| 2043 | Add3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding; structural constituent of cytoskeleton (ortholog); INVOLVED IN positive regulation of cytoskeleton organization; positive regulation of vasoconstriction; response to xenobiotic stimulus; ASSOCIATED WITH abnormal actin cytoskeleton morphology; abnormal renal glomerulus morphology; decreased tubuloglomerular feedback response; ASSOCIATED WITH hypertension; proteinuria; Urinary Calculi; FOUND IN brush border (ortholog); cell cortex (ortholog); cell-cell junction (ortholog); INTERACTS WITH 1-naphthyl isothiocyanate; 17alpha-ethynylestradiol; 2,3,7,8-tetrachlorodibenzodioxine | 1 | 262152722 | 262260504 | Rat | 213 | symbol , PhenoGen | gene, protein-coding, VALIDATED [RefSeq] |
| 10088 | Add3 | adducin 3 | A structural constituent of cytoskeleton. Predicted to be involved in positive regulation of vasoconstriction; regulation of cytoskeleton organization; and response to xenobiotic stimulus. Located in several cellular components, including brush border; condensed nuclear chromosome; and postsynaptic density. Is expressed in several structures, including central nervous system; chondrocranium; gut; tail unsegmented mesenchyme; and vertebral axis musculature. Human ortholog(s) of this gene implicated in spastic quadriplegic cerebral palsy 3. Orthologous to human ADD3 (adducin 3). [provided by Alliance of Genome Resources, Jul 2025] | 19 | 53128874 | 53235518 | Mouse | 211 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 735411 | ADD3 | adducin 3 | Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell -cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced adducin gamma transcripts encoding different isoforms have been described. The functions of the different isoforms are not known. [provided by RefSeq, Jul 2008] | 10 | 109996373 | 110135565 | Human | 228 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 8998965 | Add3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding (ortholog); structural constituent of cytoskeleton (ortholog); INVOLVED IN positive regulation of cytoskeleton organization (ortholog); positive regulation of vasoconstriction (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH bipolar disorder (ortholog); brain ischemia (ortholog); cerebral palsy (ortholog); FOUND IN brush border (ortholog); cell cortex (ortholog); cell-cell junction (ortholog) | NW_004955485 | 1216435 | 1273275 | Chinchilla | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11796147 | ADD3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding (ortholog); INVOLVED IN positive regulation of cytoskeleton organization (ortholog); positive regulation of vasoconstriction (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH bipolar disorder (ortholog); brain ischemia (o rtholog); cerebral palsy (ortholog); FOUND IN brush border (inferred); cell cortex (inferred); cell-cell junction (inferred) | 10 | 106597693 | 106727494 | Bonobo | 37 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12264270 | ADD3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding (ortholog); INVOLVED IN positive regulation of cytoskeleton organization (ortholog); positive regulation of vasoconstriction (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH bipolar disorder (ortholog); brain ischemia (o rtholog); cerebral palsy (ortholog); FOUND IN brush border (inferred); cell cortex (inferred); cell-cell junction (inferred) | 28 | 21402068 | 21527006 | Dog | 37 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12540040 | Add3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding (ortholog); INVOLVED IN positive regulation of cytoskeleton organization (ortholog); positive regulation of vasoconstriction (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH bipolar disorder (ortholog); brain ischemia (o rtholog); cerebral palsy (ortholog); FOUND IN brush border (inferred); cell cortex (inferred); cell-cell junction (inferred) | NW_004936486 | 928956 | 1042168 | Squirrel | 37 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 14159956 | ADD3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding (ortholog); INVOLVED IN positive regulation of cytoskeleton organization (ortholog); positive regulation of vasoconstriction (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH bipolar disorder (ortholog); brain ischemia (o rtholog); cerebral palsy (ortholog); FOUND IN brush border (inferred); cell cortex (inferred); cell-cell junction (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 38 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18902952 | Add3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding (ortholog); structural constituent of cytoskeleton (ortholog); INVOLVED IN positive regulation