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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:138404  Vertebrate Homology Class
1 mouse; 1 rat

HCOP human homology predictions: DIAPH2
Gene Tree: Diap2

Human
homologs
DIAPH2, diaphanous-related formin 2
Orthology source: HGNC

IDs:
NCBI Gene ID: 1730
neXtProt AC: NX_O60879

Human Synonyms: DIA, DIA2, DRF2, POF, POF2

Human Chr (Location): Xq21.33; chrX:96684663-97600598 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human DIAPH2

Mutations,
alleles, and
phenotypes
All mutations/alleles(56) : Gene trapped(51) Targeted(5)
Incidental mutations (data from APF )
 
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)
Interactions
Diap2 interacts with 487 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process actin cytoskeleton organization, actin filament organization, ...
Function actin binding, Rho GTPase binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
cDNA source data(20)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: ZFIN diaph2    NEW 
Molecular
reagents
All nucleic(21) cDNA(20) Other(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000018669 (Evidence)
Ensembl Gene Model ENSMUSG00000034480 (Evidence)
Entrez Gene 54004 (Evidence)
UniGene 10763
DFCI TC1586695, TC1590410, TC1599266, TC1623992
DoTS DT.101354026, DT.101722912, DT.102557474, DT.40146760, DT.94269028
NIA Mouse Gene Index U020179
Consensus CDS Project CCDS41116.1, CCDS53180.1
International Mouse Phenotyping Consortium Status Diap2
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 IPR016024 Armadillo-type fold
InterPro IPR014767 Diaphanous autoregulatory (DAD) domain
InterPro IPR010465 DRF autoregulatory
InterPro IPR015425 Formin, FH2 domain
InterPro IPR010472 Formin, FH3 domain
InterPro IPR010473 Formin, GTPase-binding domain
InterPro IPR027644 Protein diaphanous homologue 2
InterPro IPR014768 Rho GTPase-binding/formin homology 3 (GBD/FH3) domain
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:214020 Toyoda Y, et al., EphA4-dependent axon retraction and midline localization of Ephrin-B3 are disrupted in the spinal cord of mice lacking mDia1 and mDia3 in combination. Genes Cells. 2013 Oct;18(10):873-85
All references(38)
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
08/25/2015
MGI 6.0
The Jackson Laboratory