Collagen, type IV, alpha 4

COL4A4
Identifiers
Aliases	COL4A4, CA44, collagen type IV alpha 4, collagen type IV alpha 4 chain, BFH, ATS2
External IDs	OMIM: 120131; MGI: 104687; HomoloGene: 20071; GeneCards: COL4A4; OMA:COL4A4 - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q36.3 Start 227,002,714 bp End 227,164,453 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1|1 C5 Start 82,426,144 bp End 82,564,570 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in renal medulla retinal pigment epithelium tail of epididymis right coronary artery left coronary artery caput epididymis visceral pleura ascending aorta right auricle human kidney Top expressed in epithelium of lens right lung lobe retinal pigment epithelium left lung lobe efferent ductule iris vestibular membrane of cochlear duct human kidney right kidney ciliary body 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 extracellular region basement membrane collagen collagen type IV trimer endoplasmic reticulum lumen extracellular space extracellular matrix collagen-containing extracellular matrix Biological process extracellular matrix organization glomerular basement membrane development angiogenesis endothelial cell morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1286 12829 Ensembl ENSG00000081052 ENSMUSG00000067158 UniProt P53420 Q9QZR9 RefSeq (mRNA) NM_000092 NM_007735 RefSeq (protein) NP_000083 NP_031761 Location (UCSC) Chr 2: 227 – 227.16 Mb Chr 1: 82.43 – 82.56 Mb PubMed search
Wikidata
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Collagen alpha-4(IV) chain is a protein that in humans is encoded by the COL4A4 gene.

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset 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 so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR.

Disease Database

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

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.
• Hudson BG, Reeders ST, Tryggvason K (1994). "Type IV collagen: structure, gene organization, and role in human diseases. Molecular basis of Goodpasture and Alport syndromes and diffuse leiomyomatosis". J. Biol. Chem. 268 (35): 26033–6. doi:10.1016/S0021-9258(19)74270-7. PMID 8253711.
• Lemmink HH, Schröder CH, Monnens LA, Smeets HJ (1997). "The clinical spectrum of type IV collagen mutations". Hum. Mutat. 9 (6): 477–99. doi:10.1002/(SICI)1098-1004(1997)9:6<477::AID-HUMU1>3.0.CO;2-#. hdl:2066/25010. PMID 9195222. S2CID 196601220.
• 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). "[From Alport syndrome to benign familial hematuria: clinical and genetic aspect]". Nephrol. Ther. 1 (2): 90–100. doi:10.1016/j.nephro.2005.03.005. PMID 16895672.
• Kamagata Y, Mattei MG, Ninomiya Y (1992). "Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2". J. Biol. Chem. 267 (33): 23753–8. doi:10.1016/S0021-9258(18)35902-7. PMID 1429714.
• 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.
• Sanes JR, Engvall E, Butkowski R, Hunter DD (1990). "Molecular heterogeneity of basal laminae: isoforms of laminin and collagen IV at the neuromuscular junction and elsewhere". J. Cell Biol. 111 (4): 1685–99. doi:10.1083/jcb.111.4.1685. PMC 2116223. PMID 2211832.
• Gunwar S, Saus J, Noelken ME, Hudson BG (1990). "Glomerular basement membrane. Identification of a fourth chain, alpha 4, of type IV collagen". J. Biol. Chem. 265 (10): 5466–9. doi:10.1016/S0021-9258(19)39384-6. PMID 2318822.
• 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.
• 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.