• Gene id: 1285

Gene Summary

• Gene Symbol: COL4A3   Gene   UCSC   Ensembl
• Aliases: ATS2, ATS3
• Gene name: collagen type IV alpha 3 chain
• Alternate names: collagen alpha-3(IV) chain, collagen IV, alpha-3 polypeptide, collagen, type IV, alpha 3 (Goodpasture antigen), tumstatin,
• Gene location: 2q36.3 (227164588: 227314791)     Exons: 11     NC_000002.12
• Gene summary(Entrez): Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2
• OMIM: 120070

Protein Summary

• Protein general information: Q01955  
  • Name: Collagen alpha 3(IV) chain (Goodpasture antigen) [Cleaved into: Tumstatin]
  • Length: 1670  
  • Mass: 161813
  • Tissue specificity: Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung. PubMed
• Sequence:

  MSARTAPRPQVLLLPLLLVLLAAAPAASKGCVCKDKGQCFCDGAKGEKGEKGFPGPPGSPGQKGFTGPEGLPGPQ
  GPKGFPGLPGLTGSKGVRGISGLPGFSGSPGLPGTPGNTGPYGLVGVPGCSGSKGEQGFPGLPGTLGYPGIPGAA
  GLKGQKGAPAKEEDIELDAKGDPGLPGAPGPQGLPGPPGFPGPVGPPGPPGFFGFPGAMGPRGPKGHMGERVIGH
  KGERGVKGLTGPPGPPGTVIVTLTGPDNRTDLKGEKGDKGAMGEPGPPGPSGLPGESYGSEKGAPGDPGLQGKPG
  KDGVPGFPGSEGVKGNRGFPGLMGEDGIKGQKGDIGPPGFRGPTEYYDTYQEKGDEGTPGPPGPRGARGPQGPSG
  PPGVPGSPGSSRPGLRGAPGWPGLKGSKGERGRPGKDAMGTPGSPGCAGSPGLPGSPGPPGPPGDIVFRKGPPGD
  HGLPGYLGSPGIPGVDGPKGEPGLLCTQCPYIPGPPGLPGLPGLHGVKGIPGRQGAAGLKGSPGSPGNTGLPGFP
  GFPGAQGDPGLKGEKGETLQPEGQVGVPGDPGLRGQPGRKGLDGIPGTPGVKGLPGPKGELALSGEKGDQGPPGD
  PGSPGSPGPAGPAGPPGYGPQGEPGLQGTQGVPGAPGPPGEAGPRGELSVSTPVPGPPGPPGPPGHPGPQGPPGI
  PGSLGKCGDPGLPGPDGEPGIPGIGFPGPPGPKGDQGFPGTKGSLGCPGKMGEPGLPGKPGLPGAKGEPAVAMPG
  GPGTPGFPGERGNSGEHGEIGLPGLPGLPGTPGNEGLDGPRGDPGQPGPPGEQGPPGRCIEGPRGAQGLPGLNGL
  KGQQGRRGKTGPKGDPGIPGLDRSGFPGETGSPGIPGHQGEMGPLGQRGYPGNPGILGPPGEDGVIGMMGFPGAI
  GPPGPPGNPGTPGQRGSPGIPGVKGQRGTPGAKGEQGDKGNPGPSEISHVIGDKGEPGLKGFAGNPGEKGNRGVP
  GMPGLKGLKGLPGPAGPPGPRGDLGSTGNPGEPGLRGIPGSMGNMGMPGSKGKRGTLGFPGRAGRPGLPGIHGLQ
  GDKGEPGYSEGTRPGPPGPTGDPGLPGDMGKKGEMGQPGPPGHLGPAGPEGAPGSPGSPGLPGKPGPHGDLGFKG
  IKGLLGPPGIRGPPGLPGFPGSPGPMGIRGDQGRDGIPGPAGEKGETGLLRAPPGPRGNPGAQGAKGDRGAPGFP
  GLPGRKGAMGDAGPRGPTGIEGFPGPPGLPGAIIPGQTGNRGPPGSRGSPGAPGPPGPPGSHVIGIKGDKGSMGH
  PGPKGPPGTAGDMGPPGRLGAPGTPGLPGPRGDPGFQGFPGVKGEKGNPGFLGSIGPPGPIGPKGPPGVRGDPGT
  LKIISLPGSPGPPGTPGEPGMQGEPGPPGPPGNLGPCGPRGKPGKDGKPGTPGPAGEKGNKGSKGEPGPAGSDGL
  PGLKGKRGDSGSPATWTTRGFVFTRHSQTTAIPSCPEGTVPLYSGFSFLFVQGNQRAHGQDLGTLGSCLQRFTTM
  PFLFCNVNDVCNFASRNDYSYWLSTPALMPMNMAPITGRALEPYISRCTVCEGPAIAIAVHSQTTDIPPCPHGWI
  SLWKGFSFIMFTSAGSEGTGQALASPGSCLEEFRASPFLECHGRGTCNYYSNSYSFWLASLNPERMFRKPIPSTV
  KAGELEKIISRCQVCMKKRH

• Structural information:
  • Protein Domains: (1445..166-)
    NC1 (/note="Collagen-IV)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00736"-)
  • Interpro: IPR008160  IPR001442  IPR036954  IPR016187  
  • Prosite: PS51403
  • PDB: 5NB0
  • PDBsum: 5NB0
  • STRING: ENSP00000379823
• Other Databases: GeneCards:  COL4A3  Malacards:  COL4A3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0030198	extracellular matrix organization	IBA	biological process
GO:0005587	collagen type IV trimer	IBA	cellular component
GO:0005201	extracellular matrix structural constituent	IEA	molecular function
GO:0005581	collagen trimer	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005198	structural molecule activity	NAS	molecular function
GO:0007605	sensory perception of sound	TAS	biological process
GO:0008015	blood circulation	TAS	biological process
GO:0008285	negative regulation of cell population proliferation	TAS	biological process
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0016525	negative regulation of angiogenesis	IEA	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IEA	biological process
GO:0009749	response to glucose	IEA	biological process
GO:0005587	collagen type IV trimer	IEA	cellular component
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0032836	glomerular basement membrane development	IEA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0010951	negative regulation of endopeptidase activity	IEA	biological process
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0006919	activation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0005587	collagen type IV trimer	IDA	cellular component
GO:1905563	negative regulation of vascular endothelial cell proliferation	IDA	biological process
GO:0005604	basement membrane	IDA	cellular component
GO:0072577	endothelial cell apoptotic process	IDA	biological process
GO:0005178	integrin binding	IDA	molecular function
GO:0032836	glomerular basement membrane development	ISS	biological process
GO:0008191	metalloendopeptidase inhibitor activity	NAS	molecular function
GO:0007166	cell surface receptor signaling pathway	NAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005178	integrin binding	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa04926	Relaxin signaling pathway
hsa04974	Protein digestion and absorption
hsa04512	ECM-receptor interaction
hsa05222	Small cell lung cancer
hsa04933	AGE-RAGE signaling pathway in diabetic complications
hsa05146	Amoebiasis

Diseases

Associated diseases	References
Endometriosis-associated infertility	INFBASE: 11841847
Alport syndrome	KEGG:H00581
Benign familial hematuria	KEGG:H00582
Alport syndrome	KEGG:H00581
Benign familial hematuria	KEGG:H00582
Benign familial hematuria	PMID:19357112
Alport syndrome	PMID:7987301
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)