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Gene id

1284

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

COL4A2 Gene UCSC Ensembl

Aliases

ICH, POREN2

Gene name

collagen type IV alpha 2 chain

Alternate names

collagen alpha-2(IV) chain, canstatin,

Gene location

13q34 (110307283: 110513026) Exons: 48 NC_000013.11

Gene summary(Entrez)

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. 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. [provided by RefSeq, Jul 2008]

OMIM

120090

Protein Summary

Protein general information

P08572

Name: Collagen alpha 2(IV) chain [Cleaved into: Canstatin]

Length: 1712 Mass: 167,553

Sequence

MGRDQRAVAGPALRRWLLLGTVTVGFLAQSVLAGVKKFDVPCGGRDCSGGCQCYPEKGGRGQPGPVGPQGYNGPP
GLQGFPGLQGRKGDKGERGAPGVTGPKGDVGARGVSGFPGADGIPGHPGQGGPRGRPGYDGCNGTQGDSGPQGPP
GSEGFTGPPGPQGPKGQKGEPYALPKEERDRYRGEPGEPGLVGFQGPPGRPGHVGQMGPVGAPGRPGPPGPPGPK
GQQGNRGLGFYGVKGEKGDVGQPGPNGIPSDTLHPIIAPTGVTFHPDQYKGEKGSEGEPGIRGISLKGEEGIMGF
PGLRGYPGLSGEKGSPGQKGSRGLDGYQGPDGPRGPKGEAGDPGPPGLPAYSPHPSLAKGARGDPGFPGAQGEPG
SQGEPGDPGLPGPPGLSIGDGDQRRGLPGEMGPKGFIGDPGIPALYGGPPGPDGKRGPPGPPGLPGPPGPDGFLF
GLKGAKGRAGFPGLPGSPGARGPKGWKGDAGECRCTEGDEAIKGLPGLPGPKGFAGINGEPGRKGDRGDPGQHGL
PGFPGLKGVPGNIGAPGPKGAKGDSRTITTKGERGQPGVPGVPGMKGDDGSPGRDGLDGFPGLPGPPGDGIKGPP
GDPGYPGIPGTKGTPGEMGPPGLGLPGLKGQRGFPGDAGLPGPPGFLGPPGPAGTPGQIDCDTDVKRAVGGDRQE
AIQPGCIGGPKGLPGLPGPPGPTGAKGLRGIPGFAGADGGPGPRGLPGDAGREGFPGPPGFIGPRGSKGAVGLPG
PDGSPGPIGLPGPDGPPGERGLPGEVLGAQPGPRGDAGVPGQPGLKGLPGDRGPPGFRGSQGMPGMPGLKGQPGL
PGPSGQPGLYGPPGLHGFPGAPGQEGPLGLPGIPGREGLPGDRGDPGDTGAPGPVGMKGLSGDRGDAGFTGEQGH
PGSPGFKGIDGMPGTPGLKGDRGSPGMDGFQGMPGLKGRPGFPGSKGEAGFFGIPGLKGLAGEPGFKGSRGDPGP
PGPPPVILPGMKDIKGEKGDEGPMGLKGYLGAKGIQGMPGIPGLSGIPGLPGRPGHIKGVKGDIGVPGIPGLPGF
PGVAGPPGITGFPGFIGSRGDKGAPGRAGLYGEIGATGDFGDIGDTINLPGRPGLKGERGTTGIPGLKGFFGEKG
TEGDIGFPGITGVTGVQGPPGLKGQTGFPGLTGPPGSQGELGRIGLPGGKGDDGWPGAPGLPGFPGLRGIRGLHG
LPGTKGFPGSPGSDIHGDPGFPGPPGERGDPGEANTLPGPVGVPGQKGDQGAPGERGPPGSPGLQGFPGITPPSN
ISGAPGDKGAPGIFGLKGYRGPPGPPGSAALPGSKGDTGNPGAPGTPGTKGWAGDSGPQGRPGVFGLPGEKGPRG
EQGFMGNTGPTGAVGDRGPKGPKGDPGFPGAPGTVGAPGIAGIPQKIAVQPGTVGPQGRRGPPGAPGEMGPQGPP
GEPGFRGAPGKAGPQGRGGVSAVPGFRGDEGPIGHQGPIGQEGAPGRPGSPGLPGMPGRSVSIGYLLVKHSQTDQ
EPMCPVGMNKLWSGYSLLYFEGQEKAHNQDLGLAGSCLARFSTMPFLYCNPGDVCYYASRNDKSYWLSTTAPLPM
MPVAEDEIKPYISRCSVCEAPAIAIAVHSQDVSIPHCPAGWRSLWIGYSFLMHTAAGDEGGGQSLVSPGSCLEDF
RATPFIECNGGRGTCHYYANKYSFWLTTIPEQSFQGSPSADTLKAGLIRTHISRCQVCMKNL

