Seroatlas · Human Serome Atlas

SGCE

Epsilon-sarcoglycan

Also known as: DYT11, SGCE_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
O43556
Gene
SGCE
Ensembl
ENSG00000127990
Chromosome
7
Canonical length
437 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location
Nucleoplasm,Golgi apparatus,Vesicles,Plasma membrane

OverviewNCBI Gene

This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]

Canonical amino-acid sequenceUniProt

437 residues, UniProt reviewed canonical sequence.

>O43556|SGCE
     1  MQLPRWWELG DPCAWTGQGR GTRRMSPATT GTFLLTVYSI FSKVHSDRNV YPSAGVLFVH
    61  VLEREYFKGE FPPYPKPGEI SNDPITFNTN LMGYPDRPGW LRYIQRTPYS DGVLYGSPTA
   121  ENVGKPTIIE ITAYNRRTFE TARHNLIINI MSAEDFPLPY QAEFFIKNMN VEEMLASEVL
   181  GDFLGAVKNV WQPERLNAIN ITSALDRGGR VPLPINDLKE GVYVMVGADV PFSSCLREVE
   241  NPQNQLRCSQ EMEPVITCDK KFRTQFYIDW CKISLVDKTK QVSTYQEVIR GEGILPDGGE
   301  YKPPSDSLKS RDYYTDFLIT LAVPSAVALV LFLILAYIMC CRREGVEKRN MQTPDIQLVH
   361  HSAIQKSTKE LRDMSKNREI AWPLSTLPVF HPVTGEIIPP LHTDNYDSTN MPLMQTQQNL
   421  PHQTQIPQQQ TTGKWYP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SGCE 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)
0.45
Highest tissue expression
115 nTPM

Expression across tissuesHPA

Tissue

  • ovary: 115 nTPM
  • adrenal gland: 53 nTPM
  • placenta: 50 nTPM
  • blood vessel: 44 nTPM
  • smooth muscle: 39 nTPM
  • spinal cord: 36 nTPM

Single-cell type

  • thyrotrophs: 363 nCPM
  • gonadotrophs: 327 nCPM
  • lactotrophs: 318 nCPM
  • sertoli cells: 284 nCPM
  • corticotrophs: 263 nCPM
  • somatotrophs: 256 nCPM

Immune cell

  • naive B-cell: 6.7 nTPM
  • memory B-cell: 4.5 nTPM
  • gdT-cell: 2.1 nTPM
  • memory CD8 T-cell: 1 nTPM
  • NK-cell: 1 nTPM
  • MAIT T-cell: 0.8 nTPM

Brain region

  • white matter: 29 nTPM
  • medulla oblongata: 23 nTPM
  • spinal cord: 21 nTPM
  • cerebellum: 20 nTPM
  • basal ganglia: 20 nTPM
  • pons: 19 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SGCE.

Disease | AllUniProt

Conditions SGCE is implicated in, by any mechanism.

Disease | GeneticClinVar

160 pathogenic / likely-pathogenic of 758 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

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)
0.54
gnomAD pLI
0.02
gnomAD missense Z
1.05
DepMap mean gene effect
-0.15
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SGCE as an antibody target. Whether an autoantibody or antibody against SGCE could matter depends on whether native SGCE is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SGCE is annotated at the cell surface, where native SGCE is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label SGCE as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/SGCE. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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