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GDF2 (growth differentiation factor 2)

Identity

Alias_symbol (synonym)BMP-9
BMP9
Other aliasHHT5
HGNC (Hugo) GDF2
LocusID (NCBI) 2658
Atlas_Id 46771
Location 10q11.22  [Link to chromosome band 10q11]
Location_base_pair Starts at 47322490 and ends at 47327588 bp from pter ( according to hg38-Dec_2013)

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)GDF2   4217
Cards
Entrez_Gene (NCBI)GDF2  2658  growth differentiation factor 2
AliasesBMP-9; BMP9; HHT5
GeneCards (Weizmann)GDF2
Ensembl hg19 (Hinxton)ENSG00000263761 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000263761 [Gene_View]  chr10:47322490-47327588 [Contig_View]  GDF2 [Vega]
ICGC DataPortalENSG00000263761
TCGA cBioPortalGDF2
AceView (NCBI)GDF2
Genatlas (Paris)GDF2
WikiGenes2658
SOURCE (Princeton)GDF2
Genetics Home Reference (NIH)GDF2
Genomic and cartography
GoldenPath hg38 (UCSC)GDF2  -     chr10:47322490-47327588 +  10q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GDF2  -     10q11.22   [Description]    (hg19-Feb_2009)
EnsemblGDF2 - 10q11.22 [CytoView hg19]  GDF2 - 10q11.22 [CytoView hg38]
Mapping of homologs : NCBIGDF2 [Mapview hg19]  GDF2 [Mapview hg38]
OMIM605120   615506   
Gene and transcription
Genbank (Entrez)AF156891 AF188285 AK314956 BC069643 BC074921
RefSeq transcript (Entrez)NM_016204
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GDF2
Cluster EST : UnigeneHs.279463 [ NCBI ]
CGAP (NCI)Hs.279463
Alternative Splicing GalleryENSG00000263761
Gene ExpressionGDF2 [ NCBI-GEO ]   GDF2 [ EBI - ARRAY_EXPRESS ]   GDF2 [ SEEK ]   GDF2 [ MEM ]
Gene Expression Viewer (FireBrowse)GDF2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2658
GTEX Portal (Tissue expression)GDF2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UK05   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UK05  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UK05
Splice isoforms : SwissVarQ9UK05
PhosPhoSitePlusQ9UK05
Domaine pattern : Prosite (Expaxy)TGF_BETA_1 (PS00250)    TGF_BETA_2 (PS51362)   
Domains : Interpro (EBI)Cystine-knot_cytokine    TGF-b_C    TGF-b_propeptide    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)  
Conserved Domain (NCBI)GDF2
DMDM Disease mutations2658
Blocks (Seattle)GDF2
PDB (SRS)1ZKZ    4FAO    4MPL    4YCG    4YCI   
PDB (PDBSum)1ZKZ    4FAO    4MPL    4YCG    4YCI   
PDB (IMB)1ZKZ    4FAO    4MPL    4YCG    4YCI   
PDB (RSDB)1ZKZ    4FAO    4MPL    4YCG    4YCI   
Structural Biology KnowledgeBase1ZKZ    4FAO    4MPL    4YCG    4YCI   
SCOP (Structural Classification of Proteins)1ZKZ    4FAO    4MPL    4YCG    4YCI   
CATH (Classification of proteins structures)1ZKZ    4FAO    4MPL    4YCG    4YCI   
SuperfamilyQ9UK05
Human Protein AtlasENSG00000263761
Peptide AtlasQ9UK05
HPRD05492
IPIIPI00007015   
Protein Interaction databases
DIP (DOE-UCLA)Q9UK05
IntAct (EBI)Q9UK05
FunCoupENSG00000263761
BioGRIDGDF2
STRING (EMBL)GDF2
ZODIACGDF2
Ontologies - Pathways
QuickGOQ9UK05
Ontology : AmiGOossification  angiogenesis  branching involved in blood vessel morphogenesis  vasculogenesis  osteoblast differentiation  negative regulation of endothelial cell proliferation  positive regulation of endothelial cell proliferation  cytokine activity  transforming growth factor beta receptor binding  protein binding  extracellular space  cell  cellular iron ion homeostasis  growth factor activity  negative regulation of DNA replication  negative regulation of endothelial cell migration  positive regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of angiogenesis  negative regulation of cell growth  BMP signaling pathway  positive regulation of BMP signaling pathway  positive regulation of interleukin-8 production  activin receptor signaling pathway  