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 retinal cell apoptotic process. Acts upstream of or within 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 several diseases, including Klippel-Feil syndrome 1; Leber congenital amaurosis 17; cleft lip; isolated microphthalmia 4; and multiple synostoses syndrome. Orthologous to human GDF6 (growth differentiation factor 6).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
35 figures from 24 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
69 figures from 23 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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations