Identity
HGNC
LOCATION
1p34.3
LOCUSID
ALIAS
FECD,FECD1,PPCD,PPCD2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1296
MIM: 120252
HGNC: 2216
Ensembl: ENSG00000171812
Variants:
dbSNP: 1296
ClinVar: 1296
TCGA: ENSG00000171812
COSMIC: COL8A2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000171812 | ENST00000303143 | P25067 |
| ENSG00000171812 | ENST00000397799 | P25067 |
| ENSG00000171812 | ENST00000481785 | E9PP49 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33405048 | 2021 | Collagen type VIII alpha 2 chain (COL8A2), an important component of the basement membrane of the corneal endothelium, facilitates the malignant development of glioblastoma cells via inducing EMT. | 4 |
| 33405048 | 2021 | Collagen type VIII alpha 2 chain (COL8A2), an important component of the basement membrane of the corneal endothelium, facilitates the malignant development of glioblastoma cells via inducing EMT. | 4 |
| 32931574 | 2020 | COL8A2 Regulates the Fate of Corneal Endothelial Cells. | 13 |
| 32931574 | 2020 | COL8A2 Regulates the Fate of Corneal Endothelial Cells. | 13 |
| 26989952 | 2016 | Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2. | 2 |
| 27121161 | 2016 | Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy. | 8 |
| 26989952 | 2016 | Distinct Clinical Phenotype of Corneal Dystrophy Predicts the p.(Leu450Trp) Substitution in COL8A2. | 2 |
| 27121161 | 2016 | Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy. | 8 |
| 23601356 | 2014 | Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy. | 5 |
| 25007886 | 2014 | Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy. | 17 |
| 23601356 | 2014 | Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy. | 5 |
| 25007886 | 2014 | Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy. | 17 |
| 23608731 | 2013 | High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. | 81 |
| 24348007 | 2013 | Genetic screen of African Americans with Fuchs endothelial corneal dystrophy. | 16 |
| 23608731 | 2013 | High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders. | 81 |
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-(collagen-type-viii-alpha-2-chain)
