH APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (ortholog); colon adenocarcinoma (ortholog); colorectal cancer (ortholog); FOUND IN nucleoplasm (ortholog); nucleus (ortholog); transcription factor AP-1 complex (ortholog) | | | | Black Rat | 133 | description | gene, protein-coding, MODEL [RefSeq] |
| 620283 | Foxo1 | forkhead box O1 | ENCODES a protein that exhibits DNA-binding transcription factor activity; sequence-specific DNA binding; transcription coactivator binding; INVOLVED IN cellular response to dexamethasone stimulus; cellular response to hydrogen peroxide; enamel mineralization; P ARTICIPATES IN interleukin-6 signaling pathway; phosphatidylinositol 3-kinase-Akt signaling pathway; transforming growth factor-beta Smad dependent signaling pathway; ASSOCIATED WITH Experimental Liver Cirrhosis; Insulin Resistance; metabolic dysfunction-associated steatotic liver disease; FOUND IN cytoplasm; nucleus; cytosol (ortholog); INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran | 2 | 138462974 | 138541420 | Rat | 669 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1622400 | Gdf5 | growth differentiation factor 5 | This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates the development of numerous tissue and cell types, including cartilage, joints, brown fat, teeth, and the growth of neuronal axons and dendrites. Mice with a mutation in this gene exhibit enhanced tooth enamel formation. [provided by RefSeq, Aug 2016] | 2 | 155782943 | 155787204 | Mouse | 253 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1552765 | Itgb6 | integrin beta 6 | Enables integrin binding activity. Involved in cell adhesion mediated by integrin and transforming growth factor beta production. Acts upstream of or within several processes, including enamel mineralization; lung development; and mononuclear cell differentiatio n. Located in external side of plasma membrane. Part of integrin alphav-beta6 complex. Is expressed in several structures, including alimentary system; diaphragm; limb; metanephros; and vertebral axis musculature. Used to study asthma and pulmonary emphysema. Human ortholog(s) of this gene implicated in amelogenesis imperfecta type 1H. Orthologous to human ITGB6 (integrin subunit beta 6). [provided by Alliance of Genome Resources, Jul 2025] | 2 | 60428636 | 60553005 | Mouse | 276 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1313338 | Klk1 | kallikrein 1 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. Mice lacking the encoded protein are unable to generate significant levels of kinins in most tissues, develop cardiovascular abnormalities and exhibit hypercalciuria of renal origin. This gene is located in a cluster of several related kallikrein genes on chromosome 7. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, Feb 2016] | 7 | 43874784 | 43879046 | Mouse | 144 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1553029 | Klk11 | kallikrein related-peptidase 11 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, May 2016] | 7 | 43424041 | 43428687 | Mouse | 41 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1615982 | Klk1b1 | kallikrein 1-related peptidase b1 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43616175 | 43620742 | Mouse | 27 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1615989 | Klk1b11 | kallikrein 1-related peptidase b11 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43645301 | 43649299 | Mouse | 25 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1615987 | Klk1b16 | kallikrein 1-related peptidase b16 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43771678 | 43791034 | Mouse | 23 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1615986 | Klk1b21 | kallikrein 1-related peptidase b21 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43654040 | 43756007 | Mouse | 38 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1615985 | Klk1b24 | kallikrein 1-related peptidase b24 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43837658 | 43841879 | Mouse | 37 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1615984 | Klk1b27 | kallikrein 1-related peptidase b27 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43701714 | 43706136 | Mouse | 44 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1615983 | Klk1b5 | kallikrein 1-related peptidase b5 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43865898 | 43870127 | Mouse | 42 