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DIAPH2 (diaphanous related formin 2)

Identity

Alias_namesdiaphanous (Drosophila, homolog) 2
diaphanous homolog 2 (Drosophila)
Alias_symbol (synonym)POF
DIA
POF2
DIA2
Other aliasDRF2
POF2A
HGNC (Hugo) DIAPH2
LocusID (NCBI) 1730
Atlas_Id 40307
Location Xq21.33  [Link to chromosome band Xq21]
Location_base_pair Starts at 96684663 and ends at 97469838 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DIAPH2 (Xq21.33) / DIAPH2 (Xq21.33)DIAPH2 (Xq21.33) / F8 (Xq28)DIAPH2 (Xq21.33) / HNRNPC (14q11.2)
ETHE1 (19q13.31) / DIAPH2 (Xq21.33)GABRA3 (Xq28) / DIAPH2 (Xq21.33)DIAPH2 Xq21.33 / F8 Xq28
GABRA3 Xq28 / DIAPH2 Xq21.33

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(X;X)(q21;q28) DIAPH2/F8
t(X;X)(q21;q28) GABRA3/DIAPH2

External links

Nomenclature
HGNC (Hugo)DIAPH2   2877
Cards
Entrez_Gene (NCBI)DIAPH2  1730  diaphanous related formin 2
AliasesDIA; DIA2; DRF2; POF; 
POF2; POF2A
GeneCards (Weizmann)DIAPH2
Ensembl hg19 (Hinxton)ENSG00000147202 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147202 [Gene_View]  ENSG00000147202 [Sequence]  chrX:96684663-97469838 [Contig_View]  DIAPH2 [Vega]
ICGC DataPortalENSG00000147202
TCGA cBioPortalDIAPH2
AceView (NCBI)DIAPH2
Genatlas (Paris)DIAPH2
WikiGenes1730
SOURCE (Princeton)DIAPH2
Genetics Home Reference (NIH)DIAPH2
Genomic and cartography
GoldenPath hg38 (UCSC)DIAPH2  -     chrX:96684663-97469838 +  Xq21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DIAPH2  -     Xq21.33   [Description]    (hg19-Feb_2009)
GoldenPathDIAPH2 - Xq21.33 [CytoView hg19]  DIAPH2 - Xq21.33 [CytoView hg38]
ImmunoBaseENSG00000147202
Mapping of homologs : NCBIDIAPH2 [Mapview hg19]  DIAPH2 [Mapview hg38]
OMIM300108   300511   
Gene and transcription
Genbank (Entrez)AK002029 AK291272 AW276516 BC117414 BC143838
RefSeq transcript (Entrez)NM_006729 NM_007309
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DIAPH2
Cluster EST : UnigeneHs.226483 [ NCBI ]
CGAP (NCI)Hs.226483
Alternative Splicing GalleryENSG00000147202
Gene ExpressionDIAPH2 [ NCBI-GEO ]   DIAPH2 [ EBI - ARRAY_EXPRESS ]   DIAPH2 [ SEEK ]   DIAPH2 [ MEM ]
Gene Expression Viewer (FireBrowse)DIAPH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1730
GTEX Portal (Tissue expression)DIAPH2
Human Protein AtlasENSG00000147202-DIAPH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60879   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60879  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60879
Splice isoforms : SwissVarO60879
PhosPhoSitePlusO60879
Domaine pattern : Prosite (Expaxy)DAD (PS51231)    FH2 (PS51444)    GBD_FH3 (PS51232)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    DAD_dom    DIAPH2    Drf_DAD    FH2_Formin    FH3_dom    GBD/FH3_dom    GTPase-bd   
Domain families : Pfam (Sanger)Drf_DAD (PF06345)    Drf_FH3 (PF06367)    Drf_GBD (PF06371)    FH2 (PF02181)   
Domain families : Pfam (NCBI)pfam06345    pfam06367    pfam06371    pfam02181   
Domain families : Smart (EMBL)Drf_FH3 (SM01139)  Drf_GBD (SM01140)  FH2 (SM00498)  
Conserved Domain (NCBI)DIAPH2
DMDM Disease mutations1730
Blocks (Seattle)DIAPH2
SuperfamilyO60879
Human Protein Atlas [tissue]ENSG00000147202-DIAPH2 [tissue]
