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. Is expressed in head. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy; dystonia 27; and muscular dystrophy. Orthologous to human COL6A3 (collagen type VI alpha 3 chain).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 IPR013783 Immunoglobulin-like fold
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 Immunoglobulin-like fold 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:F6NRG0 824
UniProtKB:F1Q4X1 2854
UniProtKB:F1QV92 320
UniProtKB:F1QKE8 3733
UniProtKB:F1QMR9 305
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Citations