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 SMAD protein signal transduction and positive regulation of pathway-restricted SMAD protein phosphorylation. 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
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
Microphthalmia with coloboma 6, digenic 613703
Multiple synostoses syndrome 4 617898
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
Domain Details Per Protein
Protein Length Cystine-knot cytokine TGF-beta, propeptide Transforming growth factor beta, conserved site Transforming growth factor-beta, C-terminal Transforming growth factor-beta-related
UniProtKB:A8E7N9 412
UniProtKB:B3DJ43 412
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations