COL8A1 (collagen type VIII alpha 1 chain)

2016-10-01  

Identity

HGNC
LOCATION
3q12.1
LOCUSID
ALIAS
C3orf7
FUSION GENES

Other Information

Locus ID:

NCBI: 1295
MIM: 120251
HGNC: 2215
Ensembl: ENSG00000144810

Variants:

dbSNP: 1295
ClinVar: 1295
TCGA: ENSG00000144810
COSMIC: COL8A1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144810ENST00000261037P27658
ENSG00000144810ENST00000273342P27658
ENSG00000144810ENST00000452013C9JTN9
ENSG00000144810ENST00000621757A0A087WZI0
ENSG00000144810ENST00000652472P27658

Expression (GTEx)

0
50
100
150
200
250
300

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
235121052013Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.39
235336002013CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.25
244980172014Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.25
211396832010Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.17
169360882006No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.16
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
294979072018Co-expression Network Analysis Identified COL8A1 Is Associated with the Progression and Prognosis in Human Colon Adenocarcinoma.11
177212972007Keratoconus is not associated with mutations in COL8A1 and COL8A2.10

Citation

Dessen P

COL8A1 (collagen type VIII alpha 1 chain)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56124/col8a1