COL8A2
Collagen Type VIII Alpha 2 Chain
Gene Information Card
| Symbol | COL8A2 |
|---|---|
| Full Name | Collagen Type VIII Alpha 2 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.2 |
| NCBI Gene ID | 1296 ncbi.nlm.nih.gov/gene/1296 |
| Ensembl ID | ENSG00000171812 |
| UniProt ID | P25067 |
| OMIM ID | 120252 |
| HGNC ID | 2216 |
| Aliases | FECD, PPCD2 |
Description
COL8A2 encodes the alpha-2 chain of type VIII collagen, a short-chain collagen that is a major component of Descemet's membrane in the cornea. This gene is essential for corneal endothelial integrity and function. Mutations in COL8A2 are associated with Fuchs endothelial corneal dystrophy (FECD) and posterior polymorphous corneal dystrophy (PPCD2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fuchs endothelial corneal dystrophy (FECD) | Missense mutations in COL8A2 disrupt collagen assembly in Descemet's membrane, leading to endothelial cell loss and corneal edema. | ClinVar, OMIM |
| Posterior polymorphous corneal dystrophy 2 (PPCD2) | Mutations alter collagen structure, causing abnormal endothelial cell morphology and Descemet's membrane thickening. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | High | Tissue-specific high expression |
| Lung | Moderate | GTEx |
| Heart | Low | GTEx |
| Kidney | Low | GTEx |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Corneal endothelial cells | High | Primary cell type |
| A549 (lung carcinoma) | Moderate | Cancer cell line |
| HEK293 (embryonic kidney) | Low | Immortalized cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52Trp) | Missense | Rare | Associated with FECD; disrupts collagen triple helix formation |
| c.455G>A (p.Arg152His) | Missense | Rare | Associated with PPCD2; alters protein stability |
| c.703C>T (p.Arg235Trp) | Missense | Rare | Reported in FECD; functional impact unclear |
Mutation functional classification
Loss of Function (LOF)
Not established; most mutations are missense and may cause dominant-negative effects.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg52Trp) are thought to exert dominant-negative effects by interfering with collagen network assembly.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen trimer |
| • extracellular region | • extracellular matrix |
| • cell adhesion |
Pathways
• Collagen biosynthesis and modifying enzymes
• ECM-receptor interaction
• Protein digestion and absorption
Protein Summary
The COL8A2 protein is a 703-amino acid alpha-2 chain of type VIII collagen. It contains a triple-helical collagen domain flanked by N- and C-terminal non-collagenous domains. It forms homotrimers or heterotrimers with COL8A1, contributing to the hexagonal lattice structure of Descemet's membrane. The protein is critical for corneal endothelial barrier function and transparency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL8A2 Knockout HEK293 Cell Line | EDJ-KQ4308 | Human | 1296 | Details Get a Quote |
| COL8A2 Knockout HeLa Cell Line | EDJ-KQ52950 | Human | 1296 | Details Get a Quote |
| COL8A2 Knockout A-549 Cell Line | EDJ-KQ61418 | Human | 1296 | Details Get a Quote |
| COL8A2 Knockout HCT 116 Cell Line | EDJ-KQ69917 | Human | 1296 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
