Gene
col4a3
- ID
- ZDB-GENE-070802-4
- Name
- collagen, type IV, alpha 3
- Symbol
- col4a3 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to localize to collagen type IV trimer and extracellular space. Human ortholog(s) of this gene implicated in Alport syndrome; autosomal dominant Alport syndrome; autosomal recessive Alport syndrome; benign familial hematuria; and end stage renal failure. Is expressed in hypodermis. Orthologous to human COL4A3 (collagen type IV alpha 3 chain).
- Genome Resources
- Note
-
Gene characterized by MacDonald et al. (2007) by NC1 domain only.
- Comparative Information
-
- All Expression Data
- 5 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 dominant Alport syndrome | Alliance | Alport syndrome 3A, autosomal dominant | 104200 |
Alport syndrome 3B, autosomal recessive | 620536 | ||
Hematuria, benign familial, 2 | 620320 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Alport syndrome | WT + CRISPR1-col4a3 + CRISPR2-col4a3 + CRISPR3-col4a3 + CRISPR4-col4a3 | 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:A0A8N7TBD4
|
1664 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
col4a3-201
(1)
|
Ensembl | 2763 nt | |
mRNA |
col4a3-202
(1)
|
Havana | 9477 nt | |
mRNA |
col4a3-203
(1)
|
Ensembl | 735 nt |
Interactions and Pathways
No data available
Plasmids
No data available