DIAPH2: Diaphanous Related Formin 2
Actin cytoskeleton regulator involved in ovarian function and cancer
Gene Information Card
| Symbol | DIAPH2 |
|---|---|
| Full Name | Diaphanous Related Formin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | Xq21.33 |
| NCBI Gene ID | 1730 ncbi.nlm.nih.gov/gene/1730 |
| Ensembl ID | ENSG00000147202 |
| UniProt ID | O60879 |
| OMIM ID | 300108 |
| HGNC ID | 2877 |
| Aliases | DIA, DIA2, DRF2, mKIAA0454 |
Description
DIAPH2 encodes a member of the diaphanous subfamily of formin proteins, which act as effectors of Rho GTPases to nucleate and elongate unbranched actin filaments. The protein is involved in cytokinesis, cell migration, and vesicle trafficking. Mutations in DIAPH2 are associated with premature ovarian failure (POF2A) and have been implicated in ovarian and other cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Premature ovarian failure 2A (POF2A) | Loss-of-function mutations disrupt actin dynamics in ovarian granulosa cells, impairing folliculogenesis | OMIM #300108; PMID: 9643281 |
| Ovarian cancer | Altered DIAPH2 expression affects cell migration and invasion; somatic mutations observed | COSMIC; PMID: 22955915 |
| Colorectal cancer | DIAPH2 overexpression linked to poor prognosis and metastasis | PMID: 29348627 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Ovary | 12.5 | Medium |
| Testis | 8.3 | Low |
| Brain | 6.1 | Low |
| Lung | 4.7 | Low |
| Colon | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| A549 | 10.8 | Lung adenocarcinoma |
| MCF7 | 7.4 | Breast cancer |
| OVCAR-3 | 18.6 | Ovarian cancer |
| HCT116 | 9.1 | Colorectal carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.124C>T (p.Arg42*) | Nonsense | Rare | Loss of function; associated with POF2A |
| c.185G>A (p.Arg62His) | Missense | <0.01% | Unknown significance |
| c.2032_2033del (p.Glu678fs) | Frameshift | Somatic | Truncation; observed in ovarian cancer |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations truncate the FH2 domain, abolishing actin nucleation activity.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Some missense variants may interfere with wild-type DIAPH2 function, but evidence is limited.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Rho GTPase cycle (R-HSA-194840)
• Signaling by Rho GTPases (R-HSA-194315)
• Actin nucleation by ARP2/3 complex and formins (R-HSA-5663222)
Protein Summary
DIAPH2 (diaphanous related formin 2) is a 1,203-amino-acid protein containing an N-terminal Rho-GTPase binding domain (GBD), a formin homology 1 (FH1) domain rich in proline, and a formin homology 2 (FH2) domain that mediates actin nucleation. It localizes to the cytoplasm and cell cortex, promoting linear actin filament assembly. The protein is autoinhibited by intramolecular interaction between the GBD and diaphanous autoregulatory domain (DAD); Rho binding relieves this inhibition.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DIAPH2 Knockout HEK293 Cell Line | EDJ-KQ4441 | Human | 1730 | Details Get a Quote |
| DIAPH2 Knockout HCT 116 Cell Line | EDJ-KQ26993 | Human | 1730 | Details Get a Quote |
| DIAPH2 Knockout HeLa Cell Line | EDJ-KQ26994 | Human | 1730 | Details Get a Quote |
| DIAPH2 Knockout A-549 Cell Line | EDJ-KQ25722 | Human | 1730 | Details Get a Quote |
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