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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DIAPH3
diaphanous related formin 3
Chromosome 13 · 13q21.2
NCBI Gene: 81624Ensembl: ENSG00000139734.19HGNC: HGNC:15480UniProt: B4DPV3
97PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cadherin bindingmicrotubule cytoskeletonplasma membranenucleusautosomal dominant nonsyndromic hearing lossinsomniarestless legs syndromesmoking initiation
✦AI Summary

DIAPH3 is a formin family actin nucleator and elongation factor that nucleates F-actin structures including stress fibers and actin cables 1. The protein contains functional FDD, FH1, and FH2 domains characteristic of formin-homology proteins, with the FH1 domain binding profilin and the FH2 domain modifying actin filaments 1. DIAPH3 functions as a Rho-dependent effector, binding GTP-bound Rho to recruit profilin to the membrane and promote actin polymerization [UniProt]. The protein performs dual cytoplasmic and nuclear roles: cytoplasmically, it regulates stress fiber formation and cytokinesis by nucleating β-actin networks essential for maintaining myosin-II and RhoA at the cytokinetic furrow 2; nuclearly, it drives serum-dependent SRF-MRTFA activity through nuclear actin polymerization. DIAPH3 activity is tightly regulated through DID-DAD autoinhibitory domain interactions that are disrupted by RhoA binding, with Stub1-mediated ubiquitination of activated DIAPH3 providing negative feedback 3. Disease associations include autosomal dominant auditory neuropathy, where DIAPH3 overexpression causes pathology 3. DIAPH3 is dysregulated in multiple cancers: in hepatocellular carcinoma, alternative splicing of DIAPH3 exon 3 driven by the lncRNA LINC01089 suppresses tumor suppressive functions and promotes EMT 4; in breast cancer, YAP-regulated DIAPH3 contributes to cancer-associated fibroblast activation and matrix remodeling 5; and in pancreatic cancer and glioblastoma, DIAPH3 serves as a prognostic biomarker linked to malignant cell proliferation 67.

Sources cited
1
DIAPH3 is a formin family actin nucleator and elongation factor that nucleates F-actin structures including stress fibers and actin cables .
PMID: 14767582
2
The protein performs dual cytoplasmic and nuclear roles: cytoplasmically, it regulates stress fiber formation and cytokinesis by nucleating β-actin networks essential for maintaining myosin-II and RhoA at the cytokinetic furrow ; nuclearly, it drives serum-dependent SRF-MRTFA activity through nuclear actin polymerization.
PMID: 38897998
3
DIAPH3 activity is tightly regulated through DID-DAD autoinhibitory domain interactions that are disrupted by RhoA binding, with Stub1-mediated ubiquitination of activated DIAPH3 providing negative feedback .
PMID: 39322015
4
DIAPH3 is dysregulated in multiple cancers: in hepatocellular carcinoma, alternative splicing of DIAPH3 exon 3 driven by the lncRNA LINC01089 suppresses tumor suppressive functions and promotes EMT ; in breast cancer, YAP-regulated DIAPH3 contributes to cancer-associated fibroblast activation and matrix remodeling ; and in pancreatic cancer and glioblastoma, DIAPH3 serves as a prognostic biomarker linked to malignant cell proliferation , .
PMID: 37756562
5
DIAPH3 is dysregulated in multiple cancers: in hepatocellular carcinoma, alternative splicing of DIAPH3 exon 3 driven by the lncRNA LINC01089 suppresses tumor suppressive functions and promotes EMT ; in breast cancer, YAP-regulated DIAPH3 contributes to cancer-associated fibroblast activation and matrix remodeling ; and in pancreatic cancer and glioblastoma, DIAPH3 serves as a prognostic biomarker linked to malignant cell proliferation , .
PMID: 23708000
Disease Associationsⓘ21
autosomal dominant nonsyndromic hearing lossOpen Targets
0.57Moderate
insomniaOpen Targets
0.35Weak
restless legs syndromeOpen Targets
0.35Weak
smoking initiationOpen Targets
0.35Weak
metabolic syndrome XOpen Targets
0.33Weak
endometriosisOpen Targets
0.31Weak
menopausal or post-menopausal diseaseOpen Targets
0.31Weak
osteoarthritisOpen Targets
0.30Weak
Alzheimer diseaseOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.30Weak
lysosomal storage diseaseOpen Targets
0.30Weak
multiple sclerosisOpen Targets
0.30Weak
Parkinson diseaseOpen Targets
0.30Weak
kidney failureOpen Targets
0.29Weak
Tietze syndromeOpen Targets
0.29Weak
liver diseaseOpen Targets
0.28Weak
nervous system benign neoplasmOpen Targets
0.28Weak
retinal artery occlusionOpen Targets
0.28Weak
Abdominal painOpen Targets
0.28Weak
HeadacheOpen Targets
0.28Weak
Auditory neuropathy, autosomal dominant 1UniProt
Pathogenic Variants1
NM_001042517.2(DIAPH3):c.2059del (p.Cys687fs)Pathogenic
Autosomal dominant auditory neuropathy 1
☆☆☆☆2020→ Residue 687
View on ClinVar ↗
Related Genes
CCNB2Protein interaction100%RHOBProtein interaction99%RAC2Protein interaction96%ASPMProtein interaction95%RHOAProtein interaction94%PFN4Protein interaction92%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
15%
Lung
5%
Heart
1%
Liver
1%
Ovary
0%
Gene Interaction Network
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DIAPH3CCNB2RHOBRAC2ASPMRHOAPFN4
PROTEIN STRUCTURE
Preparing viewer…
PDB5UWP · 2.05 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.62–0.89]
RankingsWhere DIAPH3 stands among ~20K protein-coding genes
  • #4,932of 20,598
    Most Researched97 · top quartile
  • #4,898of 5,498
    Most Pathogenic Variants1
  • #7,955of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedDIAPH3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mechanotransduction and YAP-dependent matrix remodelling is required for the generation and maintenance of cancer-associated fibroblasts.
PMID: 23708000
Nat Cell Biol · 2013
1.00
2
Super Enhancer-Regulated LncRNA LINC01089 Induces Alternative Splicing of DIAPH3 to Drive Hepatocellular Carcinoma Metastasis.
PMID: 37756562
Cancer Res · 2023
0.90
3
Identification and characterization of human DIAPH3 gene in silico.
PMID: 14767582
Int J Mol Med · 2004
0.80
4
Stub1 promotes degradation of the activated Diaph3: A negative feedback regulatory mechanism of the actin nucleator.
PMID: 39322015
J Biol Chem · 2024
0.70
5
Unveiling novel cell clusters and biomarkers in glioblastoma and its peritumoral microenvironment at the single-cell perspective.
PMID: 38851695
J Transl Med · 2024
0.60