Peptide AtlasO60879
HPRD02117
IPIIPI01015143   IPI00514075   IPI00844086   IPI00514914   IPI00844377   IPI00747951   IPI00877079   
Protein Interaction databases
DIP (DOE-UCLA)O60879
IntAct (EBI)O60879
FunCoupENSG00000147202
BioGRIDDIAPH2
STRING (EMBL)DIAPH2
ZODIACDIAPH2
Ontologies - Pathways
QuickGOO60879
Ontology : AmiGOactin binding  signaling receptor binding  nucleolus  early endosome  endoplasmic reticulum  cytosol  actin filament organization  multicellular organism development  female gamete generation  Rho GTPase binding  intracellular membrane-bounded organelle  oogenesis  
Ontology : EGO-EBIactin binding  signaling receptor binding  nucleolus  early endosome  endoplasmic reticulum  cytosol  actin filament organization  multicellular organism development  female gamete generation  Rho GTPase binding  intracellular membrane-bounded organelle  oogenesis  
Pathways : KEGGRegulation of actin cytoskeleton   
NDEx NetworkDIAPH2
Atlas of Cancer Signalling NetworkDIAPH2
Wikipedia pathwaysDIAPH2
Orthology - Evolution
OrthoDB1730
GeneTree (enSembl)ENSG00000147202
Phylogenetic Trees/Animal Genes : TreeFamDIAPH2
HOGENOMO60879
Homologs : HomoloGeneDIAPH2
Homology/Alignments : Family Browser (UCSC)DIAPH2
Gene fusions - Rearrangements
Fusion : MitelmanDIAPH2/F8 [Xq21.33/Xq28]  
Fusion : MitelmanGABRA3/DIAPH2 [Xq28/Xq21.33]  [t(X;X)(q21;q28)]  
Fusion PortalDIAPH2 Xq21.33 F8 Xq28 LGG
Fusion PortalGABRA3 Xq28 DIAPH2 Xq21.33 KIRC
Fusion : QuiverDIAPH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDIAPH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DIAPH2
dbVarDIAPH2
ClinVarDIAPH2
1000_GenomesDIAPH2 
Exome Variant ServerDIAPH2
ExAC (Exome Aggregation Consortium)ENSG00000147202
GNOMAD BrowserENSG00000147202
Varsome BrowserDIAPH2
Genetic variants : HAPMAP1730
Genomic Variants (DGV)DIAPH2 [DGVbeta]
DECIPHERDIAPH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDIAPH2 
Mutations
ICGC Data PortalDIAPH2 
TCGA Data PortalDIAPH2 
Broad Tumor PortalDIAPH2
OASIS PortalDIAPH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDIAPH2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DDIAPH2
Mutations and Diseases : HGMDDIAPH2
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)X-chromosome gene database
BioMutasearch DIAPH2
DgiDB (Drug Gene Interaction Database)DIAPH2
DoCM (Curated mutations)DIAPH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DIAPH2 (select a term)
intoGenDIAPH2
Cancer3DDIAPH2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300108    300511   
Orphanet
DisGeNETDIAPH2
MedgenDIAPH2
Genetic Testing Registry DIAPH2
NextProtO60879 [Medical]
TSGene1730
GENETestsDIAPH2
Target ValidationDIAPH2
Huge Navigator DIAPH2 [HugePedia]
snp3D : Map Gene to Disease1730
BioCentury BCIQDIAPH2
ClinGenDIAPH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1730
Chemical/Pharm GKB GenePA27334
Clinical trialDIAPH2
Miscellaneous
canSAR (ICR)DIAPH2 (select the gene name)
DataMed IndexDIAPH2
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDIAPH2
EVEXDIAPH2
GoPubMedDIAPH2
iHOPDIAPH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Nov 13 17:40:24 CET 2019
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