• Gene id: 6443

Gene Summary

• Gene Symbol: SGCB   Gene   UCSC   Ensembl
• Aliases: A3b, LGMD2E, LGMDR4, SGC
• Gene name: sarcoglycan beta
• Alternate names: beta-sarcoglycan, 43 kDa dystrophin-associated glycoprotein, 43DAG, beta-SG, beta-sarcoglycan(43kD dystrophin-associated glycoprotein), limb girdle muscular dystrophy 2E (non-linked families), sarcoglycan, beta (43kDa dystrophin-associated glycoprotein),
• Gene location: 4q12 (52671098: 52686587)     Exons: 5     NC_000006.12
• Gene summary(Entrez): 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
• OMIM: 600900

Protein Summary

• Protein general information: Q16585  
  • Name: Beta sarcoglycan (Beta SG) (43 kDa dystrophin associated glycoprotein) (43DAG) (A3b)
  • Length: 318  
  • Mass: 34777
  • 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:

  MAAAAAAAAEQQSSNGPVKKSMREKAVERRSVNKEHNSNFKAGYIPIDEDRLHKTGLRGRKGNLAICVIILLFIL
  AVINLIITLVIWAVIRIGPNGCDSMEFHESGLLRFKQVSDMGVIHPLYKSTVGGRRNENLVITGNNQPIVFQQGT
  TKLSVENNKTSITSDIGMQFFDPRTQNILFSTDYETHEFHLPSGVKSLNVQKASTERITSNATSDLNIKVDGRAI
  VRGNEGVFIMGKTIEFHMGGNMELKAENSIILNGSVMVSTTRLPSSSSGDQLGSGDWVRYKLCMCADGTLFKVQV
  TSQNMGCQISDNPCGNTH

• Structural information:
  • Interpro: IPR006875  IPR027659  
  • STRING: ENSP00000370839
• Other Databases: GeneCards:  SGCB  Malacards:  SGCB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007517	muscle organ development	IEA	biological process
GO:0016012	sarcoglycan complex	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007517	muscle organ development	TAS	biological process
GO:0007517	muscle organ development	TAS	biological process
GO:0016012	sarcoglycan complex	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0055013	cardiac muscle cell development	IEA	biological process
GO:0016012	sarcoglycan complex	IEA	cellular component
GO:0097084	vascular smooth muscle cell development	IEA	biological process
GO:0048747	muscle fiber development	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0016011	dystroglycan complex	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0042383	sarcolemma	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016010	dystrophin-associated glycoprotein complex	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05414	Dilated cardiomyopathy
hsa05410	Hypertrophic cardiomyopathy
hsa05412	Arrhythmogenic right ventricular cardiomyopathy
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
Limb-girdle muscular dystrophy	KEGG:H00593
Sarcoglycanopathies	KEGG:H00565
Limb-girdle muscular dystrophy	KEGG:H00593
Sarcoglycanopathies	KEGG:H00565
autosomal recessive limb-girdle muscular dystrophy type 2E	PMID:28284983
Muscular dystrophy	PMID:9631401
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq