| 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] |
| 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] |
| 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] |
| 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] |
| 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] |
| 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] |
| 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] |
| 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] |
| 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 | 149 | 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] |
| 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] |
| 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] |
| 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 | 1614 | description | gene, protein-coding, VALIDATED [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] |
| 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] |
| 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] |
| 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] |
