SGCG

Protein identityUniProt · HPA

UniProt accession

Q13326

Gene

SGCG

Ensembl

ENSG00000102683

Chromosome

13

Canonical length

291 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted membrane proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

291 residues, UniProt reviewed canonical sequence.

>Q13326|SGCG
     1  MVREQYTTAT EGICIERPEN QYVYKIGIYG WRKRCLYLFV LLLLIILVVN LALTIWILKV
    61  MWFSPAGMGH LCVTKDGLRL EGESEFLFPL YAKEIHSRVD SSLLLQSTQN VTVNARNSEG
   121  EVTGRLKVGP KMVEVQNQQF QINSNDGKPL FTVDEKEVVV GTDKLRVTGP EGALFEHSVE
   181  TPLVRADPFQ DLRLESPTRS LSMDAPRGVH IQAHAGKIEA LSQMDILFHS SDGMLVLDAE
   241  TVCLPKLVQG TWGPSGSSQS LYEICVCPDG KLYLSVAGVS TTCQEHNHIC L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGCG can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

148 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGCG.

Disease | AllUniProt

Conditions SGCG is implicated in, by any mechanism.

• Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) MIM:253700

Disease | GeneticClinVar

113 pathogenic / likely-pathogenic of 613 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive limb-girdle muscular dystrophy type 2C
• Autosomal recessive limb-girdle muscular dystrophy
• Inborn genetic diseases
• SGCG-related congenital myopathy
• SGCG-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.05

gnomAD pLI

0

gnomAD missense Z

-0.13

DepMap mean gene effect

0.01

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle tissue development
• gene expression
• heart contraction
• muscle organ development

Cellular components

• cytoskeleton
• endoplasmic reticulum membrane
• plasma membrane
• sarcoglycan complex
• sarcolemma

Protein domainsUniProt · Pfam · InterPro

• Sarcoglycan complex subunit protein
• Sarcoglycan gamma/delta/zeta
• Sarcoglycan complex subunit protein

KeywordsUniProt

• Cell membrane
• Cytoplasm
• Cytoskeleton
• Disulfide bond
• Glycoprotein
• Limb-girdle muscular dystrophy
• Membrane
• Signal-anchor
• Transmembrane
• Transmembrane helix

InteractionsUniProt · HPA

Protein binding partners of SGCG in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• FLNC
• ACO1
• DNAJB6
• DYSF