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1615981 | Klk1b8 | kallikrein 1-related peptidase b8 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43600090 | 43604368 | Mouse | 29 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1619278 | Klk1b9 | kallikrein 1-related peptidase b9 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, Feb 2016] | 7 | 43625485 | 43629800 | Mouse | 22 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 11955895 | KLK4 | kallikrein related peptidase 4 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); peptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); extracellular matrix disassembly (ortholog); ASSOCIATED WITH amelog enesis imperfecta (ortholog); amelogenesis imperfecta type 2A1 (ortholog); breast cancer (ortholog); FOUND IN extracellular region (inferred); secretory granule (inferred) | 19 | 47849158 | 47876522 | Bonobo | 30 | description | gene, protein-coding, MODEL [RefSeq] |
| 12117701 | KLK4 | kallikrein related peptidase 4 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); peptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); extracellular matrix disassembly (ortholog); ASSOCIATED WITH amelog enesis imperfecta (ortholog); amelogenesis imperfecta type 2A1 (ortholog); breast cancer (ortholog); FOUND IN extracellular region (inferred) | 1 | 105950948 | 105955464 | Dog | 27 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 12451457 | Klk4 | kallikrein related peptidase 4 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); peptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); extracellular matrix disassembly (ortholog); ASSOCIATED WITH amelog enesis imperfecta (ortholog); amelogenesis imperfecta type 2A1 (ortholog); breast cancer (ortholog); FOUND IN extracellular region (inferred); secretory granule (inferred) | NW_004936889 | 583259 | 586412 | Squirrel | 30 | description | gene, protein-coding, MODEL [RefSeq] |
| 18367744 | KLK4 | kallikrein related peptidase 4 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); peptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); extracellular matrix disassembly (ortholog); ASSOCIATED WITH amelog enesis imperfecta (ortholog); amelogenesis imperfecta type 2A1 (ortholog); breast cancer (ortholog); FOUND IN extracellular region (inferred); secretory granule (inferred) | | | | Green Monkey | 30 | description | gene, protein-coding, MODEL [RefSeq] |
| 18927080 | Klk4 | kallikrein related peptidase 4 | ENCODES a protein that exhibits hydrolase activity (inferred); metal ion binding (inferred); peptidase activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); extracellular matrix disassembly (ortholog); ASSOCIATED WITH amelog enesis imperfecta (ortholog); amelogenesis imperfecta type 2A1 (ortholog); breast cancer (ortholog); FOUND IN extracellular region (inferred); secretory granule (inferred) | | | | Naked Mole-Rat | 30 | description | gene, protein-coding, MODEL [RefSeq] |
| 625946633 | Klk4 | kallikrein related peptidase 4 | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); extracellular matrix disassembly (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta type 2A1 (ortholog); breast cancer (ortholog) | | | | Black Rat | 18 | description | gene, protein-coding, MODEL [RefSeq] |
| 1315025 | Klk7 | kallikrein related-peptidase 7 (chymotryptic, stratum corneum) | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, May 2016] | 7 | 43460718 | 43465811 | Mouse | 60 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 1314361 | Klk8 | kallikrein related-peptidase 8 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic cleavage of the activation peptide to generate the functional enzyme. Mice lacking the encoded protein exhibit impaired long-term potentiation and increased anxiety, as well as a hyperkeratosis phenotype. This gene is located in a cluster of several related kallikrein genes on chromosome 7. [provided by RefSeq, May 2016] | 7 | 43447001 | 43453250 | Mouse | 132 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 10843 | Klkb1 | kallikrein B, plasma 1 | This gene encodes a member of the kallikrein subfamily of serine proteases that are involved in diverse physiological functions such as skin desquamation, tooth enamel formation, seminal liquefaction, synaptic neural plasticity and brain function. The encoded pr eproprotein undergoes proteolytic processing to generate a disulfide-linked