COL8A1
Collagen Type VIII Alpha 1 Chain
Gene Information Card
| Symbol | COL8A1 |
|---|---|
| Full Name | collagen type VIII alpha 1 chain |
| Gene Type | protein-coding |
| Chromosomal Location | 3q12.1 |
| NCBI Gene ID | 1295 ncbi.nlm.nih.gov/gene/1295 |
| Ensembl ID | ENSG00000144810 |
| UniProt ID | P27658 |
| OMIM ID | 120251 |
| HGNC ID | 2215 |
| Aliases | C3orf7, collagen alpha-1(VIII) chain |
Description
COL8A1 (collagen type VIII alpha 1 chain) is a protein-coding gene located on chromosome 3q12.1. It encodes the alpha-1 chain of type VIII collagen, a short-chain collagen that is a major component of Descemet's membrane in the cornea. Type VIII collagen forms hexagonal lattice structures and is involved in cell adhesion, migration, and extracellular matrix organization. Mutations in COL8A1 are associated with Fuchs endothelial corneal dystrophy (FECD) and posterior polymorphous corneal dystrophy (PPCD).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Fuchs endothelial corneal dystrophy | Missense mutations in COL8A1 disrupt collagen assembly in Descemet's membrane, leading to endothelial cell loss and corneal edema. | ClinVar, OMIM |
| Posterior polymorphous corneal dystrophy | Dominant-negative mutations alter collagen VIII structure, causing abnormal endothelial cell morphology and Descemet's membrane thickening. | OMIM, PubMed |
| Corneal endothelial dystrophy | Loss-of-function variants impair extracellular matrix integrity, resulting in progressive endothelial dysfunction. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cornea | High | Tissue-specific high expression in corneal endothelium |
| Lung | Moderate | Alveolar epithelial cells |
| Heart | Low | Cardiac fibroblasts |
| Kidney | Low | Glomerular cells |
| Liver | Low | Hepatic stellate cells |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | Moderate | Endothelial cell model |
| ARPE-19 (retinal pigment epithelium) | Low | Ocular cell line |
| HEK293 (embryonic kidney) | Low | Common expression system |
| HepG2 (hepatocellular carcinoma) | Low | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1540G>A (p.Gly514Ser) | Missense | Rare | Associated with Fuchs endothelial corneal dystrophy; disrupts collagen triple helix stability |
| c.1555C>T (p.Arg519Cys) | Missense | Rare | Reported in posterior polymorphous corneal dystrophy; alters protein folding |
| c.1621G>A (p.Gly541Arg) | Missense | Rare | Pathogenic in corneal endothelial dystrophy; impairs secretion |
Mutation functional classification
Loss of Function (LOF)
Nonsense or frameshift mutations leading to haploinsufficiency are rare; reduced collagen VIII disrupts Descemet's membrane integrity.
Gain of Function (GOF)
Not established for COL8A1; no known activating mutations.
Dominant Negative (DN)
Missense mutations in the collagen triple helix domain (e.g., Gly substitutions) act in a dominant-negative manner, interfering with normal collagen assembly.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • cell adhesion | • extracellular matrix organization |
| • cell migration | • endothelial cell differentiation |
Pathways
• Collagen biosynthesis and modifying enzymes
• ECM-receptor interaction
• Focal adhesion
• PI3K-Akt signaling pathway
Protein Summary
The COL8A1 gene encodes the alpha-1 chain of type VIII collagen, a short-chain collagen that forms homotrimers or heterotrimers with COL8A2. The protein contains a triple-helical collagen domain flanked by N- and C-terminal non-collagenous domains. It is a major component of Descemet's membrane in the cornea, where it assembles into hexagonal lattices. The protein is also expressed in vascular endothelial cells and contributes to blood vessel wall integrity. Mutations in COL8A1 cause corneal endothelial dystrophies, primarily Fuchs endothelial corneal dystrophy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL8A1 Knockout HEK293 Cell Line | EDJ-KQ4316 | Human | 1295 | Details Get a Quote |
| COL8A1 Knockout HeLa Cell Line | EDJ-KQ25514 | Human | 1295 | Details Get a Quote |
| COL8A1 Knockout A-549 Cell Line | EDJ-KQ61417 | Human | 1295 | Details Get a Quote |
| COL8A1 Knockout HCT 116 Cell Line | EDJ-KQ69916 | Human | 1295 | Details Get a Quote |
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