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COL4A3
Identifiers
Aliases	COL4A3, collagen type IV alpha 3 chain, ATS2, ATS3
External IDs	OMIM: 120070; MGI: 104688; HomoloGene: 68033; GeneCards: COL4A3; OMA:COL4A3 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q36.3 Start 227,164,624 bp End 227,314,792 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 C5 Start 82,564,642 bp End 82,699,780 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of biceps brachii retinal pigment epithelium glutes renal medulla endothelial cell glomerulus triceps brachii muscle optic nerve metanephric glomerulus buccal mucosa cell Top expressed in epithelium of lens retinal pigment epithelium right lung right lung lobe right kidney human kidney left lung left lung lobe aortic valve iris More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent structural molecule activity protein binding metalloendopeptidase inhibitor activity integrin binding extracellular matrix structural constituent conferring tensile strength Cellular component collagen endoplasmic reticulum lumen intracellular membrane-bounded organelle endoplasmic reticulum extracellular region basement membrane collagen type IV trimer extracellular space extracellular matrix collagen-containing extracellular matrix Biological process extracellular matrix organization hearing blood circulation cell adhesion endothelial cell apoptotic process cell population proliferation activation of cysteine-type endopeptidase activity involved in apoptotic process negative regulation of cell population proliferation cell surface receptor signaling pathway negative regulation of endopeptidase activity negative regulation of angiogenesis glomerular basement membrane development collagen-activated tyrosine kinase receptor signaling pathway response to glucose Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1285 12828 Ensembl ENSG00000169031 ENSMUSG00000079465 UniProt Q01955 Q9QZS0 RefSeq (mRNA) NM_000091 NM_031362 NM_031363 NM_031364 NM_031365 NM_031366 NM_007734 RefSeq (protein) NP_000082 NP_031760 Location (UCSC) Chr 2: 227.16 – 227.31 Mb Chr 1: 82.56 – 82.7 Mb PubMed search
Wikidata
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Collagen alpha-3(IV) chain is a protein that in humans is encoded by the COL4A3 gene.

Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits; this gene encodes the alpha 3 subunit. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. In Goodpasture's syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. There are multiple alternate transcripts that appear to be unique to this human alpha 3 gene and alternate splicing is restricted to the six exons that encode this C-terminal domain. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Some exons of this gene are interspersed with exons of an uncharacterized gene which is on the opposite strand.

Disease Database

LOVD Alport gene variant databases (COL4A3, COL4A4, COL4A5)

References

1. ^ GRCh38: Ensembl release 89: ENSG00000169031 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000079465 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Turner N, Mason PJ, Brown R, Fox M, Povey S, Rees A, Pusey CD (Mar 1992). "Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen". J Clin Invest. 89 (2): 592–601. doi:10.1172/JCI115625. PMC 442892. PMID 1737849.
6. ^ "Entrez Gene: COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)".

