GNB2

Chr 7q22.1

G protein subunit beta 2

MANE:: ENST00000303210.9

OMIM: 139390 ↗NCBI: 2783 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

GNB2 · P62879

v62025-08-01

Predicted Aligned Error matrix for GNB2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.9/ 100

Very high

340 residues

Confidence breakdown

Very high(≥ 90)97%
Confident(70–90)2%
Low(50–70)1%
Very low(< 50)0%

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
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mosaic skin disorders - deep sequencing
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

neurodevelopmental disorder with hypotonia and dysmorphic facies
0.69
familial sick sinus syndrome
0.52
complex neurodevelopmental disorder
0.37
hereditary disease
0.34
Global developmental delay
0.27
Sturge-Weber syndrome
0.19
inflammatory bowel disease
0.12
schizophrenia
0.09
colorectal carcinoma
0.09
acute myeloid leukemia
0.08

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

Protein function (UniProt)

Guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-2

Guanine nucleotide-binding proteins (G proteins) are involved as a modulator or transducer in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction