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

Gene ID: 392255, updated on 2-Nov-2024

Summary

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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; AllianceGenome:HGNC:4221
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

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See GDF6 in Genome Data Viewer
Location:
8q22.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (96142333..96160806, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (97267652..97286137, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 19385 Neighboring gene uncharacterized LOC124901984 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:97224174-97224416 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27659 Neighboring gene ubiquinol-cytochrome c reductase binding protein Neighboring gene UQCRB antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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

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Related articles in PubMed

  1. Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents. Juberg RC, et al. J Med Genet, 1976 Jun. PMID 933127, Free PMC Article
  2. GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment. Clarke RA, et al. Genes (Basel), 2021 Aug 29. PMID 34573339, Free PMC Article
  3. Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family. Wolfman NM, et al. J Clin Invest, 1997 Jul 15. PMID 9218508, Free PMC Article
  4. In vitro regulation of expression of cartilage-derived morphogenetic proteins by growth hormone and insulinlike growth factor 1 in the bovine cricoid chondrocyte. Tomaski SM, et al. Arch Otolaryngol Head Neck Surg, 1999 Aug. PMID 10448738
  5. Regenerative Response of Degenerate Human Nucleus Pulposus Cells to GDF6 Stimulation. Hodgkinson T, et al. Int J Mol Sci, 2020 Sep 27. PMID 32992671, Free PMC Article

See all (48) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. A novel DNA methylation signature revealed GDF6 and RCC1 as potential prognostic biomarkers correlated with cell proliferation in clear cell renal cell carcinoma.
    Title: A novel DNA methylation signature revealed GDF6 and RCC1 as potential prognostic biomarkers correlated with cell proliferation in clear cell renal cell carcinoma.
  2. Bone morphogenetic protein 13 in hepatic stellate cells and hepatic fibrosis.
    Title: Bone morphogenetic protein 13 in hepatic stellate cells and hepatic fibrosis.
  3. GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment.
    Title: GDF6 Knockdown in a Family with Multiple Synostosis Syndrome and Speech Impairment.
  4. A Novel Human Long Noncoding RNA SCDAL Promotes Angiogenesis through SNF5-Mediated GDF6 Expression.
    Title: A Novel Human Long Noncoding RNA SCDAL Promotes Angiogenesis through SNF5-Mediated GDF6 Expression.
  5. siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference.
    Title: siRNA Mediate RNA Interference Concordant with Early On-Target Transient Transcriptional Interference.
  6. Rare heterozygous GDF6 variants in patients with renal anomalies.
    Title: Rare heterozygous GDF6 variants in patients with renal anomalies.
  7. miR-98 is involved in missed abortion by targeting GDF6 and FAPP2.
    Title: miR-98 is involved in missed abortion by targeting GDF6 and FAPP2.
  8. GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth.
    Title: GDF6-CD99 Signaling Regulates Src and Ewing Sarcoma Growth.
  9. Regenerative Response of Degenerate Human Nucleus Pulposus Cells to GDF6 Stimulation.
    Title: Regenerative Response of Degenerate Human Nucleus Pulposus Cells to GDF6 Stimulation.
  10. Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
    Title: Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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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
  
enables growth factor activity IEA
Inferred from Electronic Annotation
more info
  
enables identical protein binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in BMP signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in BMP signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
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 cell migration involved in metanephros development IEA
Inferred from Electronic Annotation
more info
  
involved_in epithelial cell migration IEA
Inferred from Electronic Annotation
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 positive regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of SMAD protein signal transduction IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of SMAD protein signal transduction IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of SMAD protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in positive regulation of chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of p38MAPK cascade ISS
Inferred from Sequence or Structural Similarity
more info
  
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
  

General protein information

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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_001001557.4 → NP_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, Q6PI58
    UniProtKB/TrEMBL
    A0A0S2A5D6
    Related
    ENSP00000287020.4, ENST00000287020.7
    Conserved Domains (2) summary
    cd13766
    Location:354 → 455
    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:79 → 281
    TGFb_propeptide; TGF-beta propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    97267652..97286137 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6KF10.1 GenPept UniProtKB/Swiss-Prot:Q6KF10

Gene LinkOut

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