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Aliases for SGCG Gene

Aliases for SGCG Gene

  • Sarcoglycan Gamma 2 3 5
  • Sarcoglycan, Gamma (35kDa Dystrophin-Associated Glycoprotein) 2 3
  • 35 KDa Dystrophin-Associated Glycoprotein 3 4
  • 35kD Dystrophin-Associated Glycoprotein 2 3
  • Gamma-SG 3 4
  • 35DAG 3 4
  • Limb Girdle Muscular Dystrophy 2C (Duchenne-Like Muscular Dystrophy, Autosomal Recessive) 2
  • Maghrebian Myopathy (Autosomal Recessive) 2
  • Gamma Sarcoglycan 2
  • Gamma-Sarcoglycan 3
  • SCARMD2 3
  • LGMD2C 3
  • DAGA4 3
  • DMDA1 3
  • DMDA 3
  • SCG3 3
  • MAM 3
  • A4 3

External Ids for SGCG Gene

Previous HGNC Symbols for SGCG Gene

  • DMDA1
  • MAM
  • LGMD2C

Previous GeneCards Identifiers for SGCG Gene

  • GC13P021735
  • GC13P017735
  • GC13P022685
  • GC13P021553
  • GC13P022653
  • GC13P023755
  • GC13P004568

Summaries for SGCG Gene

Entrez Gene Summary for SGCG Gene

  • 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]

GeneCards Summary for SGCG Gene

SGCG (Sarcoglycan Gamma) is a Protein Coding gene. Diseases associated with SGCG include Muscular Dystrophy, Limb-Girdle, Type 2C and Limb-Girdle Muscular Dystrophy. Among its related pathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM). An important paralog of this gene is SGCZ.

UniProtKB/Swiss-Prot for SGCG Gene

  • Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

Gene Wiki entry for SGCG Gene

Additional gene information for SGCG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGCG Gene

Genomics for SGCG Gene

Regulatory Elements for SGCG Gene

Enhancers for SGCG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H023212 0.6 ENCODE 15.9 +52.4 52411 0 SMARCE1 DPF2 ZNF217 GATA3 CTBP1 TARDBP KLF9 CUX1 SGCG RNU6-58P PIR56522
GH13H023159 1.1 Ensembl ENCODE 8.3 -0.5 -481 1 ATF1 SIN3A ZNF76 KLF17 GLIS2 EGR1 ZNF366 ZSCAN5C EGR2 SP3 SGCG TATDN2P3 RNY3P4 GC13M023153
GH13H023020 0.7 ENCODE 9.8 -140.1 -140100 0 CTCF ZNF654 RFX1 HLF TRIM22 MAX ELF1 REST RAD21 FOXA1 RPL7AP73 ENSG00000253094 SGCG LOC105370111 LOC105370112
GH13H023069 0.4 ENCODE 10.4 -90.8 -90776 0 FOS ZNF584 SGCG RPL7AP73 ENSG00000253094 LOC105370112 LOC105370111
GH13H023290 0.2 ENCODE 10.5 +129.7 129681 0 SGCG SDAD1P4 RPLP1P13
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SGCG on UCSC Golden Path with GeneCards custom track

Genomic Location for SGCG Gene

Chromosome:
13
Start:
23,160,506 bp from pter
End:
23,325,165 bp from pter
Size:
164,660 bases
Orientation:
Plus strand

Genomic View for SGCG Gene

Genes around SGCG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SGCG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SGCG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGCG Gene

Proteins for SGCG Gene

  • Protein details for SGCG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13326-SGCG_HUMAN
    Recommended name:
    Gamma-sarcoglycan
    Protein Accession:
    Q13326
    Secondary Accessions:
    • Q32M32
    • Q5T9J6

    Protein attributes for SGCG Gene

    Size:
    291 amino acids
    Molecular mass:
    32379 Da
    Quaternary structure:
    • Interacts with the syntrophin SNTA1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity). Interacts with FLNC.

neXtProt entry for SGCG Gene

Post-translational modifications for SGCG Gene

  • Glycosylation at Asn110
  • Modification sites at PhosphoSitePlus

Other Protein References for SGCG Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SGCG Gene

Domains & Families for SGCG Gene

Gene Families for SGCG Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for SGCG Gene

Suggested Antigen Peptide Sequences for SGCG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q13326

UniProtKB/Swiss-Prot:

SGCG_HUMAN :
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.
Family:
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.
genes like me logo Genes that share domains with SGCG: view

Function for SGCG Gene

Molecular function for SGCG Gene

GENATLAS Biochemistry:
sarcoglycan gamma,dystrophin associated protein A4 (35kDa),expressed in skeletal and cardiac muscle,associating with other sarcoglycans and in a stoichiometrically equal complex,stabilizing the link between dystroglycan and dystrophin/utrophin
UniProtKB/Swiss-Prot Function:
Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix.