heterodimeric enzyme comprised of heavy and light chains. A complete deletion of the encoded protein prevents occlusive thrombus formation in mice with a minimal role in provoked bleeding. [provided by RefSeq, May 2016] | 8 | 45719725 | 45747872 | Mouse | 197 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 11764646 | LOC100991737 | putative adhesion G protein-coupled receptor F2P | ENCODES a protein that exhibits G protein-coupled receptor activity (inferred); transmembrane signaling receptor activity (inferred); INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic diso rder (ortholog); FOUND IN membrane (inferred) | 6 | 47239514 | 47279734 | Bonobo | 17 | description | gene, protein-coding, MODEL [RefSeq] |
| 18465674 | LOC103221399 | putative adhesion G protein-coupled receptor F2P | INVOLVED IN amelogenesis (ortholog); enamel mineralization (ortholog); gene expression (ortholog); ASSOCIATED WITH autistic disorder (ortholog) | | | | Green Monkey | 6 | description | gene, protein-coding, MODEL [RefSeq] |
| 1556913 | Nectin1 | nectin cell adhesion molecule 1 | Enables several functions, including cell adhesion mediator activity; protein homodimerization activity; and virus receptor activity. Involved in cochlea morphogenesis; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and homophilic cell adhesion via plasma membrane adhes ion molecules. Acts upstream of or within several processes, including camera-type eye development; desmosome organization; and enamel mineralization. Located in adherens junction; apical junction complex; and cell-cell contact zone. Is active in hippocampal mossy fiber to CA3 synapse and presynaptic active zone membrane. Is expressed in brain; jaw; renal vesicle; sensory organ; and skin. Human ortholog(s) of this gene implicated in cleft lip; cleft lip-palate-ectodermal dysplasia syndrome; cleft palate; and ectodermal dysplasia. Orthologous to human NECTIN1 (nectin cell adhesion molecule 1). [provided by Alliance of Genome Resources, Jul 2025] | 9 | 43655251 | 43718758 | Mouse | 257 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1553240 | Nectin2 | nectin cell adhesion molecule 2 | Enables cell adhesion molecule binding activity and protein homodimerization activity. Involved in homophilic cell adhesion via plasma membrane adhesion molecules and spermatid development. Acts upstream of or within several processes, including establishment of mitochondrion localization; sperm mit ochondrion organization; and spermatid development. Located in cell-cell contact zone; plasma membrane; and zonula adherens. Is expressed in brain; cochlea; enamel organ; male reproductive system; and metanephros. Human ortholog(s) of this gene implicated in Alzheimer's disease and multiple sclerosis. Orthologous to human NECTIN2 (nectin cell adhesion molecule 2). [provided by Alliance of Genome Resources, Jul 2025] | 7 | 19450569 | 19483498 | Mouse | 235 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1617954 | Odaph | odontogenesis associated phosphoprotein | Predicted to be involved in positive regulation of enamel mineralization. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A4. Orthologous to human ODAPH (odontogenesis associated phosphoprotein). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 92135332 | 92143176 | Mouse | 38 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 6489816 | Odaph | odontogenesis associated phosphoprotein | INVOLVED IN positive regulation of biomineral tissue development (ortholog); positive regulation of enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A4 (ortholog); FOUND IN extracellular region (inferred); INTERACTS WITH 17beta-estradiol (ortholog); 2-palmitoylglycerol (ortholog); acrylamide (ortholog) | 14 | 16356104 | 16364420 | Rat | 24 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8751030 | Odaph | odontogenesis associated phosphoprotein | INVOLVED IN positive regulation of biomineral tissue development (ortholog); positive regulation of enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A4 (ortholog) | NW_004955474 | 1502798 | 1509307 | Chinchilla | 6 | description | gene, protein-coding, MODEL [RefSeq] |
| 11671420 | ODAPH | odontogenesis associated phosphoprotein | INVOLVED IN positive regulation of biomineral tissue development (inferred); positive regulation of enamel mineralization (inferred); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A4 (ortholog) | 4 | 48640355 | 48649546 | Bonobo | 7 | description | gene, protein-coding, MODEL [RefSeq] |
