Gene
col4a5
- ID
- ZDB-GENE-030131-2281
- Name
- collagen, type IV, alpha 5 (Alport syndrome)
- Symbol
- col4a5 Nomenclature History
- Previous Names
-
- dragnet (1)
- drg
- wu:fc02g11
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to be an extracellular matrix structural constituent. Acts upstream of or within axonogenesis and basement membrane organization. Predicted to be located in extracellular region and membrane. Predicted to be part of collagen trimer. Predicted to be active in basement membrane and extracellular space. Is expressed in several structures, including digestive system; integument; nervous system; neural tube; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in Alport syndrome and X-linked Alport syndrome. Orthologous to human COL4A5 (collagen type IV alpha 5 chain).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 17 figures from 9 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu2431 (19 images)
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
X-linked Alport syndrome | Alliance | Alport syndrome 1, X-linked | 301050 |
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:A0A8M9QBN0
|
1685 | |||||
UniProtKB:A0A8M2BDZ6
|
1679 | |||||
UniProtKB:A0A8N7UYU7
|
1659 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
col4a5-201
(1)
|
Ensembl | 6,451 nt | ||
mRNA |
col4a5-202
(1)
|
Ensembl | 4,980 nt |
Interactions and Pathways
No data available
Plasmids
No data available