Phenotypes From GWAS Catalog for SGCG Gene

Gene Ontology (GO) - Molecular Function for SGCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10629222
genes like me logo Genes that share ontologies with SGCG: view
genes like me logo Genes that share phenotypes with SGCG: view

Human Phenotype Ontology for SGCG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SGCG Gene

MGI Knock Outs for SGCG:

Animal Model Products

CRISPR Products

miRNA for SGCG Gene

miRTarBase miRNAs that target SGCG

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SGCG
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SGCG Gene

Localization for SGCG Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGCG Gene

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SGCG gene
Compartment Confidence
plasma membrane 5
nucleus 5
cytoskeleton 4
extracellular 2
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SGCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS 8641426
GO:0016011 dystroglycan complex IEA --
genes like me logo Genes that share ontologies with SGCG: view

Pathways & Interactions for SGCG Gene

genes like me logo Genes that share pathways with SGCG: view

Gene Ontology (GO) - Biological Process for SGCG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development TAS 8641426
GO:0048738 cardiac muscle tissue development IBA --
GO:0055001 muscle cell development IBA --
GO:0060047 heart contraction IBA --
GO:0061024 membrane organization IBA --
genes like me logo Genes that share ontologies with SGCG: view

No data available for SIGNOR curated interactions for SGCG Gene

Drugs & Compounds for SGCG Gene

No Compound Related Data Available

Transcripts for SGCG Gene

mRNA/cDNA for SGCG Gene

(3) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SGCG Gene

Sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for SGCG
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for SGCG Gene

No ASD Table

Relevant External Links for SGCG Gene

GeneLoc Exon Structure for
SGCG
ECgene alternative splicing isoforms for
SGCG

Expression for SGCG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SGCG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SGCG Gene

This gene is overexpressed in Heart - Left Ventricle (x19.7), Muscle - Skeletal (x12.4), and Heart - Atrial Appendage (x11.2).

Protein differential expression in normal tissues from HIPED for SGCG Gene

This gene is overexpressed in Heart (50.2) and Tonsil (10.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for SGCG Gene



Protein tissue co-expression partners for SGCG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SGCG Gene:

SGCG

SOURCE GeneReport for Unigene cluster for SGCG Gene:

Hs.37167

mRNA Expression by UniProt/SwissProt for SGCG Gene:

Q13326-SGCG_HUMAN
Tissue specificity: Expressed in skeletal and heart muscle.

Evidence on tissue expression from TISSUES for SGCG Gene

  • Muscle(3.3)
  • Heart(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SGCG Gene

Germ Layers:
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with SGCG: view

Primer Products

Orthologs for SGCG Gene

This gene was present in the common ancestor of animals.

Orthologs for SGCG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGCG 33 34
  • 99.43 (n)
dog
(Canis familiaris)
Mammalia SGCG 33 34
  • 89.46 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SGCG 34
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGCG 34
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgcg 33 16 34
  • 82.59 (n)
cow
(Bos Taurus)
Mammalia SGCG 33 34
  • 82.25 (n)
rat
(Rattus norvegicus)
Mammalia Sgcg 33
  • 81.67 (n)
chicken
(Gallus gallus)
Aves SGCG 33 34
  • 77.59 (n)
lizard
(Anolis carolinensis)
Reptilia SGCG 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgcg 33
  • 73.79 (n)
Str.15170 33
zebrafish
(Danio rerio)
Actinopterygii sgcg 33 34 34
  • 62.92 (n)
fruit fly
(Drosophila melanogaster)
Insecta Scgdgr 35
  • 38 (a)
Scgdelta 34
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sgn-1 35 34
  • 35 (a)
Species where no ortholog for SGCG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SGCG Gene

ENSEMBL:
Gene Tree for SGCG (if available)
TreeFam:
Gene Tree for SGCG (if available)

