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

    Gene ID: 392255, updated on 12-Jan-2019

    Summary

    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
    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; SYNS4; 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]
    Expression
    Biased expression in placenta (RPKM 7.2), gall bladder (RPKM 1.8) and 6 other tissues See more
    Orthologs

    Genomic context

    See GDF6 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (96142333..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

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Pathways from BioSystems

    • 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...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
    PubMed 
    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
    PubMed 
    Process Evidence Code Pubs
    BMP signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    BMP signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    SMAD protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    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
    PubMed 
    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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
    PubMed 
    regulation of apoptotic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    regulation of signaling receptor activity IEA
    Inferred from Electronic Annotation
    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
    PubMed 

    General protein information

    Preferred Names
    growth/differentiation factor 6
    Names
    bone morphogenetic protein 13
    growth/differentiation factor 16

    NCBI Reference Sequences (RefSeq)

    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_001001557.4NP_001001557.1  growth/differentiation factor 6 preproprotein

      See identical proteins and their annotated locations for NP_001001557.1

      Status: REVIEWED

      Source sequence(s)
      AJ537424, AP003465, CA423567
      Consensus CDS
      CCDS34926.1
      UniProtKB/Swiss-Prot
      Q6KF10
      UniProtKB/TrEMBL
      A0A0S2A5D6
      Related
      ENSP00000287020.4, ENST00000287020.6
      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 109

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      96142333..96160792 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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