| 12442868 | Odaph | odontogenesis associated phosphoprotein | INVOLVED IN positive regulation of biomineral tissue development (ortholog); positive regulation of enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A4 (ortholog) | NW_004936598 | 400214 | 407597 | Squirrel | 6 | description | gene, protein-coding, MODEL [RefSeq] |
| 13877290 | ODAPH | odontogenesis associated phosphoprotein | INVOLVED IN positive regulation of biomineral tissue development (inferred); positive regulation of enamel mineralization (inferred); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A4 (ortholog); INTERACTS WITH deoxynivalenol; graphene oxide | | | | Pig | 9 | description | gene, protein-coding, MODEL [RefSeq] |
| 18634416 | ODAPH | odontogenesis associated phosphoprotein | INVOLVED IN positive regulation of biomineral tissue development (inferred); positive regulation of enamel mineralization (inferred); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A4 (ortholog) | | | | Green Monkey | 7 | description | gene, protein-coding, MODEL [RefSeq] |
| 625913586 | Odaph | odontogenesis associated phosphoprotein | INVOLVED IN positive regulation of biomineral tissue development (ortholog); positive regulation of enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta hypomaturation type 2A4 (ortholog) | | | | Black Rat | 6 | description | gene, protein-coding, MODEL [RefSeq] |
| 732638 | Ppara | peroxisome proliferator activated receptor alpha | Enables RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; lipid binding activity; and nuclear receptor activity. Involved in several processes, including negative regulation of appetite; peroxisome proliferator activated receptor signaling pathway; and regulation of gen e expression. Acts upstream of or within several processes, including enamel mineralization; positive regulation of biosynthetic process; and protein ubiquitination. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including adipose tissue; early conceptus; gut; hemolymphoid system gland; and skeletal muscle. Used to study diabetes mellitus and schizophrenia. Human ortholog(s) of this gene implicated in Alzheimer's disease; coronary artery disease; hepatocellular carcinoma; lipid metabolism disorder; and myocardial infarction. Orthologous to human PPARA (peroxisome proliferator activated receptor alpha). [provided by Alliance of Genome Resources, Apr 2025] | 15 | 85619112 | 85691052 | Mouse | 1616 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 11757610 | PPARA | peroxisome proliferator activated receptor alpha | ENCODES a protein that exhibits DNA-binding transcription factor binding (ortholog); MDM2/MDM4 family protein binding (ortholog); mitogen-activated protein kinase kinase kinase binding (ortholog); INVOLVED IN behavioral response to nicotine (ortholog); cellular response to fructose stimulus (ortholo g); enamel mineralization (ortholog); ASSOCIATED WITH abdominal obesity-metabolic syndrome (ortholog); acute kidney tubular necrosis (ortholog); alcohol use disorder (ortholog); FOUND IN nucleus (ortholog) | | | | Bonobo | 224 | description | gene, protein-coding, MODEL [RefSeq] |
| 12618260 | Ppara | peroxisome proliferator activated receptor alpha | ENCODES a protein that exhibits DNA-binding transcription factor binding (ortholog); MDM2/MDM4 family protein binding (ortholog); mitogen-activated protein kinase kinase kinase binding (ortholog); INVOLVED IN behavioral response to nicotine (ortholog); cellular response to fructose stimulus (ortholo g); enamel mineralization (ortholog); ASSOCIATED WITH abdominal obesity-metabolic syndrome (ortholog); acute kidney tubular necrosis (ortholog); alcohol use disorder (ortholog); FOUND IN nucleus (ortholog) | NW_004936629 | 3672445 | 3725645 | Squirrel | 226 | description | gene, protein-coding, MODEL [RefSeq] |
