Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6443
Gene name Gene Name - the full gene name approved by the HGNC.
Sarcoglycan beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SGCB
Synonyms (NCBI Gene) Gene synonyms aliases
A3b, LGMD2E, LGMDR4, SGC
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs28936383 G>C Pathogenic, pathogenic-likely-pathogenic Missense variant, coding sequence variant
rs104893868 A>C Likely-pathogenic Stop gained, coding sequence variant
rs104893869 C>A,G,T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs104893870 A>C Pathogenic Missense variant, coding sequence variant
rs104893871 A>T Pathogenic-likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT016183 hsa-miR-590-3p Sequencing 20371350
MIRT024317 hsa-miR-215-5p Microarray 19074876
MIRT026183 hsa-miR-192-5p Microarray 19074876
MIRT030684 hsa-miR-21-5p Microarray 18591254
MIRT1342814 hsa-let-7a CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 28514442, 32296183
GO:0005737 Component Cytoplasm IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0005856 Component Cytoskeleton IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600900 10806 ENSG00000163069
Protein
UniProt ID Q16585
Protein name Beta-sarcoglycan (Beta-SG) (43 kDa dystrophin-associated glycoprotein) (43DAG) (A3b)
Protein 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.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04790 Sarcoglycan_1 54 303 Sarcoglycan complex subunit protein Family
Tissue specificity 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.
Sequence
Sequence length 318
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cytoskeleton in muscle cells
Hypertrophic cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Dilated cardiomyopathy
Viral myocarditis
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Primary dilated cardiomyopathy rs398123262 N/A
Limb-girdle muscular dystrophy Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy, Limb-Girdle Muscular Dystrophy, Recessive rs1553940661, rs150518260, rs1057517051, rs28936383, rs555514820, rs1553940663, rs398123262, rs1057516360, rs1013015106, rs1553940957, rs747809412, rs104893868, rs762114570, rs796065319, rs751427729
View all (24 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Beta sarcoglycanopathy Associate 25862795, 31937337, 36077211
Cardiomyopathies Associate 10662809
Charcot Marie Tooth disease Type 2F Associate 24565866
Glycogen Storage Disease Type II Associate 31931849
Heart Defects Congenital Associate 10662809
Heart Diseases Associate 10662809, 25862795
Hypertension Pulmonary Associate 27048385
Limb girdle muscular dystrophy autosomal recessive Associate 9032047
Limb girdle muscular dystrophy type 2A Associate 25135358, 31937337
Limb girdle muscular dystrophy type 2C Associate 33386810