GDF6

Last updated
GDF6
Identifiers
Aliases GDF6 , BMP-13, BMP13, CDMP2, KFM, KFS, KFS1, KFSL, LCA17, MCOP4, MCOPCB6, SCDO4, SGM1, growth differentiation factor 6, SYNS4
External IDs OMIM: 601147 MGI: 95689 HomoloGene: 40883 GeneCards: GDF6
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001001557

NM_013526

RefSeq (protein)

NP_001001557

NP_038554

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

Growth differentiation factor 6 (GDF6) is a protein that in humans is encoded by the GDF6 gene. [5]

Contents

Function

GDF6 belongs to the transforming growth factor beta superfamily and may regulate patterning of the ectoderm by interacting with bone 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 the epidermis [9] and bone and joint formation. [10] GDF6 induces genes related to the development of the epidermis and can bind directly to noggin, a gene that controls neural development, to block its effect. [9] GDF6 interacts with bone 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 as scoliosis and chondrodysplasia, Grebe type. [10]

Clinical significance

GDF6 is recurrently amplified and specifically expressed in 80% of the melanomas. Patients with less GDF6 had a lower risk of metastasis and a higher chance of survival. Since GDF6 expression is very low or undetectable in most healthy adult tissues its inhibition could be used to treat this lethal disease. [11] [ unreliable medical source ]

Related Research Articles

<span class="mw-page-title-main">Growth differentiation factor-9</span> Protein-coding gene in the species Homo sapiens

Growth/differentiation factor 9 is a protein that in humans is encoded by the GDF9 gene.

<span class="mw-page-title-main">Noggin (protein)</span> Protein-coding gene in the species Homo sapiens

Noggin, also known as NOG, is a protein that is involved in the development of many body tissues, including nerve tissue, muscles, and bones. In humans, noggin is encoded by the NOG gene. The amino acid sequence of human noggin is highly homologous to that of rat, mouse, and Xenopus.

<span class="mw-page-title-main">Bone morphogenetic protein 2</span> Protein-coding gene in the species Homo sapiens

Bone morphogenetic protein 2 or BMP-2 belongs to the TGF-β superfamily of proteins.

<span class="mw-page-title-main">Bone morphogenetic protein 4</span> Human protein and coding gene

Bone morphogenetic protein 4 is a protein that in humans is encoded by BMP4 gene. BMP4 is found on chromosome 14q22-q23.

<span class="mw-page-title-main">Bone morphogenetic protein 10</span> Protein-coding gene in the species Homo sapiens

Bone morphogenetic protein 10 (BMP10) is a protein that in humans is encoded by the BMP10 gene.

<span class="mw-page-title-main">Bone morphogenetic protein 8B</span> Protein-coding gene in the species Homo sapiens

Bone morphogenetic protein 8B is a protein that in humans is encoded by the BMP8B gene.

<span class="mw-page-title-main">Bone morphogenetic protein 6</span> Protein-coding gene in the species Homo sapiens

Bone morphogenetic protein 6 is a protein that in humans is encoded by the BMP6 gene.

<span class="mw-page-title-main">Bone morphogenetic protein 5</span> Protein-coding gene in the species Homo sapiens

Bone morphogenetic protein 5 is a protein that in humans is encoded by the BMP5 gene.

<span class="mw-page-title-main">Bone morphogenetic protein 1</span> Mammalian protein found in Homo sapiens

Bone morphogenetic protein 1, also known as BMP1, is a protein which in humans is encoded by the BMP1 gene. There are seven isoforms of the protein created by alternate splicing.

<span class="mw-page-title-main">Bone morphogenetic protein 3</span> Protein-coding gene in the species Homo sapiens

Bone morphogenetic protein 3, also known as osteogenin, is a protein in humans that is encoded by the BMP3 gene.

The transforming growth factor beta (TGFB) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiation, cell migration, apoptosis, cellular homeostasis and other cellular functions. The TGFB signaling pathways are conserved. In spite of the wide range of cellular processes that the TGFβ signaling pathway regulates, the process is relatively simple. TGFβ superfamily ligands bind to a type II receptor, which recruits and phosphorylates a type I receptor. The type I receptor then phosphorylates receptor-regulated SMADs (R-SMADs) which can now bind the coSMAD SMAD4. R-SMAD/coSMAD complexes accumulate in the nucleus where they act as transcription factors and participate in the regulation of target gene expression.

