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GDF6

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
GDF6
Identifiers
AliasesGDF6, BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1, growth differentiation factor 6, SYNS4
External IDsOMIM:601147;MGI:95689;HomoloGene:40883;GeneCards:GDF6;OMA:GDF6 - orthologs
Gene location (Human)
Chromosome 8 (human)
Chr.Chromosome 8 (human)[1]
Chromosome 8 (human)
Genomic location for GDF6
Genomic location for GDF6
Band8q22.1Start96,142,333bp[1]
End96,160,806bp[1]
Gene location (Mouse)
Chromosome 4 (mouse)
Chr.Chromosome 4 (mouse)[2]
Chromosome 4 (mouse)
Genomic location for GDF6
Genomic location for GDF6
Band4|4 A1Start9,844,372bp[2]
End9,862,345bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • placenta

  • gonad

  • ventricular zone

  • gallbladder

  • right auricle of heart

  • gastric mucosa

  • right coronary artery

  • Achilles tendon

  • smooth muscle tissue

  • left coronary artery
Top expressed in
  • auditory ossicle

  • stapes

  • incus

  • malleus

  • ganglion

  • embryo

  • Jacobson's organ

  • sensory ganglion

  • genital tubercle

  • trigeminal ganglion
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

392255

242316

Ensembl

ENSG00000156466

ENSMUSG00000051279

UniProt

Q6KF10

P43028

RefSeq (mRNA)

NM_001001557

NM_013526

RefSeq (protein)

NP_001001557

NP_038554

Location (UCSC)Chr 8: 96.14 – 96.16 MbChr 4: 9.84 – 9.86 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Growth differentiation factor 6 (GDF6) is aprotein that in humans is encoded by theGDF6gene.[5]

Function

[edit]

GDF6 belongs to thetransforming growth factor beta superfamily and may regulate patterning of theectoderm by interacting withbone morphogenetic proteins,[6] and control eye development.[7][8]

Growth differentiation factor 6 (GDF6) is a regulatory protein associated with growth and differentiation of developing embryos. GDF6 is encoded by the GDF6 gene. It is a member the transforming growth factor beta superfamily which is a group of proteins involved in early regulation of cell growth and development. GDF6 has been shown to play an important role in the patterning of theepidermis[9] and bone and joint formation.[10] GDF6 induces genes related to the development of the epidermis and can bind directly tonoggin, a gene that controls neural development, to block its effect.[9] GDF6 interacts withbone morphogenetic proteins (BMPs) to form heterodimers that may work to regulate neural induction and patterning in developing embryos.[9] By developing a GDF6 “knockout” model, scientists repressed expression of GDF6 in developing mice embryos. Through this experiment, the scientists were able to directly link GDF6 with several skull and vertebral joint disorders, such asscoliosis andchondrodysplasia, Grebe type.[10]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000156466Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000051279Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^Davidson AJ, Postlethwait JH, Yan YL, Beier DR, van Doren C, Foernzler D, Celeste AJ, Crosier KE, Crosier PS (February 1999)."Isolation of zebrafish gdf7 and comparative genetic mapping of genes belonging to the growth/differentiation factor 5, 6, 7 subgroup of the TGF-beta superfamily".Genome Res.9 (2):121–9.doi:10.1101/gr.9.2.121.PMID 10022976.
  6. ^Chang C, Hemmati-Brivanlou A (1999). "Xenopus GDF6, a new antagonist of noggin and a partner of BMPs".Development.126 (15):3347–57.doi:10.1242/dev.126.15.3347.PMID 10393114.
  7. ^Asai-Coakwell M, French C, Berry K, Ye M, Koss R, Somerville M, Mueller R, van Heyningen V, Waskiewicz A, Lehmann O (2007)."GDF6, a Novel Locus for a Spectrum of Ocular Developmental Anomalies".Am J Hum Genet.80 (2):306–15.doi:10.1086/511280.PMC 1785352.PMID 17236135.
  8. ^Hanel M, Hensey C (2006)."Eye and neural defects associated with loss of GDF6".BMC Dev Biol.6: 43.doi:10.1186/1471-213X-6-43.PMC 1609107.PMID 17010201.
  9. ^abcChang C, Hemmati-Brivanlou A (August 1999). "Xenopus GDF6, a new antagonist of noggin and a partner of BMPs".Development.126 (15):3347–57.doi:10.1242/dev.126.15.3347.PMID 10393114.
  10. ^abSettle SH, Rountree RB, Sinha A, Thacker A, Higgins K, Kingsley DM (February 2003)."Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes".Dev. Biol.254 (1):116–30.doi:10.1016/S0012-1606(02)00022-2.PMID 12606286.

Further reading

[edit]
TGF beta superfamily of ligands
Ligand ofACVR orTGFBR
Ligand ofBMPR
TGF beta receptors
(Activin,BMP,family)
TGFBR1:
TGFBR2:
TGFBR3:
Transducers/SMAD
Ligand inhibitors
Coreceptors
Other
Type I
ALK1 (ACVRL1)
ALK2 (ACVR1A)
ALK3 (BMPR1A)
ALK4 (ACVR1B)
ALK5 (TGFβR1)
ALK6 (BMPR1B)
ALK7 (ACVR1C)
Type II
TGFβR2
BMPR2
ACVR2A (ACVR2)
ACVR2B
AMHR2 (AMHR)
Type III
TGFβR3 (β-glycan)
Unsorted


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