| 14213069 | PPARA | peroxisome proliferator activated receptor alpha | ENCODES a protein that exhibits DNA-binding transcription factor binding (ortholog); MDM2/MDM4 family protein binding (ortholog); mitogen-activated protein kinase kinase kinase binding (ortholog); INVOLVED IN behavioral response to nicotine (ortholog); cellular response to fructose stimulus (ortholo g); enamel mineralization (ortholog); ASSOCIATED WITH abdominal obesity-metabolic syndrome (ortholog); acute kidney tubular necrosis (ortholog); alcohol use disorder (ortholog); FOUND IN fibrillar center (inferred); nuclear body (inferred); nucleus (inferred); INTERACTS WITH bezafibrate; cadmium atom; cadmium dichloride | | | | Pig | 244 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18369218 | PPARA | peroxisome proliferator activated receptor alpha | ENCODES a protein that exhibits DNA-binding transcription factor binding (ortholog); MDM2/MDM4 family protein binding (ortholog); mitogen-activated protein kinase kinase kinase binding (ortholog); INVOLVED IN behavioral response to nicotine (ortholog); cellular response to fructose stimulus (ortholo g); enamel mineralization (ortholog); ASSOCIATED WITH abdominal obesity-metabolic syndrome (ortholog); acute kidney tubular necrosis (ortholog); alcohol use disorder (ortholog); FOUND IN nucleus (ortholog) | | | | Green Monkey | 224 | description | gene, protein-coding, MODEL [RefSeq] |
| 18905207 | Ppara | peroxisome proliferator activated receptor alpha | ENCODES a protein that exhibits DNA-binding transcription factor binding (ortholog); MDM2/MDM4 family protein binding (ortholog); mitogen-activated protein kinase kinase kinase binding (ortholog); INVOLVED IN behavioral response to nicotine (ortholog); cellular response to fructose stimulus (ortholo g); enamel mineralization (ortholog); ASSOCIATED WITH abdominal obesity-metabolic syndrome (ortholog); acute kidney tubular necrosis (ortholog); alcohol use disorder (ortholog); FOUND IN nucleus (ortholog) | | | | Naked Mole-Rat | 229 | description | gene, protein-coding, MODEL [RefSeq] |
| 1313210 | Rell2 | RELT-like 2 | Enables collagen binding activity. Acts upstream of or within positive regulation of cell-substrate adhesion. Located in basement membrane. Is expressed in lip; lower jaw molar dental lamina; lower jaw molar enamel organ; and oral epithelium. Orthologous to huma n RELL2 (RELT like 2). [provided by Alliance of Genome Resources, Jul 2025] | 18 | 38088107 | 38092232 | Mouse | 73 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1615906 | Rogdi | rogdi homolog | Acts upstream of or within several processes, including enamel mineralization; locomotor rhythm; and pH reduction. Predicted to be located in nuclear envelope. Predicted to be part of RAVE complex. Predicted to be active in hippocampal mossy fiber to CA3 synapse and presynapse. Is expressed in several structures, including central nervous system; genitourinary system; nose; spinal ganglion; and tooth. Used to study Kohlschutter-Tonz syndrome. Human ortholog(s) of this gene implicated in Kohlschutter-Tonz syndrome. Orthologous to human ROGDI (rogdi atypical leucine zipper). [provided by Alliance of Genome Resources, Jul 2025] | 16 | 4826593 | 4831438 | Mouse | 153 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1314247 | SLC24A4 | solute carrier family 24 member 4 | This gene encodes a sodium/potassium/calcium exchange protein. The encoded antiporter transports one calcium and one potassium ion in exchange for four sodium ions and has been implicated in amelogenesis and enamel maturation. Certain variants in this gene have been associated with skin, hair, and eye pigmentation, while other variants have been identified in people with hypomaturation-type amelogenesis imperfecta. [provided by RefSeq, Nov 2023] | 14 | 92322581 | 92501481 | Human | 148 | description | gene, protein-coding, REVIEWED [RefSeq] |
| 11311 | Slc4a2 | solute carrier family 4 (anion exchanger), member 2 | Enables chloride:bicarbonate antiporter activity. Involved in several processes, including amelogenesis; negative regulation of CD8-positive, alpha-beta T cell activation; and positive regulation of enamel mineralization. Located in basolateral plasma membrane. Is expressed in brain; cornea; and testis. Human ortholog(s) of this gene implicated in osteopetrosis. Orthologous to human SLC4A2 (solute carrier family 4 member 2). [provided by Alliance of Genome Resources, Jul 2025] | 5 | 24628834 | 24645945 | Mouse | 202 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1352585 | STATH | statherin | Predicted to enable extracellular matrix constituent, lubricant activity and hydroxyapatite binding activity. Predicted to be a structural constituent of tooth enamel. Predicted to be involved in negative regulation of bone mineralization; ossification; and sali va secretion. