Homo sapiens Gene: GDF6
Summary
InnateDB Gene IDBG-29375.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GDF6
Gene Name growth differentiation factor 6
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000156466
Encoded Proteins
growth differentiation factor 6
growth differentiation factor 6
growth differentiation factor 6
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:96142330-96160792
Strand Reverse strand
Band q22.1
Transcripts
ENST00000287020 ENSP00000287020
ENST00000621429 ENSP00000483711
ENST00000620978 ENSP00000480170
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005125 cytokine activity
GO:0008083 growth factor activity
GO:0042803 protein homodimerization activity
Biological Process
GO:0006915 apoptotic process
GO:0010862 positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0030509 BMP signaling pathway
GO:0032924 activin receptor signaling pathway
GO:0040007 growth
GO:0045666 positive regulation of neuron differentiation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0060389 pathway-restricted SMAD protein phosphorylation
GO:1990009 retinal cell apoptotic process
Cellular Component
GO:0005615 extracellular space
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
TGF-beta signaling pathway pathway
INOH
GPCR signaling pathway
TGF-beta signaling pathway
BMP2 signaling pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL A0PK22 M1L0V3 M1L5L6
UniProt Splice Variant
Entrez Gene 392255
UniGene
RefSeq NM_001001557
HUGO HGNC:4221
OMIM 601147
CCDS CCDS34926
HPRD
IMGT
EMBL BC127947 KC174776 KC174777
GenPept AAI27948 AGF34263 AGF34264
RNA Seq Atlas 392255