InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SGCB

Summary

InnateDB Protein

IDBP-18071.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SGCB

Protein Name

sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)

Synonyms

A3b; LGMD2E; SGC;

Species

Homo sapiens

Ensembl Protein

ENSP00000370839

InnateDB Gene

IDBG-18069 (SGCB)

Protein Structure

UniProt Annotation

Function

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.

Subcellular Localization

Cell membrane, sarcolemma {ECO:0000250}; Single-pass type II membrane protein {ECO:0000250}. Cytoplasm, cytoskeleton {ECO:0000250}.

Disease Associations

Limb-girdle muscular dystrophy 2E (LGMD2E) [MIM:604286]: An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. {ECO:0000269PubMed:8968749, ECO:0000269PubMed:9565988, ECO:0000269PubMed:9631401}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highest expression in heart and skeletal muscle. Low expression in brain, kidney, placenta, pancreas and lung. High expression in fetal brain. Also found in fetal lung, kidney and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	1 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession

GO Term

Biological Process

GO:0007517	muscle organ development
GO:0048747	muscle fiber development
GO:0055013	cardiac muscle cell development
GO:0097084	vascular smooth muscle cell development

Cellular Component

GO:0005737	cytoplasm
GO:0005856	cytoskeleton
GO:0005887	integral component of plasma membrane
GO:0016010	dystrophin-associated glycoprotein complex
GO:0016011	dystroglycan complex
GO:0016012	sarcoglycan complex
GO:0016021	integral component of membrane
GO:0042383	sarcolemma