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025] | 4 | 69995966 | 70002570 | Human | 34 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 8904614 | Stim1 | stromal interaction molecule 1 | ENCODES a protein that exhibits calcium channel regulator activity (ortholog); calcium ion binding (ortholog); channel activator activity (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); detection of calcium ion (ortholog); enam el mineralization (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); common variable immunodeficiency 10 (ortholog); congenital structural myopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog) | NW_004955414 | 19652990 | 19849353 | Chinchilla | 101 | description | gene, protein-coding, MODEL [RefSeq] |
| 11829292 | STIM1 | stromal interaction molecule 1 | ENCODES a protein that exhibits calcium channel regulator activity (ortholog); channel activator activity (ortholog); identical protein binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); detection of calcium ion (ortholog); enam '>enamel mineralization (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); common variable immunodeficiency 10 (ortholog); congenital structural myopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); growth cone (ortholog); plasma membrane (ortholog) | 11 | 3726501 | 3954951 | Bonobo | 109 | description | gene, protein-coding, MODEL [RefSeq] |
| 12394910 | STIM1 | stromal interaction molecule 1 | ENCODES a protein that exhibits calcium channel regulator activity (ortholog); channel activator activity (ortholog); identical protein binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); detection of calcium ion (ortholog); enam '>enamel mineralization (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); common variable immunodeficiency 10 (ortholog); congenital structural myopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); growth cone (ortholog); plasma membrane (ortholog) | 21 | 26394592 | 26594764 | Dog | 109 | description | gene, protein-coding, MODEL [RefSeq] |
| 12560613 | Stim1 | stromal interaction molecule 1 | ENCODES a protein that exhibits calcium channel regulator activity (ortholog); channel activator activity (ortholog); identical protein binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); detection of calcium ion (ortholog); enam '>enamel mineralization (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); common variable immunodeficiency 10 (ortholog); congenital structural myopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); growth cone (ortholog); plasma membrane (ortholog) | NW_004936498 | 849775 | 1063552 | Squirrel | 108 | description | gene, protein-coding, MODEL [RefSeq] |
| 14020716 | STIM1 | stromal interaction molecule 1 | ENCODES a protein that exhibits calcium channel regulator activity (ortholog); channel activator activity (ortholog); identical protein binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); detection of calcium ion (ortholog); enam '>enamel mineralization (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); common variable immunodeficiency 10 (ortholog); congenital structural myopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); growth cone (ortholog); plasma membrane (ortholog) | | | | Pig | 110 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 18407648 | STIM1 | stromal interaction molecule 1 | ENCODES a protein that exhibits calcium channel regulator activity (ortholog); channel activator activity (ortholog); identical protein binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); detection of calcium ion (ortholog); enam '>enamel mineralization (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); common variable immunodeficiency 10 (ortholog); congenital structural myopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); growth cone (ortholog); plasma membrane (ortholog) | | | | Green Monkey | 107 | description | gene, protein-coding, MODEL [RefSeq] |
| 18933789 | Stim1 | stromal interaction molecule 1 | ENCODES a protein that exhibits calcium channel regulator activity (ortholog); channel activator activity (ortholog); identical protein binding (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); detection of calcium ion (ortholog); enam '>enamel mineralization (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); common variable immunodeficiency 10 (ortholog); congenital structural myopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); growth cone (ortholog); plasma membrane (ortholog) | | | | Naked Mole-Rat | 107 | description | gene, protein-coding, MODEL [RefSeq] |
