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GDF6 growth differentiation factor 6 [ Homo sapiens (human) ]

Gene ID: 392255, updated on 26-Aug-2014
Official Symbol
GDF6provided by HGNC
Official Full Name
growth differentiation factor 6provided by HGNC
Primary source
HGNC:4221
See related
Ensembl:ENSG00000156466; HPRD:11002; MIM:601147; Vega:OTTHUMG00000164710
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; LCA17; MCOP4; SCDO4; BMP-13; MCOPCB6
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]
See GDF6 in Epigenomics, MapViewer
Location:
8q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 8 NC_000008.11 (96142330..96160792, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (97154558..97173020, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene glyceraldehyde 3 phosphate dehydrogenase pseudogene 30 Neighboring gene tubulin, beta class I pseudogene 7 Neighboring gene uncharacterized LOC101927039 Neighboring gene ubiquinol-cytochrome c reductase binding protein

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Hippo signaling pathway, organism-specific biosystem (from KEGG)
    Hippo signaling pathway, organism-specific biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • Hippo signaling pathway, conserved biosystem (from KEGG)
    Hippo signaling pathway, conserved biosystemHippo signaling is an evolutionarily conserved signaling pathway that controls organ size from flies to humans. In humans and mice, the pathway consists of the MST1 and MST2 kinases, their cofactor S...
  • TGF-beta signaling pathway, organism-specific biosystem (from KEGG)
    TGF-beta signaling pathway, organism-specific biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
  • TGF-beta signaling pathway, conserved biosystem (from KEGG)
    TGF-beta signaling pathway, conserved biosystemThe transforming growth factor-beta (TGF-beta) family members, which include TGF-betas, activins and bone morphogenetic proteins (BMPs), are structurally related secreted cytokines found in species r...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC158100, MGC158101

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cytokine activity IEA
Inferred from Electronic Annotation
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
growth IEA
Inferred from Electronic Annotation
more info
 
pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
retinal cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular space IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
growth/differentiation factor 6
Names
growth/differentiation factor 6
GDF-6
Klippel-Feil syndrome
Klip-Feil malformation
Klippel-Feil malformation
bone morphogenetic protein 13
growth/differentiation factor 16

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008981.1 

    Range
    5001..23463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001557.2NP_001001557.1  growth/differentiation factor 6 precursor

    See proteins identical to NP_001001557.1

    Status: REVIEWED

    Source sequence(s)
    AJ537424, AP003465
    Consensus CDS
    CCDS34926.1
    UniProtKB/Swiss-Prot
    Q6KF10
    Related
    ENSP00000287020, OTTHUMP00000227272, ENST00000287020, OTTHUMT00000379862
    Conserved Domains (2) summary
    smart00204
    Location:354455
    Blast Score: 467
    TGFB; Transforming growth factor-beta (TGF-beta) family
    pfam00688
    Location:68281
    Blast Score: 312
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000008.11 

    Range
    96142330..96160792
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000140.1 

    Range
    92360118..92378582
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 

    Range
    97194809..97213265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)