Paralogs for SGCG Gene

Paralogs for SGCG Gene

(2) SIMAP similar genes for SGCG Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SGCG: view

Variants for SGCG Gene

Sequence variations from dbSNP and Humsavar for SGCG Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs104894422 Pathogenic, Limb-girdle muscular dystrophy 2C (LGMD2C) [MIM:253700] 23,324,513(+) CACGT(A/G)CCAGG upstream-variant-2KB, reference, missense
VAR_010430 Limb-girdle muscular dystrophy 2C (LGMD2C) [MIM:253700]
VAR_012202 Limb-girdle muscular dystrophy 2C (LGMD2C) [MIM:253700]
rs104894423 Pathogenic 23,324,452(+) TCTAC(A/G)AAATC upstream-variant-2KB, reference, missense
rs200206447 Pathogenic 23,250,719(+) GTCGG(C/G/T)GAGTC splice-donor-variant

Structural Variations from Database of Genomic Variants (DGV) for SGCG Gene

Variant ID Type Subtype PubMed ID
dgv1615n100 CNV gain 25217958
dgv3084n54 CNV gain 21841781
esv22115 CNV loss 19812545
esv2422437 CNV duplication 17116639
esv2422502 CNV duplication 17116639
esv2751135 CNV gain 17911159
esv2751136 CNV loss 17911159
esv3302957 CNV tandem duplication 20981092
esv3580576 CNV loss 25503493
esv3580577 CNV loss 25503493
esv3631513 CNV gain 21293372
esv3631514 CNV loss 21293372
esv3631515 CNV loss 21293372
esv3631516 CNV gain 21293372
esv3631517 CNV loss 21293372
esv3631518 CNV loss 21293372
esv3892311 CNV gain 25118596
esv5325 OTHER complex 18987735
nsv1037408 CNV loss 25217958
nsv1040787 CNV gain 25217958
nsv1046471 CNV gain 25217958
nsv1046767 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1113548 CNV deletion 24896259
nsv1120008 CNV deletion 24896259
nsv1120009 CNV deletion 24896259
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv455837 CNV gain 19166990
nsv455838 CNV gain 19166990
nsv471123 CNV loss 18288195
nsv517054 CNV loss 19592680
nsv520725 CNV loss 19592680
nsv525965 CNV gain 19592680
nsv561288 CNV gain 21841781
nsv561292 CNV loss 21841781
nsv561334 CNV gain 21841781

Variation tolerance for SGCG Gene

Residual Variation Intolerance Score: 71% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.57% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SGCG Gene

Human Gene Mutation Database (HGMD)
SGCG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SGCG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGCG Gene

Disorders for SGCG Gene

MalaCards: The human disease database

(11) MalaCards diseases for SGCG Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, limb-girdle, type 2c
  • autosomal recessive limb-girdle muscular dystrophy type 2c
limb-girdle muscular dystrophy
  • lgmd
muscular dystrophy
  • muscular dystrophies
autosomal recessive limb-girdle muscular dystrophy type 2f
  • delta-sarcoglycanopathy
sarcoglycanopathies
- elite association - COSMIC cancer census association via MalaCards
Search SGCG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SGCG_HUMAN
  • Limb-girdle muscular dystrophy 2C (LGMD2C) [MIM:253700]: An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining. {ECO:0000269 PubMed:10714584, ECO:0000269 PubMed:8968757}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for SGCG

Genetic Association Database (GAD)
SGCG
Human Genome Epidemiology (HuGE) Navigator
SGCG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SGCG
genes like me logo Genes that share disorders with SGCG: view

No data available for Genatlas for SGCG Gene

Publications for SGCG Gene

  1. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. (PMID: 8968757) Piccolo F … Kaplan JC (Human molecular genetics 1996) 2 3 4 22 60
  2. Genome-wide significant association between alcohol dependence and a variant in the ADH gene cluster. (PMID: 22004471) Frank J … Rietschel M (Addiction biology 2012) 3 45 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Low incidence of limb-girdle muscular dystrophy type 2C revealed by a mutation study in Japanese patients clinically diagnosed with DMD. (PMID: 20350330) Okizuka Y … Matsuo M (BMC medical genetics 2010) 3 22 60
  5. Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. (PMID: 19770540) Khadilkar SV … Chong B (Neurology India 2009) 3 22 60

Products for SGCG Gene

Sources for SGCG Gene

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