• Gene id: 1284

Gene Summary

• Gene Symbol: COL4A2   Gene   UCSC   Ensembl
• Aliases: BSVD2, ICH, POREN2
• Gene name: collagen type IV alpha 2 chain
• Alternate names: collagen alpha-2(IV) chain, canstatin,
• Gene location: 13q34 (110307283: 110513208)     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
• OMIM: 120090

Protein Summary

• Protein general information: P08572  
  • Name: Collagen alpha 2(IV) chain [Cleaved into: Canstatin]
  • Length: 1712  
  • Mass: 167553
• 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: (1489..171-)
    NC1 (/note="Collagen-IV)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00736"-)
  • Interpro: IPR008160  IPR001442  IPR036954  IPR016187  
  • Prosite: PS51403
  • PDB: 1LI1 5NAX 5NB2 6MPX
  • PDBsum: 1LI1 5NAX 5NB2 6MPX
  • STRING: ENSP00000353654
• Other Databases: GeneCards:  COL4A2  Malacards:  COL4A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005201	extracellular matrix structural constituent	IBA	molecular function
GO:0005615	extracellular space	IBA	cellular component
GO:0031012	extracellular matrix	IBA	cellular component
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IBA	biological process
GO:0005587	collagen type IV trimer	IBA	cellular component
GO:0030198	extracellular matrix organization	IBA	biological process
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:0001525	angiogenesis	IEA	biological process
GO:0005581	collagen trimer	IEA	cellular component
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:0005515	protein binding	IPI	molecular function
GO:0014823	response to activity	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0071560	cellular response to transforming growth factor beta stimulus	IEA	biological process
GO:0038063	collagen-activated tyrosine kinase receptor signaling pathway	IEA	biological process
GO:0005604	basement membrane	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0005587	collagen type IV trimer	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
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	RCA	molecular function
GO:0030020	extracellular matrix structural constituent conferring tensile strength	HDA	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	ISS	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:0062023	collagen-containing extracellular matrix	ISS	colocalizes with
GO:0062023	collagen-containing extracellular matrix	TAS	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
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: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:0016525	negative regulation of angiogenesis	IDA	biological process
GO:0035987	endodermal cell differentiation	IEP	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
GO:0005587	collagen type IV trimer	TAS	cellular component
GO:0005587	collagen type IV trimer	TAS	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0030198	extracellular matrix organization	NAS	biological process

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
Porencephaly	KEGG:H00839
Porencephaly	KEGG:H00839
Porencephaly	PMID:26708157
Atherosclerosis	PMID:28642624
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray