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    SGCG sarcoglycan gamma [ Homo sapiens (human) ]

    Gene ID: 6445, updated on 9-Dec-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
    mouse all
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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
    • 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
    		Compare labs

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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