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    SGCG sarcoglycan gamma [ Homo sapiens (human) ]

    Gene ID: 6445, updated on 5-Mar-2024

    Summary

    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
    NEW
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    Genomic context

    See SGCG in Genome Data Viewer
    Location:
    13q12.12
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (23160508..23325162)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (22367302..22531974)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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
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    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_000231.3NP_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:25278
      Sarcoglycan_1; Sarcoglycan complex subunit protein
    2. NM_001378244.1NP_001365173.1  gamma-sarcoglycan isoform 2

      Status: REVIEWED

      Source sequence(s)
      AL157766, AL160256, AL356287
      UniProtKB/TrEMBL
      A8K3K5
      Conserved Domains (1) summary
      pfam04790
      Location:43296
      Sarcoglycan_1; Sarcoglycan complex subunit protein
    3. NM_001378245.1NP_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:25278
      Sarcoglycan_1; Sarcoglycan complex subunit protein
    4. NM_001378246.1NP_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:25278
      Sarcoglycan_1; Sarcoglycan complex subunit protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_047430542.1XP_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_054374861.1XP_054230836.1  gamma-sarcoglycan isoform X1