Sgcb sarcoglycan, beta (dystrophin-associated glycoprotein) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sgcbprovided by MGI
Official Full Name: sarcoglycan, beta (dystrophin-associated glycoprotein)provided by MGI
Primary source: MGI:MGI:1346523
See related: Ensembl:ENSMUSG00000029156 AllianceGenome:MGI:1346523
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 43DAG; beta-SG
Summary: Acts upstream of or within several processes, including glucose import in response to insulin stimulus; muscle cell development; and response to glucose. Located in sarcolemma. Part of sarcoglycan complex. Is expressed in extraembryonic component; genitourinary system; musculature; and nervous system. Used to study autosomal recessive limb-girdle muscular dystrophy type 2E. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2E and muscular dystrophy. Orthologous to human SGCB (sarcoglycan beta). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in heart adult (RPKM 21.5), cerebellum adult (RPKM 13.5) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 C3.3; 5 38.89 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (73790092..73805080, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (73632749..73647737, complement)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Generate a new knock-in model carrying the missense mutation T151R in the beta-sarcoglycan gene since this is the second sarcoglycan protein with the most frequently reported missense mutations. Muscle analysis, performed at the age of 4 and 9-months, showed the presence of the mutated beta-sarcoglycan protein and of the other components of the dystrophin-associated glycoprotein complex at the muscle membrane.
Title: Different outcome of sarcoglycan missense mutation between human and mouse.
beta-Sarcoglycan deficiency reduces atherosclerotic plaque formation in ApoE-knockout mouse model.
Title: β-Sarcoglycan Deficiency Reduces Atherosclerotic Plaque Development in ApoE-Null Mice.
In Sgcb-null mice, severe morphological disruption was present from 4 weeks in both quadriceps and diaphragm, and included conspicuous deposition of extracellular matrix components.
Title: Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.
Aging leads to changes in expression of beta-sarcoglycan in aged affected muscles (diaphragm and limb).
Title: Age-related changes in dystrophin-glycoprotein complex and in utrophin are not correlated with intrinsic laryngeal muscles protection in mdx mice.
Data demonstrate a novel function of the sarcoglycan complex in whole body glucose homeostasis and skeletal muscle metabolism, suggesting that the impairment of the skeletal muscle metabolism influences the pathogenesis of muscular dystrophy.
Title: Sarcoglycan complex: implications for metabolic defects in muscular dystrophies.
Sarcoglycan beta missense mutations affect sarcoglycan complex assembly and/or localization to the cell surface and provide information on the molecular mechanisms underlying the effects of various sarcoglycan mutations in muscular dystrophies.
Title: Identification of functional domains in sarcoglycans essential for their interaction and plasma membrane targeting.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AI844814 (e-PCR)
- UniSTS:165400

AI747103 (e-PCR)
- UniSTS:179174

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cardiac muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose homeostasis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within glucose import in response to insulin stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within membrane organization	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in muscle organ development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within response to glucose	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within vascular associated smooth muscle cell development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of dystroglycan complex	IDA Inferred from Direct Assay more info	PubMed
part_of dystrophin-associated glycoprotein complex	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed
part_of sarcoglycan complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sarcoglycan complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in sarcolemma	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: beta-sarcoglycan

Names: 43 kDa dystrophin-associated glycoprotein; sarcoglycan, beta (43kD dystrophin-associated glycoprotein)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.