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SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) [ Homo sapiens (human) ]

Gene ID: 6445, updated on 19-Jul-2014
Official Symbol
SGCGprovided by HGNC
Official Full Name
sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)provided by HGNC
Primary source
HGNC:10809
Locus tag
RP11-40O20.1
See related
Ensembl:ENSG00000102683; HPRD:07039; MIM:608896; Vega:OTTHUMG00000016563
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; TYPE; DAGA4; DMDA1; LGMD2C; SCARMD2
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]
See SGCG in Epigenomics, MapViewer
Location:
13q12
Exon count:
10
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 13 NC_000013.11 (23160542..23325165)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (23755060..23899304)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae) pseudogene 2 Neighboring gene high mobility group AT-hook 1 pseudogene 6 Neighboring gene RNA, U6 small nuclear 58, pseudogene Neighboring gene TatD DNase domain containing 2 pseudogene 3 Neighboring gene SDA1 domain containing 1 pseudogene 4 Neighboring gene sacsin molecular chaperone Neighboring gene ribosomal protein, large, P1 pseudogene 13 Neighboring gene SACS antisense RNA 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of DSM-IV cannabis dependence.
NHGRI GWA Catalog
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
NHGRI GWA Catalog
Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
NHGRI GWA Catalog
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
NHGRI GWA Catalog
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
NHGRI GWA Catalog
  • 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

Clone Names

  • MGC130048

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
sarcoglycan complex IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gamma-sarcoglycan
Names
gamma-sarcoglycan
35DAG
gamma-SG
gamma sarcoglycan
35kD dystrophin-associated glycoprotein
35 kDa 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_008759.1 

    Range
    5001..149245
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_207

mRNA and Protein(s)

  1. NM_000231.2NP_000222.1  gamma-sarcoglycan

    See proteins identical to NP_000222.1

    Status: REVIEWED

    Source sequence(s)
    AL356287, BC074778, DA897096, U34976
    Consensus CDS
    CCDS9299.1
    UniProtKB/Swiss-Prot
    Q13326
    Related
    ENSP00000218867, OTTHUMP00000018112, ENST00000218867, OTTHUMT00000044151
    Conserved Domains (1) summary
    pfam04790
    Location:23284
    Blast Score: 955
    Sarcoglycan_1; Sarcoglycan complex subunit protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000013.11 

    Range
    23160542..23325165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719861.1XP_006719924.1  

    Conserved Domains (1) summary
    pfam04790
    Location:41302
    Blast Score: 956
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  2. XM_005266505.1XP_005266562.1  

    See proteins identical to XP_005266562.1

    UniProtKB/Swiss-Prot
    Q13326
    Conserved Domains (1) summary
    pfam04790
    Location:23284
    Blast Score: 955
    Sarcoglycan_1; Sarcoglycan complex subunit protein

Alternate HuRef

Genomic

  1. AC_000145.1 

    Range
    4568485..4711933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 

    Range
    23723673..23867900
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)