Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1295
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Collagen type VIII alpha 1 chain |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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COL8A1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
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C3orf7 |
Chromosome
Chromosome number
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3 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q12.1 |
Summary
Summary 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 |
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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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 |
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Sequence length |
744 |
Interactions |
View interactions
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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, 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, 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 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, rs61751377, rs61753029, rs61751407, rs61751389, rs61750645, rs61750648, rs879255520, rs752147871, rs886044750, rs886044749, rs746541266, rs756840095, rs886044725, rs749526785, rs1057518955, rs1057518767, rs371489809, rs1064793014, rs1571264574, rs1659524475 View all (20 more) |
21665990, 23455636, 26691988 |
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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 |
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GWAS |
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