Delta-sarcoglycan

Delta-sarcoglycan is a protein that in humans is encoded by the SGCD gene.^[4][5][6][7]

SGCD
Identifiers
Aliases	SGCD, 35DAG, CMD1L, DAGD, SG-delta, SGCDP, SGD, sarcoglycan delta, LGMDR6
External IDs	OMIM: 601411; MGI: 1346525; HomoloGene: 285; GeneCards: SGCD; OMA:SGCD - orthologs
Gene location (Human) Chr. Chromosome 5 (human)[1] Band 5q33.2-q33.3 Start 155,870,344 bp[1] End 156,767,788 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in myocardium of left ventricle Skeletal muscle tissue of rectus abdominis right ventricle Skeletal muscle tissue of biceps brachii vastus lateralis muscle cardiac muscle tissue of right atrium deltoid muscle saphenous vein glutes tibialis anterior muscle n/a More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component cytoplasm integral component of membrane dystroglycan complex plasma membrane sarcolemma dystrophin-associated glycoprotein complex cytoskeleton membrane sarcoglycan complex sarcoplasmic reticulum Biological process muscle organ development membrane organization heart contraction muscle cell development cardiac muscle tissue development heart process cell death calcium-mediated signaling calcium ion homeostasis cardiac muscle contraction coronary vasculature morphogenesis cardiac muscle cell contraction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6444 24052 Ensembl ENSG00000170624 n/a UniProt Q92629 P82347 RefSeq (mRNA) NM_000337 NM_001128209 NM_172244 NM_011891 RefSeq (protein) NP_000328 NP_001121681 NP_758447 NP_036021 Location (UCSC) Chr 5: 155.87 – 156.77 Mb n/a PubMed search [2] [3]
Wikidata
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Function

The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. The mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed.^[7]

In melanocytic cells SGCD gene expression may be regulated by MITF.^[8]

Interactions

SGCD has been shown to interact with FLNC.^[9][10]