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; extracellular region; and membrane. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix and extracellular space. Is expressed in hypodermis; lens; pharyngeal arch 3-7; pronephric glomerulus; and solid lens vesicle. 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
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001442 | Collagen IV, non-collagenous |
| Family | IPR050938 | Collagen and Collagen-like Structural Proteins |
| Homologous_superfamily | IPR016187 | C-type lectin fold |
| Homologous_superfamily | IPR036954 | Collagen IV, non-collagenous domain superfamily |
| Repeat | IPR008160 | Collagen triple helix repeat |
Domain Details Per Protein
| Protein | Additional Resources | Length | Collagen and Collagen-like Structural Proteins | Collagen IV, non-collagenous | Collagen IV, non-collagenous domain superfamily | Collagen triple helix repeat | C-type lectin fold |
|---|---|---|---|---|---|---|---|
| UniProtKB:X1WFR7 | InterPro | 1670 | |||||
| UniProtKB:A0AB32T1Z5 | InterPro | 1669 |
| 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