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Gene

SGCE

sarcoglycan epsilon

Summary

Cytogenetic location
7q21.3
Coordinates
Chromosome 7: 94,584,980–94,656,133 (GRCh38)
Exons
11 exons across 71.2 kb
Protein
437 amino acids
Previous symbols
DYT11
MANE Select transcript
ENST00000648936.2NM_003919.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Dystonia, Myotonia, Paroxysmal Dyskinesia

    • Inherited Dystonia

      Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.

      • 5 GenCC submitters rate it definitive or strong

How SGCE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 7, with a bracket where SGCE sits. SGCE and 4 genes near it on chromosome 7, from 94,120,557 to 95,120,556.Chromosome 77q21.3p22.3p22.2p22.1p21.3p21.2p21.1p15.3p15.2p15.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.21q11.22q11.23q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q31.1q31.2q31.31q31.32q31.33q32.1q32.2q32.3q33q34q35q36.1q36.2q36.394.2 Mb94.4 Mb94.6 Mb94.8 Mb95 MbCOL1A2: 94,394,360–94,431,227, forward strandCOL1A2CASD1: 94,509,219–94,576,851, forward strandCASD1SGCE: 94,584,980–94,656,133, reverse strandSGCEPEG10: 94,656,325–94,669,695, forward strandPEG10PPP1R9A: 94,907,202–95,296,415, forward strandPPP1R9ADiagram of SGCE: 11 exons on the reverse strand of chromosome 7Exon 10: 1 known disease-causing siteExon 9: 8 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 15 known disease-causing sitesExon 6: 32 known disease-causing sitesExon 5: 18 known disease-causing sitesExon 4: 5 known disease-causing sitesExon 3: 11 known disease-causing sitesExon 2: 10 known disease-causing sitesExon 1: 1 known disease-causing siteExon 11: 94,584,980–94,585,515, 536 basesExon 10: 94,588,689–94,588,732, 44 basesExon 9: 94,598,775–94,598,963, 189 basesExon 8: 94,599,697–94,599,723, 27 basesExon 7: 94,600,646–94,600,857, 212 basesExon 6: 94,603,290–94,603,452, 163 basesExon 5: 94,618,758–94,618,956, 199 basesExon 4: 94,623,325–94,623,397, 73 basesExon 3: 94,628,202–94,628,359, 158 basesExon 2: 94,629,719–94,629,841, 123 basesExon 1: 94,655,990–94,656,133, 144 bases1110864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.9 kb of the gene's 71.2 kb; 1,314 of those bases code for the protein.

How a genome test reads SGCE

123

positions in SGCE where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 71.2 kb of SGCE, introns included, not only the 1.9 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). SGCE gene: sarcoglycan epsilon. Retrieved 17 October 2026, from https://dantelabs.com/genes/sgce

Vancouver

Dante Labs. SGCE gene: sarcoglycan epsilon [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/sgce

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