• Gene id: 1292

Gene Summary

• Gene Symbol: COL6A2   Gene   UCSC   Ensembl
• Aliases: BTHLM1, PP3610, UCMD1
• Gene name: collagen type VI alpha 2 chain
• Alternate names: collagen alpha-2(VI) chain, collagen VI, alpha-2 polypeptide, collagen, type VI, alpha 2, epididymis secretory sperm binding protein, human mRNA for collagen VI alpha-2 C-terminal globular domain,
• Gene location: 21q22.3 (46098070: 46132848)     Exons: 30     NC_000021.9
• Gene summary(Entrez): This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been sh
• OMIM: 188390

Protein Summary

• Protein general information: P12110  
  • Name: Collagen alpha 2(VI) chain
  • Length: 1019  
  • Mass: 108579
• Sequence:

  MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHMKQFVP
  QFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALANMTEQIRQDRS
  KGTVHFAVVITDGHVTGSPCGGIKLQAERAREEGIRLFAVAPNQNLKEQGLRDIASTPHELYRNDYATMLPDSTE
  IDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPGQKGRQGDPGIEGPIGFPGPK
  GVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGNRGPDGYPGEAGSPGERGDQGGKGDP
  GRPGRRGPPGEIGAKGSKGYQGNSGAPGSPGVKGAKGGPGPRGPKGEPGRRGDPGTKGSPGSDGPKGEKGDPGPE
  GPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRGDPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPG
  EKGEPGPRGPEGGRGDFGLKGEPGRKGEKGEPADPGPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRE
  TCGCCDCEKRCGALDVVFVIDSSESIGYTNFTLEKNFVINVVNRLGAIAKDPKSETGTRVGVVQYSHEGTFEAIQ
  LDDERIDSLSSFKEAVKNLEWIAGGTWTPSALKFAYDRLIKESRRQKTRVFAVVITDGRHDPRDDDLNLRALCDR
  DVTVTAIGIGDMFHEKHESENLYSIACDKPQQVRNMTLFSDLVAEKFIDDMEDVLCPDPQIVCPDLPCQTELSVA
  QCTQRPVDIVFLLDGSERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTA
  IHEALETTQYLNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHESAHSMRKQNVVPTVLA
  LGSDVDMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC

• Structural information:
  • Protein Domains: (46..23-)
    (/note="VWFA-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (615..80-)
    (/note="VWFA-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219-)
    (833..101-)
    (/note="VWFA-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00219"-)
  • Interpro: IPR008160  IPR002035  IPR036465  
  • Prosite: PS50234
  • STRING: ENSP00000300527
• Other Databases: GeneCards:  COL6A2  Malacards:  COL6A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003429	growth plate cartilage chondrocyte morphogenesis	IBA	biological process
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005581	collagen trimer	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005576	extracellular region	IDA	cellular component
GO:0032991	protein-containing complex	IPI	cellular component
GO:0005518	collagen binding	IPI	molecular function
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:0005788	endoplasmic reticulum lumen	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:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0009749	response to glucose	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA	molecular function
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: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:0005615	extracellular space	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	ISS	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:0005576	extracellular region	HDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04510	Focal adhesion
hsa04974	Protein digestion and absorption
hsa04512	ECM-receptor interaction

Diseases

Associated diseases	References
Ullrich disease	KEGG:H01778
Bethlem myopathy	KEGG:H01340
Collagen VI myopathy	KEGG:H01341
Myosclerosis	KEGG:H01338
Ullrich disease	KEGG:H01778
Bethlem myopathy	KEGG:H01340
Collagen VI myopathy	KEGG:H01341
Myosclerosis	KEGG:H01338
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
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