<span class="mw-page-title-main">BMPR2</span> Protein-coding gene in the species Homo sapiens

Bone morphogenetic protein receptor type II or BMPR2 is a serine/threonine receptor kinase encoded by the BMPR2 gene. It binds bone morphogenetic proteins, members of the TGF beta superfamily of ligands, which are involved in paracrine signaling. BMPs are involved in a host of cellular functions including osteogenesis, cell growth and cell differentiation. Signaling in the BMP pathway begins with the binding of a BMP to the type II receptor. This causes the recruitment of a BMP type I receptor, which the type II receptor phosphorylates. The type I receptor phosphorylates an R-SMAD, a transcriptional regulator.

<span class="mw-page-title-main">BMPR1A</span> Bone morphogenetic protein receptor

The bone morphogenetic protein receptor, type IA also known as BMPR1A is a protein which in humans is encoded by the BMPR1A gene. BMPR1A has also been designated as CD292.

<span class="mw-page-title-main">ACVR1</span> Protein-coding gene

Activin A receptor, type I (ACVR1) is a protein which in humans is encoded by the ACVR1 gene; also known as ALK-2. ACVR1 has been linked to the 2q23-24 region of the genome. This protein is important in the bone morphogenic protein (BMP) pathway which is responsible for the development and repair of the skeletal system. While knock-out models with this gene are in progress, the ACVR1 gene has been connected to fibrodysplasia ossificans progressiva, a very rare progressive genetic disease characterized by heterotopic ossification of muscles, tendons and ligaments. It is a bone morphogenetic protein receptor, type 1.

<span class="mw-page-title-main">TGF beta 2</span> Protein-coding gene in the species Homo sapiens

Transforming growth factor-beta 2 (TGF-β2) is a secreted protein known as a cytokine that performs many cellular functions and has a vital role during embryonic development. It is an extracellular glycosylated protein. It is known to suppress the effects of interleukin dependent T-cell tumors. There are two named isoforms of this protein, created by alternative splicing of the same gene.

Growth differentiation factors (GDFs) are a subfamily of proteins belonging to the transforming growth factor beta superfamily that have functions predominantly in development.

<span class="mw-page-title-main">GDF3</span> Protein-coding gene in humans

Growth differentiation factor-3 (GDF3), also known as Vg-related gene 2 (Vgr-2) is protein that in humans is encoded by the GDF3 gene. GDF3 belongs to the transforming growth factor beta (TGF-β) superfamily. It has high similarity to other TGF-β superfamily members including Vg1 and GDF1.

<span class="mw-page-title-main">GDF5</span> Protein-coding gene in the species Homo sapiens

Growth/differentiation factor 5 is a protein that in humans is encoded by the GDF5 gene.

<span class="mw-page-title-main">GDF7</span> Protein-coding gene in the species Homo sapiens

Growth differentiation factor 7 (GDF7) is a protein that in humans is encoded by the GDF7 gene.

<span class="mw-page-title-main">GDF10</span> Protein-coding gene in the species Homo sapiens

Growth differentiation factor 10 (GDF10) also known as bone morphogenetic protein 3B (BMP-3B) is a protein that in humans is encoded by the GDF10 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000156466 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051279 - Ensembl, 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. 1 2 3 Chang 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. 1 2 Settle 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.
  11. Venkatesan AM, Vyas R, Gramann AK, Dresser K, Gujja S, Bhatnagar S, Chhangawala S, Gomes CB, Xi HS, Lian CG, Houvras Y, Edwards YJ, Deng A, Green M, Ceol CJ (2017). "Ligand-activated BMP signaling inhibits cell differentiation and death to promote melanoma". The Journal of Clinical Investigation. 128 (1): 294–308. doi:10.1172/JCI92513. PMC   5749509 . PMID   29202482.

Further reading