DIAPH3

Chr 13q21.2

diaphanous related formin 3

Aliases:: DRF3, FLJ34705, AN, NSDAN
MANE:: ENST00000400324.9

OMIM: 614567 ↗NCBI: 81624 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

DIAPH3 · Q9NSV4

v62025-08-01

Predicted Aligned Error matrix for DIAPH3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

71.8/ 100

Confident

1,193 residues

Confidence breakdown

Very high(≥ 90)30%
Confident(70–90)35%
Low(50–70)10%
Very low(< 50)26%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Auditory Neuropathy Spectrum Disorde
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal dominant nonsyndromic hearing loss
0.57
smoking initiation
0.36
insomnia
0.32
metabolic syndrome X
0.31
restless legs syndrome
0.31
endometriosis
0.30
Tietze syndrome
0.30
Alzheimer disease
0.30
kidney failure
0.30
lysosomal storage disease
0.30

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein diaphanous homolog 3

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers. Required for cytokinesis, stress fiber formation and transcriptional activation of the serum response factor. Binds to GTP-bound form of Rho and to profilin: acts in a Rho-dependent manner to recruit profilin to the membrane, where it promotes actin polymerization. DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics. Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity