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. Is expressed in several structures, including blood vessel; digestive system; fin; immature eye; and nervous system. 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. Orthologous to human GDF6 (growth differentiation factor 6).
Genome Resources
Note
None
Expression
All Expression Data
34 figures from 23 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
59 figures from 22 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
Microphthalmia with coloboma 6, digenic 613703
Multiple synostoses syndrome 4 617898
Associated With gdf6a Via Experimental Models
Human Disease Fish Conditions Citations
microphthalmia gdf6as327/s327 standard conditions French et al., 2013
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
Protein Length
UniProtKB:P85857 404
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations