Gene

col6a3

ID
ZDB-GENE-070501-8
Name
collagen, type VI, alpha 3
Symbol
col6a3 Nomenclature History
Previous Names
  • wu:fb06e12
  • wu:fs74g09
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have serine-type endopeptidase inhibitor activity. Involved in axon extension and motor neuron axon guidance. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy; dystonia 27; and muscular dystrophy. Is expressed in head. Orthologous to human COL6A3 (collagen type VI alpha 3 chain).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col6a3 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bethlem myopathy Alliance Bethlem myopathy 1 158810
dystonia 27 Alliance Dystonia 27 616411
Ullrich congenital muscular dystrophy Alliance Ullrich congenital muscular dystrophy 1 254090
Associated With col6a3 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR020901 Proteinase inhibitor I2, Kunitz, conserved site
Domain IPR002035 von Willebrand factor, type A
Domain IPR002223 Pancreatic trypsin inhibitor Kunitz domain
Homologous_superfamily IPR036465 von Willebrand factor A-like domain superfamily
Homologous_superfamily IPR036880 Pancreatic trypsin inhibitor Kunitz domain superfamily
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat Pancreatic trypsin inhibitor Kunitz domain Pancreatic trypsin inhibitor Kunitz domain superfamily Proteinase inhibitor I2, Kunitz, conserved site von Willebrand factor A-like domain superfamily von Willebrand factor, type A
UniProtKB:F1QV92 320
UniProtKB:F1QMR9 305
UniProtKB:F6NRG0 824
UniProtKB:F1QKE8 3733
UniProtKB:F1Q4X1 2854
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
Citations