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

Gene ID: 392255, updated on 9-Jul-2017
Official Symbol
GDF6provided by HGNC
Official Full Name
growth differentiation factor 6provided by HGNC
Primary source
HGNC:HGNC:4221
See related
Ensembl:ENSG00000156466 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; BMP-13
Summary
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]
Orthologs
Location:
8q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 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 Neighboring gene mitochondrial transcription termination factor 3

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

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 IBA
Inferred from Biological aspect of Ancestor
more info
 
growth factor activity IEA
Inferred from Electronic Annotation
more info
 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
transforming growth factor beta receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
 
Process Evidence Code Pubs
BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
cell development IBA
Inferred from Biological aspect of Ancestor
more info
 
fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of p38MAPK cascade ISS
Inferred from Sequence or Structural Similarity
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 
regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
 
regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
 
retinal cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
growth/differentiation factor 6
Names
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 RefSeqGene

    Range
    5001..23460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001001557.3NP_001001557.1  growth/differentiation factor 6 preproprotein

    See identical proteins and their annotated locations for NP_001001557.1

    Status: REVIEWED

    Source sequence(s)
    AJ537424, CA423567
    Consensus CDS
    CCDS34926.1
    UniProtKB/Swiss-Prot
    Q6KF10
    UniProtKB/TrEMBL
    A0A0S2A5D6
    Related
    ENSP00000287020.4, OTTHUMP00000227272, ENST00000287020.6, OTTHUMT00000379862
    Conserved Domains (2) summary
    pfam00019
    Location:353454
    TGF_beta; Transforming growth factor beta like domain
    pfam00688
    Location:70281
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p7 Primary Assembly

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

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

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