COL4A3 Gene
Collagen Type IV Alpha 3 Chain
Gene Information Card
| Symbol | COL4A3 |
|---|---|
| Full Name | Collagen Type IV Alpha 3 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 2q36.3 |
| NCBI Gene ID | 1285 ncbi.nlm.nih.gov/gene/1285 |
| Ensembl ID | ENSG00000169031 |
| UniProt ID | Q01955 |
| OMIM ID | 120070 |
| HGNC ID | 2204 |
| Aliases | TUM1, COL4A3* |
Description
COL4A3 encodes the alpha-3 chain of type IV collagen, a major structural component of basement membranes. This chain is essential for the formation of the collagen IV network in the glomerular basement membrane, inner ear, and eye. Mutations in COL4A3 are associated with Alport syndrome and Goodpasture syndrome. The gene is located on chromosome 2q36.3 and spans approximately 156 kb.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alport syndrome (autosomal recessive) | Loss-of-function mutations disrupt collagen IV network in glomerular basement membrane, leading to progressive nephritis and hearing loss | ClinVar, OMIM |
| Goodpasture syndrome | Autoantibodies target the NC1 domain of COL4A3, causing glomerulonephritis and pulmonary hemorrhage | OMIM, PubMed |
| Thin basement membrane nephropathy | Heterozygous COL4A3 mutations reduce collagen IV deposition, resulting in hematuria and mild proteinuria | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Low |
| Cochlea | 15.2 | High |
| Eye (retina) | 10.1 | Medium |
| Testis | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.8 | Embryonic kidney cell line |
| A549 | 7.2 | Lung carcinoma cell line |
| HUVEC | 5.4 | Endothelial cells |
| Podocyte (differentiated) | 18.6 | High expression in glomerular podocytes |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Gly166Glu) | Missense | Rare | Disrupts collagen triple helix formation; associated with Alport syndrome |
| c.2680C>T (p.Arg894*) | Nonsense | Rare | Premature stop codon; loss of function; Alport syndrome |
| c.4421_4422del (p.Gly1474Valfs*2) | Frameshift | Rare | Truncated protein; severe Alport phenotype |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that reduce or abolish COL4A3 expression or function, leading to Alport syndrome.
Gain of Function (GOF)
Not reported for COL4A3.
Dominant Negative (DN)
Missense mutations (e.g., glycine substitutions) that incorporate mutant chains into collagen IV trimers, disrupting network assembly in autosomal dominant Alport syndrome.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen IV network formation (Reactome: R-HSA-2168880)
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The COL4A3 protein (UniProt Q01955) is 1670 amino acids long and contains a collagen triple helix repeat domain. It assembles into heterotrimers with COL4A4 and COL4A5 to form collagen IV networks in basement membranes. The NC1 domain is a target for autoantibodies in Goodpasture syndrome. Post-translational modifications include hydroxylation of proline and lysine residues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL4A3 Knockout HEK293 Cell Line | EDJ-KQ771 | Human | 1285 | Details Get a Quote |
| COL4A3 Knockout A-549 Cell Line | EDJ-KQ19472 | Human | 1285 | Details Get a Quote |
| COL4A3 Knockout HCT 116 Cell Line | EDJ-KQ19473 | Human | 1285 | Details Get a Quote |
| COL4A3 Knockout HeLa Cell Line | EDJ-KQ19474 | Human | 1285 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
