ENSG00000147202


Homo sapiens

Features
Gene ID: ENSG00000147202
  
Biological name :DIAPH2
  
Synonyms : DIAPH2 / diaphanous related formin 2 / O60879
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q21.33
Gene start: 96684663
Gene end: 97604997
  
Corresponding Affymetrix probe sets: 205603_s_at (Human Genome U133 Plus 2.0 Array)   205726_at (Human Genome U133 Plus 2.0 Array)   217246_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000348082
Ensembl peptide - ENSP00000362152
Ensembl peptide - ENSP00000362145
Ensembl peptide - ENSP00000362140
Ensembl peptide - ENSP00000321348
NCBI entrez gene - 1730     See in Manteia.
OMIM - 300108
RefSeq - NM_007309
RefSeq - NM_006729
RefSeq Peptide - NP_006720
RefSeq Peptide - NP_009293
swissprot - O60879
swissprot - A6NML8
swissprot - K4DI95
swissprot - C9J6U3
Ensembl - ENSG00000147202
  
Related genetic diseases (OMIM): 300511 - ?Premature ovarian failure 2A, 300511
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 diaph2ENSDARG00000076060Danio rerio
 DIAPH2ENSGALG00000030791Gallus gallus
 2 ENSMUSG00000034480Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DIAPH3 / Q9NSV4 / diaphanous related formin 3ENSG0000013973457
DIAPH1 / O60610 / diaphanous related formin 1ENSG0000013150455
DAAM1 / Q9Y4D1 / dishevelled associated activator of morphogenesis 1ENSG0000010059226
DAAM2 / Q86T65 / dishevelled associated activator of morphogenesis 2ENSG0000014612225
INF2 / Q27J81 / inverted formin, FH2 and WH2 domain containingENSG0000020348522
FMNL2 / Q96PY5 / formin like 2ENSG0000015782721
FMNL1 / O95466 / formin like 1ENSG0000018492221
FMNL3 / Q8IVF7 / formin like 3ENSG0000016179120
FHDC1 / Q9C0D6 / FH2 domain containing 1ENSG0000013746012


Protein motifs (from Interpro)
Interpro ID Name
 IPR010465  DRF autoregulatory
 IPR010472  Formin, FH3 domain
 IPR010473  Formin, GTPase-binding domain
 IPR011989  Armadillo-like helical
 IPR011990  Tetratricopeptide-like helical domain superfamily
 IPR014767  Diaphanous autoregulatory (DAD) domain
 IPR014768  Rho GTPase-binding/formin homology 3 (GBD/FH3) domain
 IPR015425  Formin, FH2 domain
 IPR016024  Armadillo-type fold
 IPR027644  Protein diaphanous homologue 2


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007015 actin filament organization IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007292 female gamete generation IEA
 biological_processGO:0016043 cellular component organization IEA
 biological_processGO:0030036 actin cytoskeleton organization IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0048477 oogenesis IEA
 cellular_componentGO:0005730 nucleolus IDA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005769 early endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005102 signaling receptor binding TAS
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0017048 Rho GTPase binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000869 Secondary amenorrhea 
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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 HP:0008209 Premature ovarian failure 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000173156 RHOD / O00212 / ras homolog family member D  / complex / reaction
 ENSG00000147202 DIAPH2 / O60879 / diaphanous related formin 2  / complex
 ENSG00000070831 CDC42 / P60953 / cell division cycle 42  / complex / reaction
 ENSG00000197122 SRC / P12931 / SRC proto-oncogene, non-receptor tyrosine kinase  / complex / reaction






 

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