DIAPH3 Gene - Diaphanous Related Formin 3
Key regulator of actin cytoskeleton dynamics and cell motility
Gene Information Card
| Symbol | DIAPH3 |
|---|---|
| Full Name | diaphanous related formin 3 |
| Gene Type | protein coding |
| Chromosomal Location | 13q21.2 |
| NCBI Gene ID | 81624 ncbi.nlm.nih.gov/gene/81624 |
| Ensembl ID | ENSG00000187498 |
| UniProt ID | Q9NSV4 |
| OMIM ID | 614567 |
| HGNC ID | 15480 |
| Aliases | DIAPH3, DIA2, DRF3, mDia2 |
Description
DIAPH3 encodes a member of the diaphanous subfamily of formin proteins, which act as actin nucleation and elongation factors. The protein regulates actin cytoskeleton dynamics, cell polarity, cytokinesis, and vesicle trafficking. Mutations in DIAPH3 are associated with autosomal dominant nonsyndromic hearing loss (DFNA1) and have been implicated in cancer cell invasion and metastasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal dominant nonsyndromic hearing loss (DFNA1) | Missense mutations in DIAPH3 disrupt actin polymerization in cochlear hair cells, leading to progressive hearing loss. | OMIM #614567; ClinVar |
| Prostate cancer | Overexpression of DIAPH3 promotes cell migration and invasion via actin remodeling. | COSMIC; PMID: 23431136 |
| Breast cancer | DIAPH3 amplification correlates with metastatic potential and poor prognosis. | COSMIC; PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Medium |
| Lung | 6.5 | Medium |
| Liver | 4.1 | Low |
| Kidney | 7.3 | Medium |
| Testis | 12.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| A549 | 7.1 | Lung adenocarcinoma cell line |
| MCF7 | 6.3 | Breast cancer cell line |
| PC3 | 11.5 | Prostate cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3637C>T (p.Arg1213Trp) | Missense | Rare | Associated with DFNA1 hearing loss |
| c.3610G>A (p.Gly1204Ser) | Missense | Rare | Likely pathogenic in hearing loss |
| Amplification | Copy number gain | Frequent in prostate cancer | Increased DIAPH3 expression and cell motility |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in the FH2 domain impair actin nucleation activity, leading to hearing loss.
Gain of Function (GOF)
Overexpression or amplification in cancers enhances actin polymerization and cell invasion.
Dominant Negative (DN)
Some missense variants may act as dominant-negative by disrupting dimerization with other formins.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase signaling (RhoA/DIAPH3)
• Actin cytoskeleton regulation
• Formin-mediated actin nucleation
Protein Summary
DIAPH3 (mDia2) is a 1258-amino acid formin protein containing FH1, FH2, and FH3 domains. It nucleates and elongates unbranched actin filaments, responding to Rho GTPase signals. The protein is critical for cytokinesis, cell polarity, and vesicle trafficking. Mutations in the FH2 domain cause hearing loss, while overexpression in cancers promotes metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIAPH3 Knockout HEK293 Cell Line | EDJ-KQ3358 | Human | 81624 | Details Get a Quote |
| DIAPH3 Knockout HCT 116 Cell Line | EDJ-KQ25023 | Human | 81624 | Details Get a Quote |
| DIAPH3 Knockout HeLa Cell Line | EDJ-KQ25024 | Human | 81624 | Details Get a Quote |
| DIAPH3 Knockout A-549 Cell Line | EDJ-KQ23631 | Human | 81624 | Details Get a Quote |
