Gene

gdf6a

ID

ZDB-GENE-980526-373

Name

growth differentiation factor 6a

Symbol

gdf6a Nomenclature History

Previous Names

GDF6a (1)
bmp13a (1)
cb278 (1)
darl
out
radar (1)
rdr
sb:cb278

Type

protein_coding_gene

Location

Chr: 16 Mapping Details/Browsers

Description

Involved in several processes, including blood vessel development; camera-type eye development; and regulation of signal transduction. Used to study microphthalmia. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 17; bone disease (multiple); cleft lip; cleft palate; and isolated microphthalmia 4. Is expressed in several structures, including blood vessel; digestive system; fin; immature eye; and nervous system. Orthologous to human GDF6 (growth differentiation factor 6).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

37 figures from 26 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb278 (30 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 71 figures from 24 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gdf6a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
isolated microphthalmia 4	Alliance	Microphthalmia, isolated 4	613094
Klippel-Feil syndrome 1	Alliance	Klippel-Feil syndrome 1, autosomal dominant	118100
Leber congenital amaurosis 17	Alliance	Leber congenital amaurosis 17	615360
multiple synostoses syndrome 4	Alliance	Multiple synostoses syndrome 4	617898
		Microphthalmia with coloboma 6, digenic	613703

Associated With gdf6a Via Experimental Models

Human Disease	Fish	Conditions	Citations
microphthalmia	gdf6a^s327/s327	standard conditions	French et al., 2013

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR017948	Transforming growth factor beta, conserved site
Domain	IPR001111	TGF-beta, propeptide
Domain	IPR001839	Transforming growth factor-beta, C-terminal
Family	IPR015615	Transforming growth factor-beta-related
Homologous_superfamily	IPR029034	Cystine-knot cytokine