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Diap2
Gene Detail
 Symbol
Name
ID
Diap2
diaphanous homolog 2 (Drosophila)
MGI:1858500
Synonyms Dia3, E430022I22Rik
Feature Type protein coding gene
Genetic Map
Chromosome X
52.36 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
ChrX:129749742-130465834 bp, + strand
From VEGA annotation of GRCm38

  716093 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68551  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 zebrafish

Gene Tree: Diap2

Human
homologs
Human Homolog DIAPH2, diaphanous-related formin 2
NCBI Gene ID 1730
neXtProt AC  NX_O60879
Human Synonyms  DIA, DIA2, DRF2, POF, POF2
Human Chr (Location)  Xq21.33; chrX:96684663-97600598 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human DIAPH2
Alleles
and
phenotypes
All alleles(54) : Targeted(3) Gene trapped(51)
 
Male chimeras hemizygous for a gene trapped allele appear normal at E10.5. Chimeras hemizygous for another gene trapped allele exhibit hemorrhage, cardiac defects, and brain malformations from E11 onwards.
 
Phenotype Images(16)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process actin cytoskeleton organization, actin filament polymerization, ...
Function actin binding, Rho GTPase binding
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(20)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(21) cDNA(20) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000018669 (Evidence)
Ensembl Gene ModelENSMUSG00000034480 (Evidence)
Entrez Gene54004 (Evidence)
UniGene10763
DFCITC1586695, TC1590410, TC1599266, TC1623992
DoTSDT.101354026, DT.101722912, DT.102557474, DT.40146760, DT.94269028
NIA Mouse Gene IndexU020179
Consensus CDS ProjectCCDS41116.1, CCDS53180.1
International Mouse Knockout Project StatusDiap2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000018669 VEGA Gene Model | MGI Sequence Detail 716093 C57BL/6J ±  kb
transcript OTTMUST00000044926 VEGA | MGI Sequence Detail 3742 Not Applicable 
polypeptide OTTMUSP00000020189 VEGA | MGI Sequence Detail 1102 Not Applicable 

For the selected sequences
All sequences(60) RefSeq(7) UniProt(7)
Polymorphisms SNPs within 2kb(1858 from dbSNP Build 137)    SNPs within 2kb including multiple locations(1874)
Protein-related
information
ResourceIDDescription
InterPro IPR015425 Actin-binding FH2
InterPro IPR016024 Armadillo-type fold
InterPro IPR014767 Diaphanous autoregulatory
InterPro IPR010472 Diaphanous FH3
InterPro IPR010473 Diaphanous GTPase-binding
InterPro IPR010465 DRF autoregulatory
InterPro IPR014768 GTPase-binding/formin homology 3
Protein Ontology PR:000006476 protein diaphanous homolog 2
References (Earliest) J:47262 Bione S, et al., A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility. Am J Hum Genet. 1998 Mar;62(3):533-41
(Latest) J:205519 Watanabe S, et al., Loss of a Rho-regulated actin nucleator, mDia2, impairs cytokinesis during mouse fetal erythropoiesis. Cell Rep. 2013 Nov 27;5(4):926-32
All references(36)
Other
accession IDs
MGI:2444333

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory