Property Summary

NCBI Gene PubMed Count 33
PubMed Score 188.68
PubTator Score 329.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 1.200 1.5e-07

Gene RIF (17)

PMID Text
26184900 As fetal age increased, the expression of growth differentiation factor 6 was decreased correspondingly with the progress of ossification in vertebral bodies and restricted to cartilaginous regions.
26134557 BMP13 has a role in enhancing extracellular matrix accumulation and inducing cell migration in certain intervertebral disc cells
25416513 There was a possible weak association between the rs6982567 near GDF6 and polypoidal choroidal vasculopathy in this replication study with an independent Han Chinese cohort.
24442880 GDF6 is overexpressed in Leri's pleonosteosis.
23307924 Deficiency of gdf6 results in photoreceptor degeneration, so demonstrating a connection between Gdf6 signaling and photoreceptor survival.
22049084 a critical role of HTRA1 in the regulation of angiogenesis via TGF-beta signaling and identified GDF6 as a novel disease gene for AMD.
21702718 studies show that even though tenogenic (BMP 12 and BMP 13) and osteogenic (BMP2) BMPs bind the same receptors with high affinity they signal much differently and result in differential activation of osteogenic and tenogenic markers
20734064 Observational study of gene-disease association. (HuGE Navigator)
20494911 Observational study of gene-disease association. (HuGE Navigator)
20334610 induces ligamentogenic differentiation in mesenchymal progenitors
20057906 Observational study of gene-disease association. (HuGE Navigator)
19492402 These data suggest a potential role for BMP-13 (the human homologue to GDF-6) in tendon matrix modeling and/or remodeling.
19240811 BMP-13 inhibited osteogenic differentiation of bone marrow multipotent mesenchymal stromal cells, implying that functional mutations or deficiency of BMP-13 may allow excess bone formation
19129173 These data establish the important role of growth differentiation factor 6 in ocular and vertebral development.
18716610 Observational study of gene-disease association. (HuGE Navigator)
18425797 Mutation screening of a large and clinically diverse Klippel-Feil syndrome (KFS) cohort has identified GDF6 missense mutations in both familial and sporadic KFS patients.
17236135 The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development.

AA Sequence

MDTPRVLLSAVFLISFLWDLPGFQQASISSSSSSAELGSTKGMRSRKEGKMQRAPRDSDAGREGQEPQPR      1 - 70
PQDEPRAQQPRAQEPPGRGPRVVPHEYMLSIYRTYSIAEKLGINASFFQSSKSANTITSFVDRGLDDLSH     71 - 140
TPLRRQKYLFDVSMLSDKEELVGAELRLFRQAPSAPWGPPAGPLHVQLFPCLSPLLLDARTLDPQGAPPA    141 - 210
GWEVFDVWQGLRHQPWKQLCLELRAAWGELDAGEAEARARGPQQPPPPDLRSLGFGRRVRPPQERALLVV    211 - 280
FTRSQRKNLFAEMREQLGSAEAAGPGAGAEGSWPPPSGAPDARPWLPSPGRRRRRTAFASRHGKRHGKKS    281 - 350
RLRCSKKPLHVNFKELGWDDWIIAPLEYEAYHCEGVCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCC    351 - 420
VPTKLTPISILYIDAGNNVVYKQYEDMVVESCGCR                                       421 - 455
//

Text Mined References (34)

PMID Year Title
26643732 2016 A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal.
26184900 2016 Expression of growth differentiation factor 6 in the human developing fetal spine retreats from vertebral ossifying regions and is restricted to cartilaginous tissues.
26134557 2015 Localization of bone morphogenetic protein 13 in human intervertebral disc and its molecular and functional effects in vitro in 3D culture.
25416513 2014 Association of rs6982567 near GDF6 with neovascular age-related macular degeneration and polypoidal choroidal vasculopathy in a Han Chinese cohort.
24442880 2015 Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
23307924 2013 Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
22049084 2012 High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-? family member growth differentiation factor 6.
21702718 2011 Divergent activities of osteogenic BMP2, and tenogenic BMP12 and BMP13 independent of receptor binding affinities.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20494911 2010 Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
20334610 2010 BMP12 and BMP13 gene transfer induce ligamentogenic differentiation in mesenchymal progenitor and anterior cruciate ligament cells.
20057906 2009 Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
19864492 2010 Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
19492402 2009 Sexual dimorphism in the effect of GDF-6 deficiency on murine tendon.
19240811 2009 BMP-13 emerges as a potential inhibitor of bone formation.
19129173 2009 Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes.
18716610 2009 Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.
18425797 2008 Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome.
17236135 2007 GDF6, a novel locus for a spectrum of ocular developmental anomalies.
16049014 2005 Identification of receptors and signaling pathways for orphan bone morphogenetic protein/growth differentiation factor ligands based on genomic analyses.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15246821 2004 BMP signaling initiates a neural crest differentiation program in embryonic rat CNS stem cells.
12606286 2003 Multiple joint and skeletal patterning defects caused by single and double mutations in the mouse Gdf6 and Gdf5 genes.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12027540 2002 Cartilage-derived morphogenetic protein-1 and -2 are endogenously expressed in healthy and osteoarthritic human articular chondrocytes and stimulate matrix synthesis.
10448738 1999 In vitro regulation of expression of cartilage-derived morphogenetic proteins by growth hormone and insulinlike growth factor 1 in the bovine cricoid chondrocyte.
10022976 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.
9525338 1998 Cartilage-derived morphogenetic proteins and osteogenic protein-1 differentially regulate osteogenesis.
9218508 1997 Ectopic induction of tendon and ligament in rats by growth and differentiation factors 5, 6, and 7, members of the TGF-beta gene family.
9057810 1995 Cartilage morphogenesis: role of bone and cartilage morphogenetic proteins, homeobox genes and extracellular matrix.
8145850 1994 Limb alterations in brachypodism mice due to mutations in a new member of the TGF beta-superfamily.
7961761 1994 Cartilage-derived morphogenetic proteins. New members of the transforming growth factor-beta superfamily predominantly expressed in long bones during human embryonic development.
933127 1976 Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents.