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SGCA sarcoglycan alpha [ Homo sapiens (human) ]

Gene ID: 6442, updated on 5-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
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Genomic context

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)

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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_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)