Structural information

Protein Domains	Collagen (1489-1712)
Interpro:	IPR008160 IPR001442 IPR016187
Prosite:	PS51403
Pfam:	PF01413 PF01391
PDB:	1LI1
PDBsum:	1LI1
MINT:	1180068
STRING:	ENSP00000353654;

Other Databases

GeneCards: COL4A2; Malacards: COL4A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001525	angiogenesis	IEA	biological_process
GO:0005201	extracellular matrix stru ctural constituent	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
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:0005587	collagen type IV trimer	TAS	cellular_component
GO:0005587	collagen type IV trimer	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0030198	extracellular matrix orga nization	NAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0035987	endodermal cell different iation	IEP	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0031012	extracellular matrix	TAS	cellular_component
GO:0001525	angiogenesis	IEA	biological_process
GO:0005201	extracellular matrix stru ctural constituent	IEA	molecular_function
GO:0005201	extracellular matrix stru ctural constituent	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005576	extracellular region	IEA	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:0005576	extracellular region	TAS	cellular_component
GO:0005578	proteinaceous extracellul ar matrix	IEA	cellular_component
GO:0005581	collagen trimer	IEA	cellular_component
GO:0005581	collagen trimer	IEA	cellular_component
GO:0005587	collagen type IV trimer	IEA	cellular_component
GO:0005587	collagen type IV trimer	TAS	cellular_component
GO:0005587	collagen type IV trimer	TAS	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005604	basement membrane	IEA	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0030198	extracellular matrix orga nization	NAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0031012	extracellular matrix	IEA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0035987	endodermal cell different iation	IEP	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0071560	cellular response to tran sforming growth factor be ta stimulus	IEA	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0031012	extracellular matrix	TAS	cellular_component
GO:0005201	extracellular matrix stru ctural constituent	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
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:0005587	collagen type IV trimer	TAS	cellular_component
GO:0005587	collagen type IV trimer	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0005788	endoplasmic reticulum lum en	TAS	cellular_component
GO:0016525	negative regulation of an giogenesis	IDA	biological_process
GO:0030198	extracellular matrix orga nization	NAS	biological_process
GO:0030198	extracellular matrix orga nization	TAS	biological_process
GO:0030574	collagen catabolic proces s	TAS	biological_process
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0035987	endodermal cell different iation	IEP	biological_process
GO:0043231	intracellular membrane-bo unded organelle	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0070062	extracellular exosome	IDA	cellular_component
GO:0031012	extracellular matrix	IDA	cellular_component
GO:0031012	extracellular matrix	ISS	cellular_component
GO:0031012	extracellular matrix	TAS	cellular_component

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04510  Focal adhesion
hsa04933  AGE-RAGE signaling pathway in diabetic complications
hsa05146  Amoebiasis
hsa05222  Small cell lung cancer
hsa04512  ECM-receptor interaction
hsa04974  Protein digestion and absorption

Diseases

Associated diseases	References
Endometriosis (ovarian)	PMID: 15005245
Coronary artery disease	PMID: 21378990
Hemorrhage	OMIM: 120090
Mental disorders	PMID: 20889312
Ovarian endometriosis	PMID: 15005245
Ovarian endometriosis	PMID: 15005245
Porencephaly	OMIM: 120090
Ovarian endometriosis	INFBASE15005245

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
15005245	Endometrio sis (ovari an)					FCER1G PGDS IL-8 GRO1 GRO2 CXCR4 MCP1 MMP COL4A2 and COL5A2	Show abstract