GDF6 (growth differentiation factor 6)

2007-04-01  

Identity

HGNC
LOCATION
8q22.1
LOCUSID
ALIAS
BMP-13,BMP13,CDMP2,KFM,KFS,KFS1,KFSL,SGM1,SYNS4
FUSION GENES

Other Information

Locus ID:

NCBI: 392255
MIM: 601147
HGNC: 4221
Ensembl: ENSG00000156466

Variants:

dbSNP: 392255
ClinVar: 392255
TCGA: ENSG00000156466
COSMIC: GDF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000156466ENST00000287020Q6KF10
ENSG00000156466ENST00000287020A0A0S2A5D6
ENSG00000156466ENST00000620978A0PK22
ENSG00000156466ENST00000621429A0A087X0X2

Expression (GTEx)

0
1
2
3

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Hippo signaling pathwayKEGGhsa04390
Hippo signaling pathwayKEGGko04390

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
203346102010BMP12 and BMP13 gene transfer induce ligamentogenic differentiation in mesenchymal progenitor and anterior cruciate ligament cells.29
220490842012High temperature requirement factor A1 (HTRA1) gene regulates angiogenesis through transforming growth factor-β family member growth differentiation factor 6.29
204949112010Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.28
217027182011Divergent activities of osteogenic BMP2, and tenogenic BMP12 and BMP13 independent of receptor binding affinities.15
200579062009Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.11
187166102009Genomic screening identifies novel linkages and provides further evidence for a role of MYH9 in nonsyndromic cleft lip and palate.10
244428802015Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.8
266437322016A 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.4
292846062018Growth Differentiation Factor 6 Promotes Vascular Stability by Restraining Vascular Endothelial Growth Factor Signaling.4

Citation

Dessen P

GDF6 (growth differentiation factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47057/gdf6