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GDF5 (growth differentiation factor 5)

Identity

Alias_symbol (synonym)CDMP1
BMP14
Other aliasBDA1C
BMP-14
LAP-4
LAP4
OS5
SYM1B
SYNS2
HGNC (Hugo) GDF5
LocusID (NCBI) 8200
Atlas_Id 40702
Location 20q11.22  [Link to chromosome band 20q11]
Location_base_pair Starts at 35433349 and ends at 35438190 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
UQCC1 (20q11.22) / GDF5 (20q11.22)UQCC GDF5 20q11.22

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)GDF5   4220
Cards
Entrez_Gene (NCBI)GDF5  8200  growth differentiation factor 5
AliasesBDA1C; BMP-14; BMP14; CDMP1; 
LAP-4; LAP4; OS5; SYM1B; SYNS2
GeneCards (Weizmann)GDF5
Ensembl hg19 (Hinxton)ENSG00000125965 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125965 [Gene_View]  chr20:35433349-35438190 [Contig_View]  GDF5 [Vega]
ICGC DataPortalENSG00000125965
TCGA cBioPortalGDF5
AceView (NCBI)GDF5
Genatlas (Paris)GDF5
WikiGenes8200
SOURCE (Princeton)GDF5
Genetics Home Reference (NIH)GDF5
Genomic and cartography
GoldenPath hg38 (UCSC)GDF5  -     chr20:35433349-35438190 -  20q11.22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GDF5  -     20q11.22   [Description]    (hg19-Feb_2009)
EnsemblGDF5 - 20q11.22 [CytoView hg19]  GDF5 - 20q11.22 [CytoView hg38]
Mapping of homologs : NCBIGDF5 [Mapview hg19]  GDF5 [Mapview hg38]
OMIM112600   113100   200700   201250   228900   601146   610017   612400   615072   615298   
Gene and transcription
Genbank (Entrez)AB593125 BC032495 BC111566 BC111859 BU625224
RefSeq transcript (Entrez)NM_000557 NM_001319138
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GDF5
Cluster EST : UnigeneHs.1573 [ NCBI ]
CGAP (NCI)Hs.1573
Alternative Splicing GalleryENSG00000125965
Gene ExpressionGDF5 [ NCBI-GEO ]   GDF5 [ EBI - ARRAY_EXPRESS ]   GDF5 [ SEEK ]   GDF5 [ MEM ]
Gene Expression Viewer (FireBrowse)GDF5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8200
GTEX Portal (Tissue expression)GDF5
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43026   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43026  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43026
Splice isoforms : SwissVarP43026
PhosPhoSitePlusP43026
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)GDF5
DMDM Disease mutations8200
Blocks (Seattle)GDF5
PDB (SRS)1WAQ    2BHK    3EVS    3QB4    5HK5   
PDB (PDBSum)1WAQ    2BHK    3EVS    3QB4    5HK5   
PDB (IMB)1WAQ    2BHK    3EVS    3QB4    5HK5   
PDB (RSDB)1WAQ    2BHK    3EVS    3QB4    5HK5   
Structural Biology KnowledgeBase1WAQ    2BHK    3EVS    3QB4    5HK5   
SCOP (Structural Classification of Proteins)1WAQ    2BHK    3EVS    3QB4    5HK5   
CATH (Classification of proteins structures)1WAQ    2BHK    3EVS    3QB4    5HK5   
SuperfamilyP43026
Human Protein AtlasENSG00000125965
Peptide AtlasP43026
HPRD03092
IPIIPI00015522   
Protein Interaction databases
DIP (DOE-UCLA)P43026
IntAct (EBI)P43026
FunCoupENSG00000125965
BioGRIDGDF5
STRING (EMBL)GDF5
ZODIACGDF5
Ontologies - Pathways
QuickGOP43026
Ontology : AmiGOchondrocyte differentiation  cytokine activity  transforming growth factor beta receptor binding  protein binding  extracellular region  extracellular space  intracellular  plasma membrane  transforming growth factor beta receptor signaling pathway  SMAD protein import into nucleus  cell-cell signaling  growth factor activity  response to mechanical stimulus  positive regulation of pathway-restricted SMAD protein phosphorylation  embryonic limb morphogenesis  positive regulation of BMP signaling pathway  negative regulation of chondrocyte differentiation  positive regulation of chondrocyte differentiation  forelimb morphogenesis  hindlimb morphogenesis  BMP binding  regulation of multicellular organism growth  identical protein binding  regulation of apoptotic process  regulation of MAPK cascade  negative regulation of neuron apoptotic process  ossification involved in bone remodeling  positive regulation of neuron differentiation  cell development  negative regulation of epithelial cell proliferation  SMAD protein signal transduction  chondroblast differentiation  negative regulation of mesenchymal cell apoptotic process  
