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

Expression Atlas

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