Gene
col4a4
- ID
- ZDB-GENE-101001-1
- Name
- collagen, type IV, alpha 4
- Symbol
- col4a4 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within glomerular basement membrane development and glomerular filtration. Predicted to be located in basement membrane and extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including gill; gonad primordium; hypodermis; lens; and pronephros. Used to study Alport syndrome. Human ortholog(s) of this gene implicated in autosomal recessive Alport syndrome; benign familial hematuria; and end stage renal disease. Orthologous to human COL4A4 (collagen type IV alpha 4 chain).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Naylor et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
autosomal recessive Alport syndrome | Alliance | Alport syndrome 2, autosomal recessive | 203780 |
benign familial hematuria | Alliance | Hematuria, familial benign, 1 | 141200 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Alport syndrome | WT + CRISPR1-col4a4 + CRISPR2-col4a4 + CRISPR3-col4a4 + CRISPR4-col4a4 | standard conditions | Naylor et al., 2022 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Collagen IV, non-collagenous | Collagen IV, non-collagenous domain superfamily | Collagen superfamily | Collagen triple helix repeat | C-type lectin fold |
---|---|---|---|---|---|---|
UniProtKB:X1WFR7
|
1670 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col4a4-201
(1)
|
Ensembl | 10,607 nt | ||
mRNA |
col4a4-202
(1)
|
Ensembl | 723 nt |
Interactions and Pathways
No data available
Plasmids
No data available