regulation of apoptotic process  regulation of MAPK cascade  negative regulation of blood vessel endothelial cell migration  positive regulation of endothelial cell differentiation  positive regulation of osteoblast differentiation  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  cell development  blood vessel morphogenesis  cartilage development  pathway-restricted SMAD protein phosphorylation  SMAD protein signal transduction  positive regulation of cartilage development  extracellular exosome  cellular response to BMP stimulus  negative regulation of DNA biosynthetic process  
Ontology : EGO-EBIossification  angiogenesis  branching involved in blood vessel morphogenesis  vasculogenesis  osteoblast differentiation  negative regulation of endothelial cell proliferation  positive regulation of endothelial cell proliferation  cytokine activity  transforming growth factor beta receptor binding  protein binding  extracellular space  cell  cellular iron ion homeostasis  growth factor activity  negative regulation of DNA replication  negative regulation of endothelial cell migration  positive regulation of pathway-restricted SMAD protein phosphorylation  negative regulation of angiogenesis  negative regulation of cell growth  BMP signaling pathway  positive regulation of BMP signaling pathway  positive regulation of interleukin-8 production  activin receptor signaling pathway  regulation of apoptotic process  regulation of MAPK cascade  negative regulation of blood vessel endothelial cell migration  positive regulation of endothelial cell differentiation  positive regulation of osteoblast differentiation  positive regulation of angiogenesis  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  cell development  blood vessel morphogenesis  cartilage development  pathway-restricted SMAD protein phosphorylation  SMAD protein signal transduction  positive regulation of cartilage development  extracellular exosome  cellular response to BMP stimulus  negative regulation of DNA biosynthetic process  
NDEx NetworkGDF2
Atlas of Cancer Signalling NetworkGDF2
Wikipedia pathwaysGDF2
Orthology - Evolution
OrthoDB2658
GeneTree (enSembl)ENSG00000263761
Phylogenetic Trees/Animal Genes : TreeFamGDF2
HOVERGENQ9UK05
HOGENOMQ9UK05
Homologs : HomoloGeneGDF2
Homology/Alignments : Family Browser (UCSC)GDF2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGDF2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GDF2
dbVarGDF2
ClinVarGDF2
1000_GenomesGDF2 
Exome Variant ServerGDF2
ExAC (Exome Aggregation Consortium)GDF2 (select the gene name)
Genetic variants : HAPMAP2658
Genomic Variants (DGV)GDF2 [DGVbeta]
DECIPHERGDF2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGDF2 
Mutations
ICGC Data PortalGDF2 
TCGA Data PortalGDF2 
Broad Tumor PortalGDF2
OASIS PortalGDF2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDGDF2
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
BioMutasearch GDF2
DgiDB (Drug Gene Interaction Database)GDF2
DoCM (Curated mutations)GDF2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GDF2 (select a term)
intoGenGDF2
Cancer3DGDF2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605120    615506   
Orphanet236   
MedgenGDF2
Genetic Testing Registry GDF2
NextProtQ9UK05 [Medical]
TSGene2658
GENETestsGDF2
Target ValidationGDF2
Huge Navigator GDF2 [HugePedia]
snp3D : Map Gene to Disease2658
BioCentury BCIQGDF2
ClinGenGDF2 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2658
Chemical/Pharm GKB GenePA28632
Clinical trialGDF2
Miscellaneous
canSAR (ICR)GDF2 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGDF2
EVEXGDF2
GoPubMedGDF2
iHOPGDF2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:35:03 CEST 2017

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