Ontology : EGO-EBIchondrocyte differentiation  cytokine activity  transforming growth factor beta receptor binding  protein binding  extracellular region  extracellular space  intracellular  plasma membrane  transforming growth factor beta receptor signaling pathway  SMAD protein import into nucleus  cell-cell signaling  growth factor activity  response to mechanical stimulus  positive regulation of pathway-restricted SMAD protein phosphorylation  embryonic limb morphogenesis  positive regulation of BMP signaling pathway  negative regulation of chondrocyte differentiation  positive regulation of chondrocyte differentiation  forelimb morphogenesis  hindlimb morphogenesis  BMP binding  regulation of multicellular organism growth  identical protein binding  regulation of apoptotic process  regulation of MAPK cascade  negative regulation of neuron apoptotic process  ossification involved in bone remodeling  positive regulation of neuron differentiation  cell development  negative regulation of epithelial cell proliferation  SMAD protein signal transduction  chondroblast differentiation  negative regulation of mesenchymal cell apoptotic process  
Pathways : KEGGCytokine-cytokine receptor interaction    TGF-beta signaling pathway    Hippo signaling pathway   
NDEx NetworkGDF5
Atlas of Cancer Signalling NetworkGDF5
Wikipedia pathwaysGDF5
Orthology - Evolution
OrthoDB8200
GeneTree (enSembl)ENSG00000125965
Phylogenetic Trees/Animal Genes : TreeFamGDF5
HOVERGENP43026
HOGENOMP43026
Homologs : HomoloGeneGDF5
Homology/Alignments : Family Browser (UCSC)GDF5
Gene fusions - Rearrangements
Fusion : MitelmanUQCC1/GDF5 [20q11.22/20q11.22]  [t(20;20)(q11;q11)]  
Fusion: TCGAUQCC GDF5 20q11.22 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGDF5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GDF5
dbVarGDF5
ClinVarGDF5
1000_GenomesGDF5 
Exome Variant ServerGDF5
ExAC (Exome Aggregation Consortium)GDF5 (select the gene name)
Genetic variants : HAPMAP8200
Genomic Variants (DGV)GDF5 [DGVbeta]
DECIPHERGDF5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGDF5 
Mutations
ICGC Data PortalGDF5 
TCGA Data PortalGDF5 
Broad Tumor PortalGDF5
OASIS PortalGDF5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGDF5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGDF5
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)Mendelian genes
BioMutasearch GDF5
DgiDB (Drug Gene Interaction Database)GDF5
DoCM (Curated mutations)GDF5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GDF5 (select a term)
intoGenGDF5
Cancer3DGDF5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM112600    113100    200700    201250    228900    601146    610017    612400    615072    615298   
Orphanet1287    2010    2413    2896    2907    10823    12311    12308    12318   
MedgenGDF5
Genetic Testing Registry GDF5
NextProtP43026 [Medical]
TSGene8200
GENETestsGDF5
Target ValidationGDF5
Huge Navigator GDF5 [HugePedia]
snp3D : Map Gene to Disease8200
BioCentury BCIQGDF5
ClinGenGDF5 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8200
Chemical/Pharm GKB GenePA28635
Clinical trialGDF5
Miscellaneous
canSAR (ICR)GDF5 (select the gene name)
Probes
Litterature
PubMed129 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGDF5
EVEXGDF5
GoPubMedGDF5
iHOPGDF5
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 25 19:09:38 CEST 2017

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