of cytoskeleton organization (ortholog); positive regulation of vasoconstriction (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH bipolar disorder (ortholog); brain ischemia (ortholog); cerebral palsy (ortholog); FOUND IN brush border (ortholog); cell cortex (ortholog); cell-cell junction (ortholog) | | | | Naked Mole-Rat | 33 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 625889527 | Add3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding (ortholog); structural constituent of cytoskeleton (ortholog); INVOLVED IN positive regulation of cytoskeleton organization (ortholog); positive regulation of vasoconstriction (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH bipolar disorder (ortholog); brain ischemia (ortholog); cerebral palsy (ortholog); FOUND IN brush border (ortholog); cell cortex (ortholog); cell-cell junction (ortholog) | | | | Black Rat | 27 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18368164 | ADD3 | adducin 3 | ENCODES a protein that exhibits protein kinase C binding (ortholog); INVOLVED IN positive regulation of cytoskeleton organization (ortholog); positive regulation of vasoconstriction (ortholog); response to xenobiotic stimulus (ortholog); ASSOCIATED WITH bipolar disorder (ortholog); brain ischemia (o rtholog); cerebral palsy (ortholog); FOUND IN brush border (inferred); cell cortex (inferred); cell-cell junction (inferred) | | | | Green Monkey | 37 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 155253114 | add3 | | | | | | Tropical Clawed Frog | | symbol | gene, null |
| 155240856 | add3.L | | | | | | African Clawed Frog | | symbol | gene, null |
| 155248723 | add3.S | | | | | | African Clawed Frog | | symbol | gene, null |
| 7252953 | ADD3-AS1 | ADD3 antisense RNA 1 | INTERACTS WITH 4,4'-sulfonyldiphenol; okadaic acid; propofol | 10 | 109945559 | 110008381 | Human | 3 | symbol , COSMIC , name , Human Proteome Map | gene, ncrna, VALIDATED [RefSeq] |
| 150429617 | Add3em1Mcwi | adducin 3; ZFN induced mutant1, Mcwi | ASSOCIATED WITH decreased tubuloglomerular feedback response; decreased vasoconstriction | | | | Rat | 2 | symbol , description | gene, allele |
| 150429619 | Add3em2Mcwi | adducin 3; ZFN induced mutant2, Mcwi | ASSOCIATED WITH decreased tubuloglomerular feedback response; decreased vasoconstriction | | | | Rat | 2 | symbol , description | gene, allele |
| 730884 | ABO | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-25 8 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022] | 9 | 133250401 | 133275201 | Human | 100 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1347611 | ACKR1 | atypical chemokine receptor 1 (Duffy blood group) | The protein encoded by this gene is a glycosylated membrane protein and a non-specific receptor for several chemokines. The encoded protein is the receptor for the human malarial parasites Plasmodium vivax and Plasmodium knowlesi. Polymorphisms in this gene are the basis of the Duffy blood group sys tem. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] | 1 | 159204875 | 159206500 | Human | 95 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 10249 | BSG | basigin (Ok blood group) | The protein encoded by this gene, basigin, is a plasma membrane protein that is important in spermatogenesis, embryo implantation, neural network formation, and tumor progression. Basigin is also a member of the immunoglobulin superfamily, ubiquitously expressed in various tissues. Multiple transcri pt variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2020] | 19 | 571283 | 583493 | Human | 275 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 1345266 | 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. Mutations in this gene are associated with acromesomelic dysplasia, brachydactyly, chondrodysplasia, multiple synostoses syndrome, proximal symphalangism, and susceptibility to osteoarthritis. [provided by RefSeq, Aug 2016] | 20 | 35433347 | 35454749 | Human | 421 | GenBank Protein | gene, protein-coding, REVIEWED [RefSeq] |
| 13999452 | ZBTB18 | zinc finger and BTB domain containing 18 | ENCODES a protein that exhibits DNA binding (inferred); DNA-binding transcription repressor activity, RNA polymerase II-specific (inferred); metal ion binding (inferred); INVOLVED IN cerebellum development (ortholog); cerebral cortex development (ortholog); hippocampus development (ortholog); ASSOCI ATED WITH autosomal dominant intellectual developmental disorder (ortholog); autosomal dominant intellectual developmental disorder 22 (ortholog); Developmental Disabilities (ortholog); FOUND IN heterochromatin (inferred); nuclear speck (inferred); nucleoplasm (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 44 | GenBank Protein | gene, protein-coding, MODEL [RefSeq] |
