RHOBTB2

Chr 8p21.3

Rho related BTB domain containing 2

Aliases:: KIAA0717, DBC2
MANE:: ENST00000251822.7

OMIM: 607352 ↗NCBI: 23221 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

RHOBTB2 · Q9BYZ6

v62025-08-01

Predicted Aligned Error matrix for RHOBTB2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

81.2/ 100

Confident

727 residues

Confidence breakdown

Very high(≥ 90)62%
Confident(70–90)17%
Low(50–70)5%
Very low(< 50)16%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

genetic developmental and epileptic encephalopathy
0.70
hereditary disease
0.50
developmental and epileptic encephalopathy
0.46
complex neurodevelopmental disorder
0.46
basal cell carcinoma
0.46
Seizure
0.43
renal carcinoma
0.41
clear cell renal carcinoma
0.39
alternating hemiplegia of childhood
0.37
early-infantile DEE
0.37

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

Protein function (UniProt)

Rho-related BTB domain-containing protein 2

Regulator of cell proliferation and apoptosis (PubMed:21801820). It likely functions as a substrate-adapter that recruits key substrates, e.g. MSI2, to CUL3-based ubiquitin ligase complexes for degradation (PubMed:15107402, PubMed:27941885). Required for MSI2 ubiquitination and degradation (PubMed:27941885)