Gene

col6a2

ID
ZDB-GENE-070501-7
Name
collagen, type VI, alpha 2
Symbol
col6a2 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 11 Mapping Details/Browsers
Description
Involved in axonogenesis; muscle fiber development; and muscle organ development. Predicted to localize to collagen-containing extracellular matrix and extracellular space. Is expressed in several structures, including anterior segment eye; gut; integument; musculature system; and yolk syncytial layer. Human ortholog(s) of this gene implicated in Ullrich congenital muscular dystrophy. Orthologous to human COL6A2 (collagen type VI alpha 2 chain).
Genome Resources
Note
None
Expression
All Expression Data
12 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from Ramanoudjame et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With col6a2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bethlem myopathy Alliance Bethlem myopathy 1 158810
Ullrich congenital muscular dystrophy Alliance Ullrich congenital muscular dystrophy 1 254090
?Myosclerosis, congenital 255600
Associated With col6a2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002035 von Willebrand factor, type A
Homologous_superfamily IPR036465 von Willebrand factor A-like domain superfamily
Repeat IPR008160 Collagen triple helix repeat
Domain Details Per Protein
Protein Length Collagen triple helix repeat von Willebrand factor A-like domain superfamily von Willebrand factor, type A
UniProtKB:A3KNX1 310
UniProtKB:E7FCV8 1015
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-col6a2 polyclonal Rabbit
Abgent
1
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations