DIAPH3 (diaphanous related formin 3)

2012-12-01  

Identity

HGNC
DIAPH3
LOCATION
13q21.2
LOCUSID
81624
ALIAS
AN,AUNA1,DIA2,DRF3,NSDAN,diap3,mDia2
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
386136362024CircDiaph3 aggravates H/R-induced cardiomyocyte apoptosis and inflammation through miR-338-3p/SRSF1 axis.0
386136362024CircDiaph3 aggravates H/R-induced cardiomyocyte apoptosis and inflammation through miR-338-3p/SRSF1 axis.0
366403482023DIAPH3 condensates formed by liquid-liquid phase separation act as a regulatory hub for stress-induced actin cytoskeleton remodeling.5
367502002023The pan-cancer analysis identified DIAPH3 as a diagnostic biomarker of clinical cancer.1
377565622023Super Enhancer-Regulated LncRNA LINC01089 Induces Alternative Splicing of DIAPH3 to Drive Hepatocellular Carcinoma Metastasis.4
366403482023DIAPH3 condensates formed by liquid-liquid phase separation act as a regulatory hub for stress-induced actin cytoskeleton remodeling.5
367502002023The pan-cancer analysis identified DIAPH3 as a diagnostic biomarker of clinical cancer.1
377565622023Super Enhancer-Regulated LncRNA LINC01089 Induces Alternative Splicing of DIAPH3 to Drive Hepatocellular Carcinoma Metastasis.4
353802942022Diaph3 underlines tumor cell heterogeneity in glioblastoma with implications for treatment modalities resistance.1
355389182022DIAPH3 is a prognostic biomarker and inhibit colorectal cancer progression through maintaining EGFR degradation.1
353802942022Diaph3 underlines tumor cell heterogeneity in glioblastoma with implications for treatment modalities resistance.1
355389182022DIAPH3 is a prognostic biomarker and inhibit colorectal cancer progression through maintaining EGFR degradation.1
333453872021DIAPH3 promotes pancreatic cancer progression by activating selenoprotein TrxR1-mediated antioxidant effects.20
333453872021DIAPH3 promotes pancreatic cancer progression by activating selenoprotein TrxR1-mediated antioxidant effects.20
332979762020Novel stromal biomarker screening in pancreatic cancer patients using the in vitro cancer-stromal interaction model.1

Citation

Dessen P

DIAPH3 (diaphanous related formin 3)

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/gene/53110/js/lib/css/gene-fusions-explorer/