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Diap3
Gene Detail
Symbol

Name
ID
Diap3
diaphanous homolog 3 (Drosophila)
MGI:1927222
Synonyms
4930417P13Rik, Drf3, mDia2, p134MDia2
Feature Type
protein coding gene
Genetic Map
Chromosome 14
43.95 cM, cytoband D3
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr14:86655367-87141224 bp, - strand
From Ensembl annotation of GRCm38

  485858 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:84829  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

HCOP human homology predictions: DIAPH3
Gene Tree: Diap3

Human
homologs
DIAPH3, diaphanous-related formin 3
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 81624
neXtProt AC: NX_Q9NSV4

Human Synonyms: AN, AUNA1, DIA2, diap3, DRF3, mDia2, NSDAN

Human Chr (Location): 13q21.2; chr13:59665583-60163985 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human DIAPH3

Mutations,
alleles, and
phenotypes
All mutations/alleles(32) : Gene trapped(23) Targeted(7) Transgenic(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for disruption of this gene display embryonic mortality and abnormal cytokinesis of RBC.
 
Human Diseases Modeled in Mice Using Diap3 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Diap3 interacts with 260 markers (Mir9-1, Mir9-2, Mir9-3, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process actin cytoskeleton organization, cellular component organization
Component cytoplasm, nucleus
Function actin binding, Rho GTPase binding
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (79)    Tissues (13)    Images (22)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 79
cDNA source data(54)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase diaph3    NEW 
Molecular
reagents
All nucleic(54) cDNA(54)
Microarray probesets(5)
Other database
links
Ensembl Gene Model ENSMUSG00000022021 (Evidence)
Entrez Gene 56419 (Evidence)
UniGene 440585
DFCI TC1651227, TC1615777, TC1582021
DoTS DT.110775512, DT.97410715, DT.97385046, DT.110775527, DT.487272, DT.55281693
NIA Mouse Gene Index U035818
Consensus CDS Project CCDS36990.1
International Mouse Phenotyping Consortium Status Diap3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000022021 Ensembl Gene Model | MGI Sequence Detail 485858 C57BL/6J ±  kb
transcript ENSMUST00000022599 Ensembl | MGI Sequence Detail 4582 Not Applicable 
polypeptide ENSMUSP00000022599 Ensembl | MGI Sequence Detail 1171 Not Applicable 

For the selected sequences
All sequences(47) RefSeq(6) UniProt(10)
Polymorphisms
SNPs within 2kb(5342 from dbSNP Build 137)    SNPs within 2kb including multiple locations(5356)
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:000006477 protein diaphanous homolog 3
References
(Earliest) J:46957 Alberts AS, et al., Analysis of RhoA-binding proteins reveals an interaction domain conserved in heterotrimeric G protein beta subunits and the yeast response regulator protein Skn7. J Biol Chem. 1998 Apr 10;273(15):8616-22
(Latest) J:206027 Shin H, et al., The formin protein mDia2 serves as a marker of spindle pole dynamics in vitrified-warmed mouse oocytes. PLoS One. 2013;8(9):e75729
All references(53)
Disease annotation references (1)
Other
accession IDs
MGI:1914650

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
06/23/2015
MGI 5.22
The Jackson Laboratory