Target intelligence / Profile preview

Protein diaphanous homolog 2 (DIAPH2)

Target
DIAPH2
Molecular classification
Cytoskeletal regulatory protein, Formin family, Actin-binding protein, Other
01

Overview

Protein diaphanous homolog 2 (DIAPH2) is a member of the diaphanous subfamily of the formin homology proteins, which regulate the cytoskeleton, specifically actin filament elongation and microtubule stabilization[1][3][5]. DIAPH2 is expressed in various tissues, with noted roles in the development and function of the ovaries and emerging evidence for specialized expression and possible roles in cochlear hair cells and endosomal trafficking[1][3][5]. Genetic mutations or disruptions in DIAPH2 are linked to premature ovarian failure (POF), a disorder marked by ovarian dysfunction and early infertility, and may affect processes dependent on cytoskeletal remodeling such as cell division and motility[2][4][5]. DIAPH2 is also induced by Rho GTPases and interacts with proteins like RhoD to affect endosome motility[3][5]. At present, there are no known drugs that directly target DIAPH2, nor is it considered a standard pharmacotherapeutic target.

Other names
DIADRF2POFPOF2DIA2Diaphanous-related formin-2Premature ovarian failure 2Aprotein diaphanous homolog 2diaphanous homolog 2diaphorase-2POF2A
02

Biological functions

Regulation of actin elongationMicrotubule stabilizationCell motilityOogenesisSignal transductionCytokinesisRegulation of endosome dynamics
03

Disease associations

Premature ovarian failurePrimary ovarian insufficiencyOogenesis/infertility disordersPossible association with non-syndromic hearing lossOther
04

Safety considerations

Genetic variants may lead to premature ovarian failure[2][3][4][6]
05

Biomarkers

Anti-Müllerian hormone (AMH) for ovarian reserve (indirect, linked to POF)[6]Inhibin B (for ovarian reserve, indirect)[6]FSH (biomarker of ovarian function, indirect)[6]

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