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SGCG sarcoglycan gamma [ Homo sapiens (human) ]

Gene ID: 6445, updated on 2-Nov-2024

Summary

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Official Symbol
SGCGprovided by HGNC
Official Full Name
sarcoglycan gammaprovided by HGNC
Primary source
HGNC:HGNC:10809
See related
Ensembl:ENSG00000102683 MIM:608896; AllianceGenome:HGNC:10809
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
A4; MAM; DMDA; SCG3; 35DAG; DAGA4; DMDA1; LGMD2C; LGMDR5; SCARMD2; gamma-SG
Summary
This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]
Expression
Biased expression in heart (RPKM 31.0), fat (RPKM 8.6) and 2 other tissues See more
Orthologs
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Genomic context

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See SGCG in Genome Data Viewer
Location:
13q12.12
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (23160508..23325162)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (22367302..22531974)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (23734647..23899301)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_32684 Neighboring gene uncharacterized LOC124903134 Neighboring gene high mobility group AT-hook 1 pseudogene 6 Neighboring gene RNY3 pseudogene 4 Neighboring gene long intergenic non-protein coding RNA 362 Neighboring gene RNA, U6 small nuclear 58, pseudogene Neighboring gene TatD DNase domain containing 2 pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7449 Neighboring gene SDA1 domain containing 1 pseudogene 4 Neighboring gene uncharacterized LOC107984585 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7450 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7451 Neighboring gene sacsin molecular chaperone Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5171 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5172 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7452 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7453 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7454 Neighboring gene ribosomal protein lateral stalk subunit P1 pseudogene 13 Neighboring gene SACS antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. McNally EM, et al. Am J Hum Genet, 1996 Nov. PMID 8900232, Free PMC Article
  2. Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. Khadilkar SV, et al. Neurol India, 2009 Jul-Aug. PMID 19770540
  3. C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. Spengos K, et al. Eur J Neurol, 2010 Jun 1. PMID 20345928
  4. Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. Okizuka Y, et al. BMC Med Genet, 2010 Mar 30. PMID 20350330, Free PMC Article
  5. A novel mutation in two families with limb-girdle muscular dystrophy type 2C. Duncan DR, et al. Neurology, 2006 Jul 11. PMID 16832103

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs.
    Title: Disruption of MAM integrity in mutant FUS oligodendroglial progenitors from hiPSCs.
  2. Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
    Title: Homozygous Inversion on Chromosome 13 Involving SGCG Detected by Short Read Whole Genome Sequencing in a Patient Suffering from Limb-Girdle Muscular Dystrophy.
  3. SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program.
    Title: SGCG rs679482 Associates With Weight Loss Success in Response to an Intensively Supervised Outpatient Program.
  4. Expression, purification, and structural analysis of the full-length human integral membrane protein gamma-sarcoglycan.
    Title: Expression, purification, and structural analysis of the full-length human integral membrane protein γ-sarcoglycan.
  5. This study showed that fifteen families were shown to carry SGCG variants in patient with early onset severe muscular dystrophy.
    Title: γ-sarcoglycan and dystrophin mutation spectrum in an Algerian cohort.
  6. FADH2-dependent monooxygenase (SgcE6 and SgcC) that catalyzes the hydroxylation of a PCP-tethered substrate
    Title: Crystal Structures of SgcE6 and SgcC, the Two-Component Monooxygenase That Catalyzes Hydroxylation of a Carrier Protein-Tethered Substrate during the Biosynthesis of the Enediyne Antitumor Antibiotic C-1027 in Streptomyces globisporus.
  7. 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.
  8. A report of two siblings with severe childhood onset limb-girdle muscular dystrophy type 2C supports the theory that the mutation G787A in the SGCG gene is a founder mutation.
    Title: Puerto Rican founder mutation G787A in the SGCG gene: a case report of 2 siblings with LGMD 2C.
  9. Molecular epidemiologic methods were used to calculate the frequency of heterozygotes for this SGCG mutation in Moroccan newborns and to estimate the prevalence of LGMD2C in the Moroccan population.
    Title: Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.
  10. Data suggest that an SNP in an intron of SGCG (rs9552911) is associated with type 2 diabetes [Genome-Wide Association Study in Sikh populations in India & Meta-Analysis]
    Title: Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
Submit: New GeneRIF Correction See all GeneRIFs (20)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive limb-girdle muscular dystrophy type 2C
MedGen: C0410173 OMIM: 253700 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study of DSM-IV cannabis dependence.
EBI GWAS Catalog
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
EBI GWAS Catalog
Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
EBI GWAS Catalog
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
EBI GWAS Catalog
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC130048

Gene Ontology Provided by GOA

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
  
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
  
involved_in heart contraction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in muscle organ development 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
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 
part_of sarcoglycan complex IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
gamma-sarcoglycan
Names
35 kDa dystrophin-associated glycoprotein
35kD dystrophin-associated glycoprotein
sarcoglycan, gamma (35kDa 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.

Genomic

  1. NG_008759.1 RefSeqGene

    Range
    5001..149245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_207

mRNA and Protein(s)

  1. NM_000231.3 → NP_000222.2  gamma-sarcoglycan isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157766, AL356287, BC074778, DA897096, U34976
    Consensus CDS
    CCDS9299.1
    UniProtKB/Swiss-Prot
    Q13326, Q32M32, Q5T9J6
    UniProtKB/TrEMBL
    A8K3K5
    Related
    ENSP00000218867.3, ENST00000218867.4
    Conserved Domains (1) summary
    pfam04790
    Location:25 → 278
    Sarcoglycan_1; Sarcoglycan complex subunit protein

  2. NM_001378244.1 → NP_001365173.1  gamma-sarcoglycan isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157766, AL160256, AL356287
    UniProtKB/TrEMBL
    A8K3K5
    Conserved Domains (1) summary
    pfam04790
    Location:43 → 296
    Sarcoglycan_1; Sarcoglycan complex subunit protein

  3. NM_001378245.1 → NP_001365174.1  gamma-sarcoglycan isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157766, AL160256, AL356287
    Consensus CDS
    CCDS9299.1
    UniProtKB/Swiss-Prot
    Q13326, Q32M32, Q5T9J6
    UniProtKB/TrEMBL
    A8K3K5
    Conserved Domains (1) summary
    pfam04790
    Location:25 → 278
    Sarcoglycan_1; Sarcoglycan complex subunit protein

  4. NM_001378246.1 → NP_001365175.1  gamma-sarcoglycan isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157766, AL160256, AL356287
    Consensus CDS
    CCDS9299.1
    UniProtKB/Swiss-Prot
    Q13326, Q32M32, Q5T9J6
    UniProtKB/TrEMBL
    A8K3K5
    Conserved Domains (1) summary
    pfam04790
    Location:25 → 278
    Sarcoglycan_1; Sarcoglycan complex subunit protein

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    23160508..23325162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430542.1 → XP_047286498.1  gamma-sarcoglycan isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    22367302..22531974
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374861.1 → XP_054230836.1  gamma-sarcoglycan isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q13326.4 GenPept UniProtKB/Swiss-Prot:Q13326

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