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

Gene ID: 392255, updated on 11-Jun-2021

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
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Genomic context

See GDF6 in Genome Data Viewer
Location:
8q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (96142333..96160806, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (97154561..97173034, 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 ubiquinol-cytochrome c reductase binding protein Neighboring gene UQCRB antisense RNA 1 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 Functions

What's a GeneRIF?

Pathways from PubChem

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
enables cytokine activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in SMAD protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
involved_in apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_or_within_positive_effect metanephros development IDA
Inferred from Direct Assay
more info
PubMed 
involved_in pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of p38MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of pathway-restricted SMAD protein phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in retinal cell apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
is_active_in 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)

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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
    4987..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, ENST00000287020.7
    Conserved Domains (2) summary
    cd13766
    Location:354455
    TGF_beta_GDF5_6_7; transforming growth factor beta (TGF-beta) like domain found in growth/differentiation factor 5 (GDF5), factor 6 (GDF6), factor 7 (GDF7) and similar proteins
    pfam00688
    Location:79281
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    96142333..96160806 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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