Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1295
Gene name Gene Name - the full gene name approved by the HGNC.
Collagen type VIII alpha 1 chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COL8A1
Synonyms (NCBI Gene) Gene synonyms aliases
C3orf7
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q12.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be either a homo- or a heterotrime
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT519131 hsa-miR-8485 HITS-CLIP 21572407
MIRT510127 hsa-miR-4789-3p HITS-CLIP 21572407
MIRT510125 hsa-miR-1295b-3p HITS-CLIP 21572407
MIRT510126 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT510124 hsa-miR-190a-3p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001525 Process Angiogenesis IEA
GO:0005201 Function Extracellular matrix structural constituent IBA 21873635
GO:0005515 Function Protein binding IPI 25416956, 29892012, 31515488, 32296183
GO:0005576 Component Extracellular region TAS
GO:0005591 Component Collagen type VIII trimer TAS 2029894
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
120251 2215 ENSG00000144810
Protein
UniProt ID P27658
Protein name Collagen alpha-1(VIII) chain (Endothelial collagen) [Cleaved into: Vastatin]
Protein function Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also a component of the endothelia of blood vessels. Necessary for migration and proliferation of vascul
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 157 214 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 207 271 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 617 741 C1q domain Domain
Tissue specificity 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
MAVLPGPLQLLGVLLTISLSSIRLIQAGAYYGIKPLPPQIPPQMPPQIPQYQPLGQQVPH
MPLAKDGLAMGKEMPHLQYGKEYPHLPQYMKEIQPAPRMGKEAVPKKGKEIPLASLRGEQ
GPRGEPGPRGPPGPPGLPGHGIPGIKGKPGPQGYPGVGKPGMPGMPGKPGAMGMPGAKGE
IGQKGEIGPMGIPGPQGPPGPHGLPG
IGKPGGPGLPGQPGPKGDRGPKGLPGPQGLRGPK
GDKGFGMPGAPGVKGPPGMHGPPGPVGLPGV
GKPGVTGFPGPQGPLGKPGAPGEPGPQGP
IGVPGVQGPPGIPGIGKPGQDGIPGQPGFPGGKGEQGLPGLPGPPGLPGIGKPGFPGPKG
DRGMGGVPGALGPRGEKGPIGAPGIGGPPGEPGLPGIPGPMGPPGAIGFPGPKGEGGIVG
PQGPPGPKGEPGLQGFPGKPGFLGEVGPPGMRGLPGPIGPKGEAGQKGVPGLPGVPGLLG
PKGEPGIPGDQGLQGPPGIPGIGGPSGPIGPPGIPGPKGEPGLPGPPGFPGIGKPGVAGL
HGPPGKPGALGPQGQPGLPGPPGPPGPPGPPAVMPPTPPPQGEYLPDMGLGIDGVKPPHA
YGAKKGKNGGPAYEMPAFTAELTAPFPPVGAPVKFNKLLYNGRQNYNPQTGIFTCEVPGV
YYFAYHVHCKGGNVWVALFKNNEPVMYTYDEYKKGFLDQASGSAVLLLRPGDRVFLQMPS
EQAAGLYAGQYVHSSFSGYLL
YPM
Sequence length 744
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Protein digestion and absorption   Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Integrin cell surface interactions
Collagen chain trimerization
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Breast carcinoma Breast Carcinoma rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451
View all (71 more)
29059683
Age-related macular degeneration Age related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)
21665990, 23455636, 26691988
Unknown
Disease term Disease name Evidence References Source
Heart failure Heart Failure, Diastolic 29556499 ClinVar
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Glaucoma Glaucoma GWAS
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Psoriatic Associate 32326527
Carcinoma Hepatocellular Associate 32311840
Cardiomyopathy Dilated Associate 27936202
Choroidal Neovascularization Associate 27643879, 32730261
Cleft Lip Associate 23512105
Cleft Palate Associate 23512105
Corneal Neovascularization Associate 24498017
Dermatitis Atopic Associate 31275967
Diabetic Nephropathies Associate 36949528
Geographic Atrophy Associate 24498017