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GDF6 (growth differentiation factor 6)

Identity

Other namesBMP-13
BMP13
CDMP2
KFM
KFS
KFS1
KFSL
LCA17
MCOP4
MCOPCB6
SCDO4
SGM1
HGNC (Hugo) GDF6
LocusID (NCBI) 392255
Atlas_Id 47057
Location 8q22.1  [Link to chromosome band 8q22]
Location_base_pair Starts at 97154558 and ends at 97173020 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
TSNARE1 (8q24.3) / GDF6 (8q22.1)TSNARE1 8q24.3 / GDF6 8q22.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GDF6   4221
Cards
Entrez_Gene (NCBI)GDF6  392255  growth differentiation factor 6
AliasesBMP-13; BMP13; CDMP2; KFM; 
KFS; KFS1; KFSL; LCA17; MCOP4; MCOPCB6; SCDO4; SGM1
GeneCards (Weizmann)GDF6
Ensembl hg19 (Hinxton)ENSG00000156466 [Gene_View]  chr8:97154558-97173020 [Contig_View]  GDF6 [Vega]
Ensembl hg38 (Hinxton)ENSG00000156466 [Gene_View]  chr8:97154558-97173020 [Contig_View]  GDF6 [Vega]
ICGC DataPortalENSG00000156466
TCGA cBioPortalGDF6
AceView (NCBI)GDF6
Genatlas (Paris)GDF6
WikiGenes392255
SOURCE (Princeton)GDF6
Genomic and cartography
GoldenPath hg19 (UCSC)GDF6  -     chr8:97154558-97173020 -  8q22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GDF6  -     8q22.1   [Description]    (hg38-Dec_2013)
EnsemblGDF6 - 8q22.1 [CytoView hg19]  GDF6 - 8q22.1 [CytoView hg38]
Mapping of homologs : NCBIGDF6 [Mapview hg19]  GDF6 [Mapview hg38]
OMIM118100   601147   613094   613703   615360   
Gene and transcription
Genbank (Entrez)AJ537424 BC043222 BC127947 BC127948 BC156445
RefSeq transcript (Entrez)NM_001001557
RefSeq genomic (Entrez)NC_000008 NC_018919 NG_008981 NT_008046 NW_004929340
Consensus coding sequences : CCDS (NCBI)GDF6
Cluster EST : UnigeneHs.492277 [ NCBI ]
CGAP (NCI)Hs.492277
Alternative Splicing GalleryENSG00000156466
Gene ExpressionGDF6 [ NCBI-GEO ]   GDF6 [ EBI - ARRAY_EXPRESS ]   GDF6 [ SEEK ]   GDF6 [ MEM ]
Gene Expression Viewer (FireBrowse)GDF6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)392255
GTEX Portal (Tissue expression)GDF6
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6KF10 (Uniprot)
NextProtQ6KF10  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6KF10
Splice isoforms : SwissVarQ6KF10 (Swissvar)
PhosPhoSitePlusQ6KF10
Domaine pattern : Prosite (Expaxy)TGF_BETA_1 (PS00250)    TGF_BETA_2 (PS51362)   
Domains : Interpro (EBI)Cystine-knot_cytokine    TGF-b_C    TGF-b_N    TGF-beta-rel    TGFb_CS   
Domain families : Pfam (Sanger)TGF_beta (PF00019)    TGFb_propeptide (PF00688)   
Domain families : Pfam (NCBI)pfam00019    pfam00688   
Domain families : Smart (EMBL)TGFB (SM00204)  
DMDM Disease mutations392255
Blocks (Seattle)GDF6
SuperfamilyQ6KF10
Human Protein AtlasENSG00000156466
Peptide AtlasQ6KF10
HPRD11002
IPIIPI00419815   IPI00816729   IPI00816550   
Protein Interaction databases
DIP (DOE-UCLA)Q6KF10
IntAct (EBI)Q6KF10
FunCoupENSG00000156466
BioGRIDGDF6
STRING (EMBL)GDF6
ZODIACGDF6
Ontologies - Pathways
QuickGOQ6KF10
Ontology : AmiGOcytokine activity  transforming growth factor beta receptor binding  extracellular space  apoptotic process  growth factor activity  positive regulation of pathway-restricted SMAD protein phosphorylation  BMP signaling pathway  positive regulation of chondrocyte differentiation  activin receptor signaling pathway  growth  protein homodimerization activity  regulation of apoptotic process  regulation of MAPK cascade  fat cell differentiation  positive regulation of neuron differentiation  positive regulation of transcription, DNA-templated  cell development  pathway-restricted SMAD protein phosphorylation  SMAD protein signal transduction  SMAD protein signal transduction  positive regulation of p38MAPK cascade  retinal cell apoptotic process  
Ontology : EGO-EBIcytokine activity  transforming growth factor beta receptor binding  extracellular space  apoptotic process  growth factor activity  positive regulation of pathway-restricted SMAD protein phosphorylation  BMP signaling pathway  positive regulation of chondrocyte differentiation  activin receptor signaling pathway  growth  protein homodimerization activity  regulation of apoptotic process  regulation of MAPK cascade  fat cell differentiation  positive regulation of neuron differentiation  positive regulation of transcription, DNA-templated  cell development  pathway-restricted SMAD protein phosphorylation  SMAD protein signal transduction  SMAD protein signal transduction  positive regulation of p38MAPK cascade  retinal cell apoptotic process  
Pathways : KEGGTGF-beta signaling pathway    Hippo signaling pathway   
NDEx NetworkGDF6
Atlas of Cancer Signalling NetworkGDF6
Wikipedia pathwaysGDF6
Orthology - Evolution
OrthoDB392255
GeneTree (enSembl)ENSG00000156466
Phylogenetic Trees/Animal Genes : TreeFamGDF6
Homologs : HomoloGeneGDF6
Homology/Alignments : Family Browser (UCSC)GDF6
Gene fusions - Rearrangements
Fusion: TCGATSNARE1 8q24.3 GDF6 8q22.1 BLCA
Polymorphisms : SNP, variants
NCBI Variation ViewerGDF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GDF6
dbVarGDF6
ClinVarGDF6
1000_GenomesGDF6 
Exome Variant ServerGDF6
ExAC (Exome Aggregation Consortium)GDF6 (select the gene name)
Genetic variants : HAPMAP392255
Genomic Variants (DGV)GDF6 [DGVbeta]
Mutations
ICGC Data PortalGDF6 
TCGA Data PortalGDF6 
Broad Tumor PortalGDF6
OASIS PortalGDF6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGDF6 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch GDF6
DgiDB (Drug Gene Interaction Database)GDF6
DoCM (Curated mutations)GDF6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GDF6 (select a term)
intoGenGDF6
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:97154558-97173020  ENSG00000156466
CONAN: Copy Number AnalysisGDF6 
Mutations and Diseases : HGMDGDF6
OMIM118100    601147    613094    613703    615360   
MedgenGDF6
Genetic Testing Registry GDF6
NextProtQ6KF10 [Medical]
TSGene392255
GENETestsGDF6
Huge Navigator GDF6 [HugePedia]
snp3D : Map Gene to Disease392255
BioCentury BCIQGDF6
ClinGenGDF6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD392255
Chemical/Pharm GKB GenePA28636
Clinical trialGDF6
Miscellaneous
canSAR (ICR)GDF6 (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGDF6
EVEXGDF6
GoPubMedGDF6
iHOPGDF6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 18:50:42 CEST 2016

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