COL4A5
Collagen Type IV Alpha 5 Chain
Gene Information Card
| Symbol | COL4A5 |
|---|---|
| Full Name | Collagen Type IV Alpha 5 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | Xq22.3 |
| NCBI Gene ID | 1287 ncbi.nlm.nih.gov/gene/1287 |
| Ensembl ID | ENSG00000188153 |
| UniProt ID | P29400 |
| OMIM ID | 303630 |
| HGNC ID | 2207 |
| Aliases | ASLN, CA54, COL4A5, collagen alpha-5(IV) chain |
Description
COL4A5 (Collagen Type IV Alpha 5 Chain) is a protein-coding gene located on the X chromosome. It encodes the alpha-5 chain of type IV collagen, a major structural component of basement membranes. This chain assembles into heterotrimers that form a network essential for the filtration barrier in the kidney glomerulus, as well as in the cochlea and eye. Mutations in COL4A5 are the primary cause of X-linked Alport syndrome, characterized by progressive kidney disease, sensorineural hearing loss, and ocular abnormalities.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked Alport syndrome | Loss-of-function mutations disrupt collagen IV network in glomerular basement membrane, leading to progressive nephritis and end-stage renal disease. | ClinVar, OMIM |
| Alport syndrome with hearing loss | Defective collagen IV in cochlear basement membranes causes sensorineural hearing loss. | OMIM, NCBI |
| Alport syndrome with ocular abnormalities | Abnormal collagen IV in lens capsule and retina leads to anterior lenticonus and retinopathy. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Testis | 6.1 | Low |
| Eye | 5.4 | Low |
| Cochlea | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| A549 | 9.8 | Lung carcinoma cells |
| HUVEC | 7.1 | Endothelial cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1555G>A (p.Gly519Arg) | Missense | Rare | Disrupts collagen triple helix formation, leading to Alport syndrome |
| c.2671C>T (p.Arg891*) | Nonsense | Rare | Premature stop, loss of function, severe Alport phenotype |
| c.2881+1G>A | Splice site | Rare | Splicing defect, exon skipping, reduced collagen IV secretion |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and splice-site mutations that reduce or eliminate COL4A5 protein, causing X-linked Alport syndrome.
Gain of Function (GOF)
Not reported for COL4A5.
Dominant Negative (DN)
Missense mutations (e.g., Gly substitutions) that incorporate mutant chains into collagen IV trimers, disrupting network assembly and function.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • extracellular matrix organization | • basement membrane |
| • collagen type IV trimer | • cell adhesion |
Pathways
• Collagen IV network formation
• Extracellular matrix organization
• Integrin signaling pathway
Protein Summary
The COL4A5 protein is a 1615-amino acid alpha-5 chain of type IV collagen. It contains a collagenous triple-helical domain with Gly-X-Y repeats and a non-collagenous (NC1) domain at the C-terminus. The NC1 domain mediates chain selection and trimer assembly. The protein is secreted and incorporated into basement membrane networks, providing structural support and filtration properties. Mutations in the collagenous domain often disrupt triple helix stability, while NC1 mutations impair trimerization.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL4A5 Knockout HEK293 Cell Line | EDJ-KQ773 | Human | 1287 | Details Get a Quote |
| COL4A5 Knockout A-549 Cell Line | EDJ-KQ18278 | Human | 1287 | Details Get a Quote |
| COL4A5 Knockout HCT 116 Cell Line | EDJ-KQ19479 | Human | 1287 | Details Get a Quote |
| COL4A5 Knockout HeLa Cell Line | EDJ-KQ19480 | Human | 1287 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
