COL8A1 (collagen type VIII alpha 1 chain)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1295 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Collagen type VIII alpha 1 chain |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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COL8A1 |
SynonymsGene synonyms aliases
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C3orf7 |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q12.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0001525 |
Process |
Angiogenesis |
IEA |
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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 |
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GO:0005591 |
Component |
Collagen type VIII trimer |
TAS |
2029894 |
GO:0005615 |
Component |
Extracellular space |
IBA |
21873635 |
GO:0005788 |
Component |
Endoplasmic reticulum lumen |
TAS |
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GO:0007155 |
Process |
Cell adhesion |
IEA |
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GO:0010811 |
Process |
Positive regulation of cell-substrate adhesion |
IEA |
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GO:0030020 |
Function |
Extracellular matrix structural constituent conferring tensile strength |
RCA |
20551380, 23979707, 25037231, 27068509, 27559042, 28327460, 28675934 |
GO:0030198 |
Process |
Extracellular matrix organization |
IBA |
21873635 |
GO:0030198 |
Process |
Extracellular matrix organization |
TAS |
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GO:0031012 |
Component |
Extracellular matrix |
IBA |
21873635 |
GO:0035987 |
Process |
Endodermal cell differentiation |
IEP |
23154389 |
GO:0048593 |
Process |
Camera-type eye morphogenesis |
IEA |
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GO:0050673 |
Process |
Epithelial cell proliferation |
IEA |
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GO:0062023 |
Component |
Collagen-containing extracellular matrix |
HDA |
23979707, 25037231, 27068509, 27559042, 28327460, 28675934 |
GO:0062023 |
Component |
Collagen-containing extracellular matrix |
HDA |
20551380 |
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
744 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Breast carcinoma |
Breast Carcinoma |
rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038 |
29059683 |
Age-related macular degeneration |
Age related macular degeneration |
rs2133900556, rs199474657, rs2274700, rs1410996, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475 |
21665990, 23455636, 26691988 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Exudative macular degeneration |
Exudative age-related macular degeneration, exudative macular degeneration |
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26691988 |
Geographic atrophy |
Geographic Atrophy |
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26691988 |
Heart failure |
Heart Failure, Diastolic |
rs121918074, rs142027794, rs148791216, rs72648927, rs71578935, rs142416150, rs199830512, rs755445214, rs150102469, rs779568205, rs907992794, rs1202130741 |
29556499 |
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