ENSMUSG00000034480


Mus musculus

Features
Gene ID: ENSMUSG00000034480
  
Biological name :Diaph2
  
Synonyms : 2 / Diaph2 / O70566
  
Possible biological names infered from orthology : diaphanous related formin 2 / O60879
  
Species: Mus musculus
  
Chr. number: X
Strand: 1
Band: E3
Gene start: 129749742
Gene end: 130465834
  
Corresponding Affymetrix probe sets: 10601616 (MoGene1.0st)   1427564_at (Mouse Genome 430 2.0 Array)   1442003_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000039334
Ensembl peptide - ENSMUSP00000108946
Ensembl peptide - ENSMUSP00000131879
NCBI entrez gene - 54004     See in Manteia.
MGI - MGI:1858500
RefSeq - XM_006528582
RefSeq - NM_172493
RefSeq - XM_006528581
RefSeq Peptide - NP_766081
swissprot - O70566
swissprot - Q6W4W7
swissprot - E9Q4U7
Ensembl - ENSMUSG00000034480
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 diaph2ENSDARG00000076060Danio rerio
 DIAPH2ENSGALG00000030791Gallus gallus
 DIAPH2ENSG00000147202Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
3 / Diaph3 / Q9Z207 / Q9NSV4* / diaphanous related formin 3*ENSMUSG0000002202154
1 / Diaph1 / O08808 / O60610* / diaphanous related formin 1*ENSMUSG0000002445653
Daam1 / Q8BPM0 / Disheveled-associated activator of morphosis 1 / Q9Y4D1* / dishevelled associated activator of morphogenesis 1*ENSMUSG0000003457425
Daam2 / Q80U19 / Disheveled-associated activator of morphosis 2 / Q86T65* / dishevelled associated activator of morphogenesis 2*ENSMUSG0000004026024
Inf2 / inverted formin, FH2 and WH2 domain containing / Q27J81*ENSMUSG0000003767922
Fmnl2 / A2APV2 / Formin-like protein 2 / Q96PY5* / formin like 2*ENSMUSG0000003605321
Fmnl1 / Q9JL26 / Formin-like protein 1 / O95466* / formin like 1*ENSMUSG0000005580520
Fmnl3 / Q6ZPF4 / Formin-like protein 3 / Q8IVF7* / formin like 3*ENSMUSG0000002300820
Fhdc1 / Q3ULZ2 / FH2 domain-containing protein 1 / Q9C0D6* / FH2 domain containing 1*ENSMUSG0000004184213


Protein motifs (from Interpro)
Interpro ID Name
 IPR010465  DRF autoregulatory
 IPR010472  Formin, FH3 domain
 IPR010473  Formin, GTPase-binding domain
 IPR011989  Armadillo-like helical
 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:0030041 actin filament polymerization IDA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0048477 oogenesis IEA
 cellular_componentGO:0005730 nucleolus IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0017048 Rho GTPase binding IEA


Pathways (from Reactome)
Pathway description
RHO GTPases Activate Formins
Mitotic Prometaphase


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000266 abnormal cardiac morphology "anomalies in the hollow, muscular organ that maintains the circulation of the blood" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Runx1tm1Yg/Runx1+,Tg(Runx1-GFP)#Itan/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0000787 abnormal telencephalon morphology "any malformation or absence of the paired anteriolateral division of the prosencephalon plus the lamina terminalis from which the olfactory lobes, cerebral cortex, and subcortical nuclei are derived " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph2tm1.2Sna

Allelic Composition: Diaph1tm1.1Sna/Diaph1tm1.1Sna,Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph1tm1.1Sna Diahp2tm1.2Sna

 MP:0000788 abnormal cerebral cortex morphology "malformed gray cellular mantle covering the surface of the brain" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph2tm1.2Sna

Allelic Composition: Diaph1tm1.1Sna/Diaph1tm1.1Sna,Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph1tm1.1Sna Diahp2tm1.2Sna

 MP:0000819 abnormal olfactory bulb morphology "malformation or absence of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, Principles of Neural Science:ISBN 0-8385-8034-3, J:16461]
Show

Allelic Composition: Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph2tm1.2Sna

Allelic Composition: Diaph1tm1.1Sna/Diaph1tm1.1Sna,Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph1tm1.1Sna Diahp2tm1.2Sna

 MP:0001914 hemorrhage "loss of blood from the vascular compartment to the exterior or into nonvascular body space as a result of rupture or severance of the blood vessels" [Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Runx1tm1Yg/Runx1+,Tg(Runx1-GFP)#Itan/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0002152 abnormal brain morphology "anomalous structure of or abnormal development of the brain, one of the two components of the central nervous system and the center of thought and emotion; controls coordination, bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, http://cancerweb.ncl.ac.uk]
Show

Allelic Composition: Runx1tm1Yg/Runx1+,Tg(Runx1-GFP)#Itan/0
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6 * CBA

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mov10l1tm1.2Jw/Mov10l1tm1.2Jw
Genetic Background: involves: 129S4/SvJae * C57BL/6 * FVB/N

Allelic Composition: Diaph2tm1.2Sna/Diaph2tm1.2Sna
Genetic Background: B6N.Cg-Diaph2tm1.2Sna

Allelic Composition: Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph2tm1.2Sna

 MP:0002741 small olfactory bulb "reduced size of the forebrain region that coordinates neuronal signaling involved in the perception of smell; it receives input from the sensory neurons and outputs to the olfactory cortex" [J:79871]
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Allelic Composition: Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph2tm1.2Sna

Allelic Composition: Diaph1tm1.1Sna/Diaph1tm1.1Sna,Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph1tm1.1Sna Diahp2tm1.2Sna

 MP:0006009 abnormal neuronal migration "defective or impaired movement of immature neurons from germinal zones to specific positions where they will reside as they mature" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph2tm1.2Sna

Allelic Composition: Diaph1tm1.1Sna/Diaph1tm1.1Sna,Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph1tm1.1Sna Diahp2tm1.2Sna

 MP:0009949 abnormal olfactory bulb granule cell layer morphology 
Show

Allelic Composition: Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph2tm1.2Sna

Allelic Composition: Diaph1tm1.1Sna/Diaph1tm1.1Sna,Diaph2tm1.2Sna/Y
Genetic Background: B6N.Cg-Diaph1tm1.1Sna Diahp2tm1.2Sna

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000027646 Src / P05480 / Neuronal proto-onco tyrosine-protein kinase Src / P12931* / SRC proto-oncogene, non-receptor tyrosine kinase*  / reaction / complex
 ENSMUSG00000034480 2 / Diaph2 / O70566 / O60879* / diaphanous related formin 2*  / complex
 ENSMUSG00000041845 Rhod / P97348 / ras homolog family member D / O00212*  / reaction / complex






 

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