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    SGCA sarcoglycan alpha [ Homo sapiens (human) ]

    Gene ID: 6442, updated on 1-Mar-2024

    Summary

    Official Symbol
    SGCAprovided by HGNC
    Official Full Name
    sarcoglycan alphaprovided by HGNC
    Primary source
    HGNC:HGNC:10805
    See related
    Ensembl:ENSG00000108823 MIM:600119; AllianceGenome:HGNC:10805
    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
    ADL; DAG2; 50DAG; DMDA2; LGMD2D; LGMDR3; SCARMD1; adhalin
    Summary
    This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
    Expression
    Biased expression in heart (RPKM 27.1), esophagus (RPKM 7.1) and 11 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SGCA in Genome Data Viewer
    Location:
    17q21.33
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (50166005..50175928)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (51033073..51042985)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48243366..48253289)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene pyruvate dehydrogenase kinase 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48189161-48189846 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48189847-48190532 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48191458-48192053 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48193223-48193766 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8680 Neighboring gene sterile alpha motif domain containing 14 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8682 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48209774-48210516 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48210517-48211258 Neighboring gene protein phosphatase 1 regulatory subunit 9B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48223652-48224322 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48224323-48224991 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12379 Neighboring gene uncharacterized LOC124904025 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8683 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8684 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8686 Neighboring gene Sharpr-MPRA regulatory region 5931 Neighboring gene CRISPRi-validated cis-regulatory element chr17.3603 Neighboring gene uncharacterized LOC105371818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8687 Neighboring gene Sharpr-MPRA regulatory region 13843 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48240960-48241460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48252214-48252815 Neighboring gene Sharpr-MPRA regulatory region 9980 Neighboring gene Sharpr-MPRA regulatory region 10059 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48259283-48260178 Neighboring gene H1.9 linker histone, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48261754-48262744 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48266067-48266622 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48266623-48267176 Neighboring gene collagen type I alpha 1 chain Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:48273702-48274901 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8689 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:48283085-48283586 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:48287195-48287760 Neighboring gene long intergenic non-protein coding RNA 1969

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cell-cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
     
    part_of dystrophin-associated glycoprotein complex TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in membrane raft IEA
    Inferred from Electronic Annotation
    more info
     
    part_of sarcoglycan complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    alpha-sarcoglycan
    Names
    50 kDa dystrophin-associated glycoprotein
    50kD DAG
    alpha-SG
    dystroglycan-2
    limb girdle muscular dystrophy 2D
    sarcoglycan, alpha (50kDa 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_008889.1 RefSeqGene

      Range
      5001..14928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_203

    mRNA and Protein(s)

    1. NM_000023.4NP_000014.1  alpha-sarcoglycan isoform 1 precursor

      See identical proteins and their annotated locations for NP_000014.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC015909
      Consensus CDS
      CCDS32679.1
      UniProtKB/Swiss-Prot
      A6NEB8, A8K3K7, Q13710, Q13712, Q16586
      UniProtKB/TrEMBL
      A0A0S2Z4Q1, A0A804HKR7
      Related
      ENSP00000262018.3, ENST00000262018.8
      Conserved Domains (1) summary
      pfam05510
      Location:27347
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    2. NM_001135697.3NP_001129169.1  alpha-sarcoglycan isoform 2 precursor

      See identical proteins and their annotated locations for NP_001129169.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two alternate in-frame exons in the central coding region, compared to variant 1. The resulting isoform (2) lacks a segment of the sarcoglycan domain including the transmembrane domain, compared to isoform 1.
      Source sequence(s)
      AC015909
      Consensus CDS
      CCDS45729.1
      UniProtKB/TrEMBL
      A0A0S2Z4P8
      Related
      ENSP00000345522.6, ENST00000344627.10
      Conserved Domains (1) summary
      pfam05510
      Location:27195
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    RNA

    1. NR_135553.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC015909
      Related
      ENST00000513821.5

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      50166005..50175928
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      51033073..51042985
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)