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
Expression
All Expression Data
3 figures from 3 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col4a3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant Alport syndrome Alliance Alport syndrome 3, autosomal dominant 104200
autosomal recessive Alport syndrome Alliance Alport syndrome 2, autosomal recessive 203780
benign familial hematuria Alliance Hematuria, benign familial 141200
Associated With col4a3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR001442 Collagen IV, non-collagenous
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 Length Collagen IV, non-collagenous Collagen IV, non-collagenous domain superfamily Collagen triple helix repeat C-type lectin fold
UniProtKB:F1R5V4 920
UniProtKB:Q58FS7 244
UniProtKB:A0A2R8QRR0 173
UniProtKB:X1WCV8 1684
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations