DIAPH3 (diaphanous related formin 3)

2012-12-01  

Identity

HGNC
LOCATION
13q21.2
LOCUSID
ALIAS
AN,AUNA1,DIA2,DRF3,NSDAN,diap3,mDia2
FUSION GENES

Other Information

Locus ID:

NCBI: 81624
MIM: 614567
HGNC: 15480
Ensembl: ENSG00000139734

Variants:

dbSNP: 81624
ClinVar: 81624
TCGA: ENSG00000139734
COSMIC: DIAPH3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139734ENST00000267215Q9NSV4
ENSG00000139734ENST00000377908Q9NSV4
ENSG00000139734ENST00000400319Q9NSV4
ENSG00000139734ENST00000400320Q9NSV4
ENSG00000139734ENST00000400324Q9NSV4
ENSG00000139734ENST00000465066Q9NSV4
ENSG00000139734ENST00000498416Q9NSV4

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Regulation of actin cytoskeletonKEGGko04810
Regulation of actin cytoskeletonKEGGhsa04810
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
RHO GTPase EffectorsREACTOMER-HSA-195258
RHO GTPases Activate ForminsREACTOMER-HSA-5663220

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
178553862007mDia2 regulates actin and focal adhesion dynamics and organization in the lamella for efficient epithelial cell migration.71
173980992007Dia-interacting protein modulates formin-mediated actin assembly at the cell cortex.58
185160902008WAVE and Arp2/3 jointly inhibit filopodium formation by entering into a complex with mDia2.53
213978452011Aurora B regulates formin mDia3 in achieving metaphase chromosome alignment.53
171987022007RhoB and the mammalian Diaphanous-related formin mDia2 in endosome trafficking.45
187550062008Filopodia formation induced by active mDia2/Drf3.45
225930252012DIAPH3 governs the cellular transition to the amoeboid tumour phenotype.32
211190102011Mechanisms of plasma membrane targeting of formin mDia2 through its amino terminal domains.31
194578672009Ubiquitin-mediated degradation of the formin mDia2 upon completion of cell division.23
235806452013Control of myofibroblast differentiation by microtubule dynamics through a regulated localization of mDia2.21

Citation

Dessen P

DIAPH3 (diaphanous related formin 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53110/diaph3