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Gene Symbol |
COL8A1 |
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Aliases |
C3orf7 |
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Entrez Gene ID |
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Gene Name |
Collagen type VIII alpha 1 chain |
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Chromosomal Location |
3q12.1 |
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HGNC ID |
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Summary |
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 heterotrimer. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Dec 2011]
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e!Ensembl
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Gene Ontology (GO)
| GO ID |
Ontology |
Function |
Evidence |
Reference |
| GO:0030198 |
Biological process |
Extracellular matrix organization |
IBA |
21873635 |
| GO:0035987 |
Biological process |
Endodermal cell differentiation |
IEP |
23154389 |
| GO:0005591 |
Cellular component |
Collagen type VIII trimer |
TAS |
2029894 |
| GO:0005615 |
Cellular component |
Extracellular space |
IBA |
21873635 |
| GO:0031012 |
Cellular component |
Extracellular matrix |
IBA |
21873635 |
| GO:0062023 |
Cellular component |
Collagen-containing extracellular matrix |
HDA |
23979707, 25037231, 27068509, 27559042, 28327460, 28675934 |
| GO:0062023 |
Cellular component |
Collagen-containing extracellular matrix |
HDA |
20551380 |
| GO:0005201 |
Molecular function |
Extracellular matrix structural constituent |
IBA |
21873635 |
| GO:0005515 |
Molecular function |
Protein binding |
IPI |
16189514, 25416956 |
| GO:0030020 |
Molecular function |
Extracellular matrix structural constituent conferring tensile strength |
RCA |
20551380, 23979707, 25037231, 27068509, 27559042, 28327460, 28675934 |
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| Protein Information |
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Protein Name |
Collagen alpha-1(VIII) chain, cell proliferation-inducing protein 41, collagen VIII, alpha-1 polypeptide, collagen, type VIII, alpha 1, endothelial collagen, smag-64, smooth muscle cell-expressed and macrophage conditioned medium-induced protein smag-64 |
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Function |
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UniProt |
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Associated Diseases
| Disease group | Disease Name | References |
| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Cleft upper lip |
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| Congenital Abnormality |
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| Endocrine System Diseases |
| PCOS |
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| Eye Diseases |
| Macular Degeneration |
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| Geographic Atrophy |
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| Neoplasms |
| Breast Cancer |
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References |
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| Ezzidi Intissar, Mtiraoui Nabil, Mohmmed Ali Mohammed Eltigani, Masoudi Aqeel Al, Abu Duhier Faisel |
| Prince Fahd Bin Sultan Research Chair, Using Advance Technology for Diseases Detection and Treatment, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia. iezzidi@ut.edu.sa. |
| J Genet. 2018 Dec;97(5):1213-1223. |
Abstract
Polycystic ovary syndrome (PCOS) is a common endocrine disorder in females, and is associated with altered metabolic processes in particular insulin resistance and diabetes mellitus. PCOS shares with type-2 diabetes (T2D) a number of features, including beta cell dysfunction, impaired glucose tolerance and dyslipidaemia. Recently, genomewide association studies (GWAS) have reported a number of genes with reproducible associations and susceptibilities to T2D. To address this, we examined the association between the T2D GWAS candidate genes (CDKAL1, CDKN2B, COL8A1, HHEX, IGF2BP2, KCNJ1, KCNQ1 and SLC30A8) and PCOS in Saudi women. A case-control study, includes 162 cases and 162 controls was enrolled. Genotyping was carried out by the allelicdiscrimination method. Our results showed that the variants including rs792837 of COL8A1, rs61873498 of KCNQ1 and rs13266634 of SLC30A8 genes to be significantly more frequent in PCOS patients than in controls. Our results suggest that COL8A1, KCNQ1 and SLC30A8, which are previously identified through GWAS as T2D-associated genes, are associated with PCOS. |
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| © 2019, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412
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