Sgcg sarcoglycan, gamma (dystrophin-associated glycoprotein) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Sgcgprovided by MGI
Official Full Name: sarcoglycan, gamma (dystrophin-associated glycoprotein)provided by MGI
Primary source: MGI:MGI:1346524
See related: Ensembl:ENSMUSG00000035296 AllianceGenome:MGI:1346524
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: 35kDa; gamma-SG; 5430420E18Rik
Summary: Acts upstream of or within gene expression. Located in sarcolemma. Part of sarcoglycan complex. Is expressed in tongue; urinary system; and vertebral axis musculature. Used to study autosomal recessive limb-girdle muscular dystrophy type 2C and limb-girdle muscular dystrophy. Human ortholog(s) of this gene implicated in autosomal recessive limb-girdle muscular dystrophy type 2C and type 2 diabetes mellitus. Orthologous to human SGCG (sarcoglycan gamma). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in heart adult (RPKM 37.1), mammary gland adult (RPKM 4.1) and 1 other tissue See more
Orthologs: human all
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Genomic context

Location:: 14 D1; 14 32.27 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (61456555..61495939, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (61219106..61275062, complement)

Chromosome 14 - NC_000080.7 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
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?

Comparative genomic analyses of multiple backcross mouse populations suggest SGCG as a novel potential obesity-modifier gene.
Title: Comparative genomic analyses of multiple backcross mouse populations suggest SGCG as a novel potential obesity-modifier gene.
Cleavage of beta-DG still occurred when both MMP-2 and MMP-9 were knocked out in gamma - sarcoglycan-deficient mice. The study found that up-regulation of MMP-14 is capable of cleaving beta-DG, and it may be involved in the pathogenesis of sarcoglycanopathy.
Title: Cleavage of β-dystroglycan occurs in sarcoglycan-deficient skeletal muscle without MMP-2 and MMP-9.
for MD research. The Sgcg(-/-) mice have a more severe phenotype than the mdx mice. Muscle function was assessed by plethysmography and echocardiography. Histologically the Sgcg(-/-) mice displayed increased fibrosis and variable fiber size.
Title: Biochemical and Functional Comparisons of mdx and Sgcg(-/-) Muscular Dystrophy Mouse Models.
These results position archvillin as a mechanically sensitive component of the dystrophin complex and demonstrate that signaling defects caused by loss of gamma-SG occur both at the sarcolemma and in the nucleus.
Title: Gamma-sarcoglycan is required for the response of archvillin to mechanical stimulation in skeletal muscle.
This study supports a model where dystrophin, but not the sarcoglycans, protects the cardiac myocyte against mechanical damage.
Title: Distinct pathophysiological mechanisms of cardiomyopathy in hearts lacking dystrophin or the sarcoglycan complex.
localization of gamma-SG does not require Tyr(6), but localization alone is insufficient for restoration of normal signal transduction patterns after mechanical perturbation
Title: Restoration of gamma-sarcoglycan localization and mechanical signal transduction are independent in murine skeletal muscle.
The limb, shoulder, and pelvic muscles of the gsg-/- mice exhibited progressive muscle hypertrophy and weakness with age, and the findings were similar to those seen in other mouse models for limb-girdle and Duchenne muscular dystrophy.
Title: Pathological analysis of muscle hypertrophy and degeneration in muscular dystrophy in gamma-sarcoglycan-deficient mice.
Sarcoglycan gamma 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.
delta- and gamma-sarcoglycan prevent vascular spasm in coronary arteries and in vascular smooth muscle
Title: Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy.
sarcoglycan and integrin alpha7beta1 have overlapping roles in mediating cytoskeletal-membrane-extracellular matrix interaction
Title: Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
involved_in cardiac muscle tissue development	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart contraction	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within membrane organization	TAS Traceable Author Statement 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
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: gamma-sarcoglycan

Names: 35 kDa dystrophin-associated glycoprotein; 35DAG; sarcoglycan, gamma (35kD 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.

mRNA and Protein(s)

NM_011892.3 → NP_036022.1 gamma-sarcoglycan

See identical proteins and their annotated locations for NP_036022.1

Status: VALIDATED

Source sequence(s)

AC138718, AK132610

Consensus CDS

CCDS27181.1

UniProtKB/Swiss-Prot

P82348

UniProtKB/TrEMBL

Q9EQ83

Related

ENSMUSP00000077106.6, ENSMUST00000077954.13

Conserved Domains (1) summary

pfam04790
Location:25 → 278

Sarcoglycan_1; Sarcoglycan complex subunit protein

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

61456555..61495939 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036158597.1 → XP_036014490.1 gamma-sarcoglycan isoform X1

UniProtKB/Swiss-Prot

P82348

UniProtKB/TrEMBL

Q9EQ83

Related

ENSMUSP00000112576.2, ENSMUST00000121148.8

Conserved Domains (1) summary

pfam04790
Location:25 → 278

Sarcoglycan_1; Sarcoglycan complex subunit protein