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 enable cytokine activity. Predicted to be involved in BMP signaling pathway. Predicted to be located in extracellular region. Predicted to be active in 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

Daniocell

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