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COL4A6
Identifiers
Aliases	COL4A6, CXDELq22.3, DELXq22.3, DFNX6, collagen type IV alpha 6, collagen type IV alpha 6 chain
External IDs	OMIM: 303631; MGI: 2152695; HomoloGene: 48050; GeneCards: COL4A6; OMA:COL4A6 - orthologs
Gene location (Human) Chr. X chromosome (human) Band Xq22.3 Start 108,155,607 bp End 108,439,497 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X|X F1- F2 Start 139,948,399 bp End 140,257,072 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastric mucosa ventricular zone seminal vesicula urethra urinary bladder body of uterus left uterine tube mucosa of urinary bladder tail of epididymis decidua Top expressed in lens uterus urinary bladder mesonephros facial skeleton neurocranium skeleton membranous bone Dermatocranium mandible More reference expression data BioGPS More reference expression data
Gene ontology Molecular function extracellular matrix structural constituent extracellular matrix structural constituent conferring tensile strength Cellular component collagen type IV trimer endoplasmic reticulum lumen basement membrane collagen extracellular region extracellular space extracellular matrix collagen-containing extracellular matrix Biological process cell adhesion extracellular matrix organization collagen-activated tyrosine kinase receptor signaling pathway Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1288 94216 Ensembl ENSG00000197565 ENSMUSG00000031273 UniProt Q14031 n/a RefSeq (mRNA) NM_001287758 NM_001287759 NM_001287760 NM_001847 NM_033641 NM_053185 RefSeq (protein) NP_001274687 NP_001274688 NP_001274689 NP_001838 NP_378667 NP_001274688.1 n/a Location (UCSC) Chr X: 108.16 – 108.44 Mb Chr X: 139.95 – 140.26 Mb PubMed search
Wikidata
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Collagen alpha-6(IV) chain is a protein that in humans is encoded by the COL4A6 gene.

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. 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, alpha 5 type IV collagen, so that the gene pair shares a common promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have been identified for this gene.

References

1. ^ GRCh38: Ensembl release 89: ENSG00000197565 – Ensembl, May 2017
2. ^ GRCm38: Ensembl release 89: ENSMUSG00000031273 – 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. Zhou J, Mochizuki T, Smeets H, Antignac C, Laurila P, de Paepe A, Tryggvason K, Reeders ST (Sep 1993). "Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors". Science. 261 (5125): 1167–9. Bibcode:1993Sci...261.1167Z. doi:10.1126/science.8356449. PMID 8356449.
6. ^ "Entrez Gene: COL4A6 collagen, type IV, alpha 6".

Further reading

• 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.
• 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.
• 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.
• 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.
• 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.
• Matsubara T, Trüeb B, Fehr K, et al. (1984). "The localization and secretion of type IV collagen in synovial capillaries by immunohistochemistry using a monoclonal antibody against human type IV collagen". Exp. Cell Biol. 52 (3): 159–69. doi:10.1159/000163256. PMID 6386565.
• 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.
• Sasaki T, Göhring W, Pan TC, et al. (1996). "Binding of mouse and human fibulin-2 to extracellular matrix ligands". J. Mol. Biol. 254 (5): 892–9. doi:10.1006/jmbi.1995.0664. PMID 7500359.
• Oohashi T, Ueki Y, Sugimoto M, Ninomiya Y (1995). "Isolation and structure of the COL4A6 gene encoding the human alpha 6(IV) collagen chain and comparison with other type IV collagen genes". J. Biol. Chem. 270 (45): 26863–7. doi:10.1074/jbc.270.45.26863. PMID 7592929.
• Sugimoto M, Oohashi T, Ninomiya Y (1994). "The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters". Proc. Natl. Acad. Sci. U.S.A. 91 (24): 11679–83. Bibcode:1994PNAS...9111679S. doi:10.1073/pnas.91.24.11679. PMC 45295. PMID 7972123.
• Donovan FM, Vaughan PJ, Cunningham DD (1994). "Regulation of protease nexin-1 target protease specificity by collagen type IV". J. Biol. Chem. 269 (25): 17199–205. doi:10.1016/S0021-9258(17)32540-1. PMID 8006028.
• Oohashi T, Sugimoto M, Mattei MG, Ninomiya Y (1994). "Identification of a new collagen IV chain, alpha 6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5". J. Biol. Chem. 269 (10): 7520–6. doi:10.1016/S0021-9258(17)37317-9. PMID 8125972.
• Zhou J, Ding M, Zhao Z, Reeders ST (1994). "Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains". J. Biol. Chem. 269 (18): 13193–9. doi:10.1016/S0021-9258(17)36818-7. PMID 8175748.
• Zhang X, Zhou J, Reeders ST, Tryggvason K (1996). "Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis". Genomics. 33 (3): 473–9. doi:10.1006/geno.1996.0222. PMID 8661006.
• Cáceres J, Brandan E (1997). "Interaction between Alzheimer's disease beta A4 precursor protein (APP) and the extracellular matrix: evidence for the participation of heparan sulfate proteoglycans". J. Cell. Biochem. 65 (2): 145–58. doi:10.1002/(SICI)1097-4644(199705)65:2<145::AID-JCB2>3.0.CO;2-U. PMID 9136074. S2CID 43911847.
• Knott JC, Mahesparan R, Garcia-Cabrera I, et al. (1998). "Stimulation of extracellular matrix components in the normal brain by invading glioma cells". Int. J. Cancer. 75 (6): 864–72. doi:10.1002/(SICI)1097-0215(19980316)75:6<864::AID-IJC8>3.0.CO;2-T. PMID 9506531.

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