COL8A2 (collagen type VIII alpha 2 chain)

2016-10-01  

Identity

HGNC
COL8A2
LOCATION
1p34.3
LOCUSID
1296
ALIAS
FECD,FECD1,PPCD,PPCD2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1296
MIM: 120252
HGNC: 2216
Ensembl: ENSG00000171812

Variants:

dbSNP: 1296
ClinVar: 1296
TCGA: ENSG00000171812
COSMIC: COL8A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000171812ENST00000303143P25067
ENSG00000171812ENST00000397799P25067
ENSG00000171812ENST00000481785E9PP49

Expression (GTEx)

0
10
20
30
40
50
60
70
80
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
N/A

References

Pubmed IDYearTitleCitations
159146062005Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.74
184648022009Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.31
174713292006Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.26
228148182012Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.21
185029862009Genome-wide linkage scan in fuchs endothelial corneal dystrophy.18
151759092004Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.17
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
231100552012Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.16
180248222007British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.15

Citation

Dessen P

COL8A2 (collagen type VIII alpha 2 chain)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56509/col8a2