RHOH

Chr 4p14

ras homolog family member H

Aliases:: TTF
MANE:: ENST00000381799.10

OMIM: 602037 ↗NCBI: 399 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

RHOH · Q15669

v62025-08-01

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

Mean pLDDT

93.1/ 100

Very high

191 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)16%
Low(50–70)4%
Very low(< 50)1%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Epidermodysplasia verruciformis
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

T-cell immunodeficiency with epidermodysplasia verruciformis
0.44
epidermodysplasia verruciformis
0.42
combined immunodeficiency
0.42
severe combined immunodeficiency
0.42
lymphoid neoplasm
0.37
breast ductal adenocarcinoma
0.37
ovarian endometrioid adenocarcinoma with squamous differentiation
0.37
carcinoma of liver and intrahepatic biliary tract
0.37
endocrine system disorder
0.33
hypothyroidism
0.32

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

Protein function (UniProt)

Rho-related GTP-binding protein RhoH

Negative regulator of hematopoietic progenitor cell proliferation, survival and migration. Critical regulator of thymocyte development and T-cell antigen receptor (TCR) signaling by mediating recruitment and activation of ZAP70. Required for phosphorylation of CD3Z, membrane translocation of ZAP70 and subsequent activation of the ZAP70-mediated pathways. Essential for efficient beta-selection and positive selection by promoting the ZAP70-dependent phosphorylation of the LAT signalosome during pre-TCR and TCR signaling. Crucial for thymocyte maturation during DN3 to DN4 transition and during positive selection. Plays critical roles in mast cell function by facilitating phosphorylation of SYK in Fc epsilon RI-mediated signal transduction. Essential for the phosphorylation of LAT, LCP2, PLCG1 and PLCG2 and for Ca(2+) mobilization in mast cells (By similarity). Binds GTP but lacks intrinsic GTPase activity and is resistant to Rho-specific GTPase-activating proteins. Inhibits the activation of NF-kappa-B by TNF and IKKB and the activation of CRK/p38 by TNF. Inhibits activities of RAC1, RHOA and CDC42. Negatively regulates leukotriene production in neutrophils