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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
Location 8q22.1
Location_base_pair Starts at 97154558 and ends at 97173020 bp from pter ( according to hg19-Feb_2009)
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
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
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)AC_000140 NC_000008 NC_018919 NG_008981 NT_008046 NW_001839136 NW_004929340
Consensus coding sequences : CCDS (NCBI)GDF6
Cluster EST : UnigeneHs.492277 [ NCBI ]
CGAP (NCI)Hs.492277
Alternative Splicing : Fast-db (Paris)GSHG0029729
Alternative Splicing GalleryENSG00000156466
Gene ExpressionGDF6 [ NCBI-GEO ]     GDF6 [ SEEK ]   GDF6 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6KF10 (Uniprot)
NextProtQ6KF10  [Medical]
With graphics : InterProQ6KF10
Splice isoforms : SwissVarQ6KF10 (Swissvar)
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   
Related proteins : CluSTrQ6KF10
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)Q6KF10
Human Protein AtlasENSG00000156466
Peptide AtlasQ6KF10
HPRD11002
IPIIPI00419815   IPI00816729   IPI00816550   
Protein Interaction databases
DIP (DOE-UCLA)Q6KF10
IntAct (EBI)Q6KF10
FunCoupENSG00000156466
BioGRIDGDF6
IntegromeDBGDF6
STRING (EMBL)GDF6
Ontologies - Pathways
QuickGOQ6KF10
Ontology : AmiGOcytokine activity  extracellular space  apoptotic process  growth factor activity  positive regulation of pathway-restricted SMAD protein phosphorylation  BMP signaling pathway  activin receptor signaling pathway  growth  protein homodimerization activity  positive regulation of neuron differentiation  positive regulation of transcription, DNA-templated  pathway-restricted SMAD protein phosphorylation  retinal cell apoptotic process  
Ontology : EGO-EBIcytokine activity  extracellular space  apoptotic process  growth factor activity  positive regulation of pathway-restricted SMAD protein phosphorylation  BMP signaling pathway  activin receptor signaling pathway  growth  protein homodimerization activity  positive regulation of neuron differentiation  positive regulation of transcription, DNA-templated  pathway-restricted SMAD protein phosphorylation  retinal cell apoptotic process  
Pathways : KEGGTGF-beta signaling pathway    Hippo signaling pathway   
Protein Interaction DatabaseGDF6
DoCM (Curated mutations)GDF6
Wikipedia pathwaysGDF6
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGDF6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GDF6
dbVarGDF6
ClinVarGDF6
1000_GenomesGDF6 
Exome Variant ServerGDF6
SNP (GeneSNP Utah)GDF6
SNP : HGBaseGDF6
Genetic variants : HAPMAPGDF6
Genomic VariantsGDF6  GDF6 [DGVbeta]
Mutations
ICGC Data PortalENSG00000156466 
Somatic Mutations in Cancer : COSMICGDF6 
CONAN: Copy Number AnalysisGDF6 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)8:97154558-97173020
Mutations and Diseases : HGMDGDF6
OMIM118100    601147    613094    613703    615360   
MedgenGDF6
NextProtQ6KF10 [Medical]
GENETestsGDF6
Disease Genetic AssociationGDF6
Huge Navigator GDF6 [HugePedia]  GDF6 [HugeCancerGEM]
snp3D : Map Gene to Disease392255
DGIdb (Drug Gene Interaction db)GDF6
General knowledge
Homologs : HomoloGeneGDF6
Homology/Alignments : Family Browser (UCSC)GDF6
Phylogenetic Trees/Animal Genes : TreeFamGDF6
Chemical/Protein Interactions : CTD392255
Chemical/Pharm GKB GenePA28636
Clinical trialGDF6
Cancer Resource (Charite)ENSG00000156466
Other databases
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
CoreMineGDF6
GoPubMedGDF6
iHOPGDF6
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:45:08 CET 2014

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