SGCB

Chr 4q12

sarcoglycan beta

Aliases:: SGC, A3b
MANE:: ENST00000381431.10

OMIM: 600900 ↗NCBI: 6443 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SGCB · Q16585

v62025-08-01

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

Mean pLDDT

76.4/ 100

Confident

318 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)62%
Low(50–70)18%
Very low(< 50)8%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
BIALLELIC, autosomal or pseudoautosomal
Arthrogryposis
Dilated Cardiomyopathy and conduction defects
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

autosomal recessive limb-girdle muscular dystrophy type 2E
0.81
autosomal recessive limb-girdle muscular dystrophy
0.70
qualitative or quantitative defects of beta-sarcoglycan
0.47
hereditary disease
0.46
dilated cardiomyopathy
0.39
limb-girdle muscular dystrophy
0.38
Abnormality of the musculature
0.33
stroke disorder
0.30
alcohol drinking
0.28
sialidosis
0.27

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

Protein function (UniProt)

Beta-sarcoglycan

Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix