Format

Send to:

Choose Destination

SGCG sarcoglycan gamma [ Homo sapiens (human) ]

Gene ID: 6445, updated on 29-Sep-2018

Summary

Official Symbol
SGCGprovided by HGNC
Official Full Name
sarcoglycan gammaprovided by HGNC
Primary source
HGNC:HGNC:10809
See related
Ensembl:ENSG00000102683 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; 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

Genomic context

See SGCG in Genome Data Viewer
Location:
13q12.12
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 13 NC_000013.11 (23160308..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 high mobility group AT-hook 1 pseudogene 6 Neighboring gene RNA, Ro-associated Y3 pseudogene 4 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 uncharacterized LOC107984585 Neighboring gene sacsin molecular chaperone 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

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

Pathways from BioSystems

  • 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...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC130048

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
heart contraction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
plasma membrane TAS
Traceable Author Statement
more info
PubMed 
sarcoglycan complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sarcolemma IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

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)

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_000231.2NP_000222.1  gamma-sarcoglycan

    See identical proteins and their annotated locations for NP_000222.1

    Status: REVIEWED

    Source sequence(s)
    AL356287, BC074778, DA897096, U34976
    Consensus CDS
    CCDS9299.1
    UniProtKB/Swiss-Prot
    Q13326
    Related
    ENSP00000218867.3, OTTHUMP00000018112, ENST00000218867.3, OTTHUMT00000044151
    Conserved Domains (1) summary
    pfam04790
    Location:30278
    Sarcoglycan_1; Sarcoglycan complex subunit protein

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_000013.11 Reference GRCh38.p12 Primary Assembly

    Range
    23160308..23325165
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006719861.3XP_006719924.1  gamma-sarcoglycan isoform X1

    Conserved Domains (1) summary
    pfam04790
    Location:48296
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  2. XM_024449397.1XP_024305165.1  gamma-sarcoglycan isoform X2

    Conserved Domains (1) summary
    pfam04790
    Location:25278
    Sarcoglycan_1; Sarcoglycan complex subunit protein
  3. XM_005266505.2XP_005266562.1  gamma-sarcoglycan isoform X2

    See identical proteins and their annotated locations for XP_005266562.1

    UniProtKB/Swiss-Prot
    Q13326
    Conserved Domains (1) summary
    pfam04790
    Location:25278
    Sarcoglycan_1; Sarcoglycan complex subunit protein
Support Center