| 625848283 | Stim1 | stromal interaction molecule 1 | ENCODES a protein that exhibits calcium channel regulator activity (ortholog); calcium ion binding (ortholog); channel activator activity (ortholog); INVOLVED IN activation of store-operated calcium channel activity (ortholog); detection of calcium ion (ortholog); enam el mineralization (ortholog); PARTICIPATES IN calcium transport pathway; calcium/calcium-mediated signaling pathway; ASSOCIATED WITH colorectal cancer (ortholog); common variable immunodeficiency 10 (ortholog); congenital structural myopathy (ortholog); FOUND IN cortical endoplasmic reticulum (ortholog); endoplasmic reticulum (ortholog); endoplasmic reticulum membrane (ortholog) | | | | Black Rat | 101 | description | gene, protein-coding, MODEL [RefSeq] |
| 1321243 | TUFT1 | tuftelin 1 | Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth f actor mediated neuronal differentiation. [provided by RefSeq, Aug 2014] | 1 | 151540309 | 151583583 | Human | 138 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1321244 | Tuft1 | tuftelin 1 | Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth f actor mediated neuronal differentiation. [provided by RefSeq, Aug 2014] | 3 | 94520060 | 94566179 | Mouse | 144 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 1563550 | Wdr72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN cytoplasm (ortholog); endosome (ortholog); extracellular region (ortholog); INTERACTS WITH 6-propyl-2-thiouracil; amitrole; bisphenol A | 8 | 83718897 | 83902128 | Rat | 109 | description | gene, protein-coding, PROVISIONAL [RefSeq] |
| 1622619 | Wdr72 | WD repeat domain 72 | Acts upstream of or within several processes, including ameloblast differentiation; enamel mineralization; and protein-containing complex assembly. Located in endosome and nucleus. Used to study amelogenesis imperfecta hypomaturation type 2A3. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A3. Orthologous to human WDR72 (WD repeat domain 72). [provided by Alliance of Genome Resources, Jul 2025] | 9 | 74017608 | 74190485 | Mouse | 118 | description | gene, protein-coding, VALIDATED [RefSeq] |
| 9059391 | Wdr72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN cytoplasm (ortholog); endosome (ortholog); extracellular region (ortholog) | NW_004955409 | 1451506 | 1631976 | Chinchilla | 35 | description | gene, protein-coding, MODEL [RefSeq] |
| 11970046 | WDR72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN endosome (ortholog); extracellular region (ortholog); nucleus (ortholog) | 15 | 32449840 | 32695815 | Bonobo | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 12168669 | WDR72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN endosome (ortholog); extracellular region (ortholog); nucleus (ortholog) | 30 | 19120021 | 19340781 | Dog | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 12584195 | Wdr72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN endosome (ortholog); extracellular region (ortholog); nucleus (ortholog) | NW_004936471 | 15233828 | 15416415 | Squirrel | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 14082501 | WDR72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN endosome (ortholog); extracellular region (ortholog); nucleus (ortholog) | | | | Pig | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 18511318 | WDR72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN endosome (ortholog); extracellular region (ortholog); nucleus (ortholog) | | | | Green Monkey | 40 | description | gene, protein-coding, MODEL [RefSeq] |
| 18911394 | Wdr72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN cytoplasm (ortholog); endosome (ortholog); extracellular region (ortholog) | | | | Naked Mole-Rat | 37 | description | gene, protein-coding, MODEL [RefSeq] |
| 626163920 | Wdr72 | WD repeat domain 72 | INVOLVED IN ameloblast differentiation (ortholog); amelogenesis (ortholog); enamel mineralization (ortholog); ASSOCIATED WITH amelogenesis imperfecta (ortholog); amelogenesis imperfecta hypomaturation type 2A3 (ortholog); amelogenesis imperfecta type 1C (ortholo g); FOUND IN cytoplasm (ortholog); endosome (ortholog); extracellular region (ortholog) | | | | Black Rat | 35 | description | gene, protein-coding, MODEL [RefSeq] |