• Gene id: 1296

Gene Summary

• Gene Symbol: COL8A2   Gene   UCSC   Ensembl
• Aliases: FECD, FECD1, PPCD, PPCD2
• Gene name: collagen type VIII alpha 2 chain
• Alternate names: collagen alpha-2(VIII) chain, collagen VIII, alpha-2 polypeptide, collagen, type VIII, alpha 2, endothelial collagen,
• Gene location: 1p34.3 (36126206: 36095238)     Exons: 5     NC_000001.11
• Gene summary(Entrez): This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with
• OMIM: 602426

Protein Summary

• Protein general information: P25067  
  • Name: Collagen alpha 2(VIII) chain (Endothelial collagen)
  • Length: 703  
  • Mass: 67244
  • Tissue specificity: Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective tissue layers around hair folli
• Sequence:

  MLGTLTPLSSLLLLLLVLVLGCGPRASSGGGAGGAAGYAPVKYIQPMQKGPVGPPFREGKGQYLEMPLPLLPMDL
  KGEPGPPGKPGPRGPPGPPGFPGKPGMGKPGLHGQPGPAGPPGFSRMGKAGPPGLPGKVGPPGQPGLRGEPGIRG
  DQGLRGPPGPPGLPGPSGITIPGKPGAQGVPGPPGFQGEPGPQGEPGPPGDRGLKGDNGVGQPGLPGAPGQGGAP
  GPPGLPGPAGLGKPGLDGLPGAPGDKGESGPPGVPGPRGEPGAVGPKGPPGVDGVGVPGAAGLPGPQGPSGAKGE
  PGTRGPPGLIGPTGYGMPGLPGPKGDRGPAGVPGLLGDRGEPGEDGEPGEQGPQGLGGPPGLPGSAGLPGRRGPP
  GPKGEAGPGGPPGVPGIRGDQGPSGLAGKPGVPGERGLPGAHGPPGPTGPKGEPGFTGRPGGPGVAGALGQKGDL
  GLPGQPGLRGPSGIPGLQGPAGPIGPQGLPGLKGEPGLPGPPGEGRAGEPGTAGPTGPPGVPGSPGITGPPGPPG
  PPGPPGAPGAFDETGIAGLHLPNGGVEGAVLGKGGKPQFGLGELSAHATPAFTAVLTSPFPASGMPVKFDRTLYN
  GHSGYNPATGIFTCPVGGVYYFAYHVHVKGTNVWVALYKNNVPATYTYDEYKKGYLDQASGGAVLQLRPNDQVWV
  QMPSDQANGLYSTEYIHSSFSGFLLCPT

• Structural information:
  • Protein Domains: (570..70-)
    (/note="C1q-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00368"-)
  • Interpro: IPR001073  IPR008160  IPR008983  
  • Prosite: PS50871
  • STRING: ENSP00000380901
• Other Databases: GeneCards:  COL8A2  Malacards:  COL8A2

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:0005604	basement membrane	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0001525	angiogenesis	IEA	biological process
GO:0007155	cell adhesion	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:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0005788	endoplasmic reticulum lumen	TAS	cellular component
GO:0050673	epithelial cell proliferation	IEA	biological process
GO:0048593	camera-type eye morphogenesis	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:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0031012	extracellular matrix	NAS	cellular component
GO:0030674	protein-macromolecule adaptor activity	NAS	molecular function
GO:0098609	cell-cell adhesion	NAS	biological process
GO:0005604	basement membrane	NAS	cellular component
GO:0005201	extracellular matrix structural constituent	NAS	molecular function
GO:0030198	extracellular matrix organization	NAS	biological process

Diseases

Associated diseases	References
Fuchs corneal dystrophy	KEGG:H00960
Posterior polymorphous corneal dystrophy	KEGG:H00961
Fuchs corneal dystrophy	KEGG:H00960
Posterior polymorphous corneal dystrophy	KEGG:H00961
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