Format

Send to:

Choose Destination

SGCG sarcoglycan gamma [ Homo sapiens (human) ]

Gene ID: 6445, updated on 22-Aug-2020

Summary

Official Symbol
SGCGprovided by HGNC
Official Full Name
sarcoglycan gammaprovided by HGNC
Primary source
HGNC:HGNC:10809
See related
Ensembl:ENSG00000102683 MIM:608896
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
109.20200815 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (23160508..23325162)
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 RNY3 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study of DSM-IV cannabis dependence.
GeneReviews: Not available
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
GeneReviews: Not available
Genome-wide association of bipolar disorder suggests an enrichment of replicable associations in regions near genes.
GeneReviews: Not available
Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.
GeneReviews: Not available
Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster.
GeneReviews: Not available
Severe autosomal recessive muscular dystrophy of childhood - North African type Compare labs

Pathways from PubChem

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
cardiac muscle tissue development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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_000231.3NP_000222.2  gamma-sarcoglycan isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157766, AL356287, BC074778, DA897096, U34976
    Consensus CDS
    CCDS9299.1
    Related
    ENSP00000218867.3, ENST00000218867.3
  2. NM_001378244.1NP_001365173.1  gamma-sarcoglycan isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL157766, AL160256, AL356287
  3. NM_001378245.1NP_001365174.1  gamma-sarcoglycan isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157766, AL160256, AL356287
  4. NM_001378246.1NP_001365175.1  gamma-sarcoglycan isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL157766, AL160256, AL356287

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    23160508..23325162
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center