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 be an extracellular matrix structural constituent. Predicted to be involved in extracellular matrix organization. Predicted to be located in basement membrane; extracellular region; and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix and extracellular space. Is expressed in hypodermis; lens; and solid lens vesicle. 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 disease. 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
- 7 figures from 6 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 | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col4a3-201
(1)
|
Ensembl | 2,763 nt | ||
mRNA |
col4a3-202
(1)
|
Ensembl | 9,477 nt | ||
mRNA |
col4a3-203
(1)
|
Ensembl | 735 nt |
Interactions and Pathways
No data available
Plasmids
No data available