SGCA

Protein identityUniProt · HPA

UniProt accession

Q16586

Gene

SGCA

Ensembl

ENSG00000108823

Chromosome

17

Canonical length

387 aa

Protein class

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

Secretome location

Intracellular and membrane

OverviewNCBI Gene

This gene encodes a component of the dystrophin-glycoprotein complex (DGC), which is critical to the stability of muscle fiber membranes and to the linking of the actin cytoskeleton to the extracellular matrix. Its expression is thought to be restricted to striated muscle. Mutations in this gene result in type 2D autosomal recessive limb-girdle muscular dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Canonical amino-acid sequenceUniProt

387 residues, UniProt reviewed canonical sequence.

>Q16586|SGCA
     1  MAETLFWTPL LVVLLAGLGD TEAQQTTLHP LVGRVFVHTL DHETFLSLPE HVAVPPAVHI
    61  TYHAHLQGHP DLPRWLRYTQ RSPHHPGFLY GSATPEDRGL QVIEVTAYNR DSFDTTRQRL
   121  VLEIGDPEGP LLPYQAEFLV RSHDAEEVLP STPASRFLSA LGGLWEPGEL QLLNVTSALD
   181  RGGRVPLPIE GRKEGVYIKV GSASPFSTCL KMVASPDSHA RCAQGQPPLL SCYDTLAPHF
   241  RVDWCNVTLV DKSVPEPADE VPTPGDGILE HDPFFCPPTE APDRDFLVDA LVTLLVPLLV
   301  ALLLTLLLAY VMCCRREGRL KRDLATSDIQ MVHHCTIHGN TEELRQMAAS REVPRPLSTL
   361  PMFNVHTGER LPPRVDSAQV PLILDQH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGCA 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)

0.42

Highest tissue expression

436 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGCA.

Disease | AllUniProt

Conditions SGCA is implicated in, by any mechanism.

• Muscular dystrophy, limb-girdle, autosomal recessive 3 (LGMDR3) MIM:608099

Disease | GeneticClinVar

197 pathogenic / likely-pathogenic of 848 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Autosomal recessive limb-girdle muscular dystrophy type 2D
• Autosomal recessive limb-girdle muscular dystrophy
• Abnormality of the musculature
• Sarcoglycanopathy
• SGCA-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)

0.79

gnomAD pLI

0

gnomAD missense Z

0.68

DepMap mean gene effect

-0.24

DepMap dependency class

selective

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

• muscle contraction
• muscle organ development

Molecular functions

• calcium ion binding

Cellular components

• cell-cell junction
• cytoskeleton
• dystrophin-associated glycoprotein complex
• endoplasmic reticulum membrane
• Golgi membrane
• membrane raft
• plasma membrane
• sarcoglycan complex
• sarcolemma

Protein domainsUniProt · Pfam · InterPro

• Dystroglycan-type cadherin-like
• Sarcoglycan alpha/epsilon
• Cadherin-like superfamily
• Sarcoglycan alpha/epsilon, N-terminal domain
• Sarcoglycan alpha/epsilon second domain
• Sarcoglycan alpha/epsilon N-terminal domain
• Sarcoglycan alpha/epsilon second domain

KeywordsUniProt

• Cell membrane
• Cytoplasm
• Cytoskeleton
• Glycoprotein
• Limb-girdle muscular dystrophy
• Membrane
• Phosphoprotein
• Signal
• Transmembrane
• Transmembrane helix