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 enable serine-type endopeptidase inhibitor activity. Acts upstream of or within axon extension and motor neuron axon guidance. Predicted to be located in extracellular region. Predicted to be part of collagen trimer. Predicted to be active in collagen-containing extracellular matrix. Is expressed in several structures, including cardiovascular system; digestive system; head; muscle; and spleen. Used to study Ullrich congenital muscular dystrophy. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); chronic kidney disease; dystonia 27; muscular dystrophy (multiple); and primary open angle glaucoma. Orthologous to human COL6A3 (collagen type VI alpha 3 chain).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

5 figures from 3 publications

Cross-Species Comparison

High Throughput Data

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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
dystonia 27	Alliance	Dystonia 27	616411
Ullrich congenital muscular dystrophy 1C	Alliance	Ullrich congenital muscular dystrophy 1C	620728
		Bethlem myopathy 1C	620726

Associated With col6a3 Via Experimental Models

Human Disease	Fish	Conditions	Citations
Ullrich congenital muscular dystrophy	AB + MO1-col6a3	standard conditions	Telfer et al., 2010

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

No data available

Domain Details Per Protein

Protein	Additional Resources	Length
UniProtKB:A0A8M9Q514	InterPro	10897
UniProtKB:A0A8M6Z141	InterPro	10924
UniProtKB:A0A8M6Z0G5	InterPro	10986
UniProtKB:A0A8M9QFY4	InterPro	10959
UniProtKB:A0AB32TJA3	InterPro	12763
UniProtKB:A0AB32TMZ5	InterPro	12825
UniProtKB:A0AB32U315	InterPro	12798

Transcripts

Genome Browsers

NCBI

Ensembl

ZFIN

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	col6a3-201 (1) Ensembl	Ensembl	8,565 nt	Select Tool ZFIN BLAST
mRNA	col6a3-203 (1) Ensembl	Ensembl	914 nt	Select Tool ZFIN BLAST
mRNA	col6a3-205 (1) Ensembl	Ensembl	11,949 nt	Select Tool ZFIN BLAST
mRNA	col6a3-206 (1) Ensembl	Ensembl	1,209 nt	Select Tool ZFIN BLAST
mRNA	col6a3-207 (1) Ensembl	Ensembl	2,697 nt	Select Tool ZFIN BLAST
ncRNA	col6a3-003 (1) Ensembl	Ensembl	849 nt	Select Tool ZFIN BLAST
ncRNA	col6a3-005 (1) Ensembl	Ensembl	894 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance

Citations