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

Acts upstream of or within axonogenesis; muscle cell development; and muscle organ development. Predicted to be part of collagen trimer. Predicted to be active in extracellular matrix. Is expressed in several structures, including cardiovascular system; digestive system; head; integument; and musculature system. Human ortholog(s) of this gene implicated in Bethlem myopathy and Ullrich congenital muscular dystrophy 1B. Orthologous to human COL6A2 (collagen type VI alpha 2 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

16 figures from 6 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7156276 (17 images)

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
Ullrich congenital muscular dystrophy 1B	Alliance	Ullrich congenital muscular dystrophy 1B	620727
		Bethlem myopathy 1B	620725
		?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
Family	IPR052229	Collagen VI and Biomineralization Protein PIF
Homologous_superfamily	IPR036465	von Willebrand factor A-like domain superfamily
Repeat	IPR008160	Collagen triple helix repeat