Further reading

• Hinek A (1995). "Nature and the multiple functions of the 67-kD elastin-/laminin binding protein". Cell Adhes. Commun. 2 (3): 185–93. doi:10.3109/15419069409004436. PMID 7827955.
• Ständer M, Naumann U, Wick W, Weller M (1999). "Transforming growth factor-beta and p-21: multiple molecular targets of decorin-mediated suppression of neoplastic growth". Cell Tissue Res. 296 (2): 221–7. doi:10.1007/s004410051283. PMID 10382266. S2CID 20282995.
• Kurpakus Wheater M, Kernacki KA, Hazlett LD (1999). "Corneal cell proteins and ocular surface pathology". Biotechnic & Histochemistry. 74 (3): 146–59. doi:10.3109/10520299909047967. PMID 10416788.
• Pescucci C, Longo I, Bruttini M, et al. (2003). "Type-IV collagen related diseases". J. Nephrol. 16 (2): 314–6. PMID 12768082.
• Torra R, Tazón-Vega B, Ars E, Ballarín J (2005). "Collagen type IV (alpha3-alpha4) nephropathy: from isolated haematuria to renal failure". Nephrol. Dial. Transplant. 19 (10): 2429–32. doi:10.1093/ndt/gfh435. PMID 15280517.
• Rana K, Wang YY, Buzza M, et al. (2005). "The genetics of thin basement membrane nephropathy". Semin. Nephrol. 25 (3): 163–70. doi:10.1016/j.semnephrol.2005.01.008. PMID 15880327.
• Maziers N, Dahan K, Pirson Y (2006). "". Nephrol. Ther. 1 (2): 90–100. doi:10.1016/j.nephro.2005.03.005. PMID 16895672.
• Ghebrehiwet B, Peerschke EI, Hong Y, et al. (1992). "Short amino acid sequences derived from C1q receptor (C1q-R) show homology with the alpha chains of fibronectin and vitronectin receptors and collagen type IV". J. Leukoc. Biol. 51 (6): 546–56. doi:10.1002/jlb.51.6.546. PMID 1377218. S2CID 1214598.
• Quinones S, Bernal D, García-Sogo M, et al. (1992). "Exon/intron structure of the human alpha 3(IV) gene encompassing the Goodpasture antigen (alpha 3(IV)NC1). Identification of a potentially antigenic region at the triple helix/NC1 domain junction". J. Biol. Chem. 267 (28): 19780–4. doi:10.1016/S0021-9258(19)88621-0. PMID 1400291.
• Gupta S, Batchu RB, Datta K (1992). "Purification, partial characterization of rat kidney hyaluronic acid binding protein and its localization on the cell surface". Eur. J. Cell Biol. 56 (1): 58–67. PMID 1724753.
• Morrison KE, Mariyama M, Yang-Feng TL, Reeders ST (1991). "Sequence and localization of a partial cDNA encoding the human alpha 3 chain of type IV collagen". Am. J. Hum. Genet. 49 (3): 545–54. PMC 1683122. PMID 1882840.
• Hernandez MR, Igoe F, Neufeld AH (1986). "Extracellular matrix of the human optic nerve head". Am. J. Ophthalmol. 102 (2): 139–48. doi:10.1016/0002-9394(86)90134-0. PMID 2426947.
• Griffin CA, Emanuel BS, Hansen JR, et al. (1987). "Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13". Proc. Natl. Acad. Sci. U.S.A. 84 (2): 512–6. Bibcode:1987PNAS...84..512G. doi:10.1073/pnas.84.2.512. PMC 304239. PMID 3025878.
• Murata K, Motayama T, Kotake C (1986). "Collagen types in various layers of the human aorta and their changes with the atherosclerotic process". Atherosclerosis. 60 (3): 251–62. doi:10.1016/0021-9150(86)90172-3. PMID 3089234.
• Glant TT, Hadházy C, Mikecz K, Sipos A (1985). "Appearance and persistence of fibronectin in cartilage. Specific interaction of fibronectin with collagen type II". Histochemistry. 82 (2): 149–58. doi:10.1007/bf00708199. PMID 3997552. S2CID 19401258.
• Uscanga L, Kennedy RH, Stocker S, et al. (1984). "Immunolocalization of collagen types, laminin and fibronectin in the normal human pancreas". Digestion. 30 (3): 158–64. doi:10.1159/000199100. PMID 6389236.
• Sundarraj N, Willson J (1982). "Monoclonal antibody to human basement membrane collagen type IV". Immunology. 47 (1): 133–40. PMC 1555500. PMID 6811420.
• Hahn E, Wick G, Pencev D, Timpl R (1980). "Distribution of basement membrane proteins in normal and fibrotic human liver: collagen type IV, laminin, and fibronectin". Gut. 21 (1): 63–71. doi:10.1136/gut.21.1.63. PMC 1419572. PMID 6988303.
• Singhal PC, Sharma P, Garg P (1996). "HIV-1 gp160 protein-macrophage interactions modulate mesangial cell proliferation and matrix synthesis". Am. J. Pathol. 147 (6): 1780–9. PMC 1869951. PMID 7495302.

• Genes on human chromosome 2
• Collagens