SH3BP2

Chr 4p16.3

SH3 domain binding protein 2

Aliases:: RES4-23, CRBM
MANE:: ENST00000503393.8

OMIM: 602104 ↗NCBI: 6452 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SH3BP2 · P78314

v62025-08-01

Predicted Aligned Error matrix for SH3BP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

65.3/ 100

Low

561 residues

Confidence breakdown

Very high(≥ 90)33%
Confident(70–90)10%
Low(50–70)16%
Very low(< 50)42%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Autoinflammatory disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
COVID-19 research
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

cherubism
0.80
hypothyroidism
0.42
Hodgkins lymphoma
0.31
thyroid gland disorder
0.30
chondromalacia
0.29
hereditary disease
0.20
systemic lupus erythematosus
0.10
rheumatoid arthritis
0.09
gastrointestinal stromal tumor
0.09
osteoarthritis, hip
0.09

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

Protein function (UniProt)

SH3 domain-binding protein 2

Binds differentially to the SH3 domains of certain proteins of signal transduction pathways. Binds to phosphatidylinositols; linking the hemopoietic tyrosine kinase fes to the cytoplasmic membrane in a phosphorylation dependent mechanism