Gene

gdf6b

ID

ZDB-GENE-980526-442

Name

growth differentiation factor 6b

Symbol

gdf6b Nomenclature History

Previous Names

bmp13b (1)
dynamo (1)

Type

protein_coding_gene

Location

Chr: 19 Mapping Details/Browsers

Description

Predicted to have cytokine activity. Predicted to be involved in BMP signaling pathway; SMAD protein signal transduction; and positive regulation of pathway-restricted SMAD protein phosphorylation. Predicted to localize to extracellular space. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 17; bone disease (multiple); cleft lip; cleft palate; and isolated microphthalmia 4. Orthologous to human GDF6 (growth differentiation factor 6).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

2 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gdf6b 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 gdf6b Via Experimental Models

No data available

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