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SGCA sarcoglycan alpha [ Homo sapiens (human) ]

Gene ID: 6442, updated on 3-Jun-2018
Official Symbol
SGCAprovided by HGNC
Official Full Name
sarcoglycan alphaprovided by HGNC
Primary source
HGNC:HGNC:10805
See related
Ensembl:ENSG00000108823 MIM:600119; Vega:OTTHUMG00000162024
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; 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
See SGCA in Genome Data Viewer
Location:
17q21.33
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (50165517..50175932)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (48243240..48253293)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene pyruvate dehydrogenase kinase 2 Neighboring gene sterile alpha motif domain containing 14 Neighboring gene protein phosphatase 1 regulatory subunit 9B Neighboring gene uncharacterized LOC105371818 Neighboring gene histone linker H1 domain, spermatid-specific 1 (pseudogene) Neighboring gene collagen type I alpha 1 chain Neighboring gene long intergenic non-protein coding RNA 1969

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystem (from WikiPathways)
    Arrhythmogenic Right Ventricular Cardiomyopathy, organism-specific biosystemAdapted from KEGG: http://www.genome.jp/kegg/pathway/hsa/hsa05412.html
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
  • Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
    Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Dilated cardiomyopathy, conserved biosystem (from KEGG)
    Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
  • Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
    Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
  • Viral myocarditis, organism-specific biosystem (from KEGG)
    Viral myocarditis, organism-specific biosystemMyocarditis is a cardiac disease associated with inflammation and injury of the myocardium. It results from various etiologies, both noninfectious and infectious, but coxsackievirus B3 (CVB3) is stil...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
muscle contraction TAS
Traceable Author Statement
more info
PubMed 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
response to denervation involved in regulation of muscle adaptation IEA
Inferred from Electronic Annotation
more info
 
skeletal muscle tissue regeneration IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell-cell junction IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dystrophin-associated glycoprotein complex TAS
Traceable Author Statement
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft IEA
Inferred from Electronic Annotation
more info
 
sarcoglycan complex IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
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)

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_000023.3NP_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)
    BC025702, DC306167, F25770
    Consensus CDS
    CCDS32679.1
    UniProtKB/Swiss-Prot
    Q16586
    UniProtKB/TrEMBL
    A0A0S2Z4Q1
    Related
    ENSP00000262018.3, OTTHUMP00000221051, ENST00000262018.7, OTTHUMT00000366841
    Conserved Domains (1) summary
    pfam05510
    Location:27347
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  2. NM_001135697.2NP_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)
    DC306167, F25770, L35853
    Consensus CDS
    CCDS45729.1
    UniProtKB/Swiss-Prot
    Q16586
    UniProtKB/TrEMBL
    A0A0S2Z4P8
    Related
    ENSP00000345522.6, OTTHUMP00000221052, ENST00000344627.10, OTTHUMT00000366842
    Conserved Domains (1) summary
    pfam05510
    Location:27195
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

RNA

  1. NR_135553.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK300710, DC306167, F25770, L34355
    Related
    ENST00000513821.5, OTTHUMT00000366843

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    50165517..50175932
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525121.2XP_011523423.2  alpha-sarcoglycan isoform X2

  2. XM_011525120.2XP_011523422.2  alpha-sarcoglycan isoform X1

  3. XM_011525122.2XP_011523424.2  alpha-sarcoglycan isoform X3

  4. XM_011525123.2XP_011523425.2  alpha-sarcoglycan isoform X4

  5. XM_024450873.1XP_024306641.1  alpha-sarcoglycan isoform X6

    Conserved Domains (1) summary
    pfam05510
    Location:1245
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  6. XM_011525124.2XP_011523426.1  alpha-sarcoglycan isoform X5

    Conserved Domains (1) summary
    pfam05510
    Location:3245
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

RNA

  1. XR_002958056.1 RNA Sequence

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