Human Gene SGCG (ENST00000218867.4) from GENCODE V44
Description: Homo sapiens sarcoglycan gamma (SGCG), transcript variant 4, mRNA. (from RefSeq NM_001378246) RefSeq Summary (NM_000231): 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]. Gencode Transcript: ENST00000218867.4 Gencode Gene: ENSG00000102683.8 Transcript (Including UTRs) Position: hg38 chr13:23,180,979-23,325,162 Size: 144,184 Total Exon Count: 8 Strand: + Coding Region Position: hg38 chr13:23,203,695-23,324,541 Size: 120,847 Coding Exon Count: 7
ID:SGCG_HUMAN DESCRIPTION: RecName: Full=Gamma-sarcoglycan; Short=Gamma-SG; AltName: Full=35 kDa dystrophin-associated glycoprotein; Short=35DAG; 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. SUBUNIT: 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. INTERACTION: P21399:ACO1; NbExp=2; IntAct=EBI-5357343, EBI-2847111; O75190:DNAJB6; NbExp=2; IntAct=EBI-5357343, EBI-1053164; O75923:DYSF; NbExp=3; IntAct=EBI-5357343, EBI-2799016; SUBCELLULAR LOCATION: Cell membrane, sarcolemma; Single-pass type II membrane protein (By similarity). Cytoplasm, cytoskeleton (By similarity). TISSUE SPECIFICITY: Expressed in skeletal and heart muscle. DISEASE: Defects in SGCG are the cause of limb-girdle muscular dystrophy type 2C (LGMD2C) [MIM:253700]. LGMD2C is characterized by progressive muscle wasting from early childhood. SIMILARITY: Belongs to the sarcoglycan beta/delta/gamma/zeta family. WEB RESOURCE: Name=Leiden Muscular Dystrophy pages; Note=SGCG mutations in LGMD2C; URL="http://www.dmd.nl/sgcg_home.html"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCG";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF04790 - Sarcoglycan complex subunit protein
ModBase Predicted Comparative 3D Structure on Q13326
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
