SGCE sarcoglycan epsilon [Homo sapiens (human)] - Gene

Summary

Official Symbol: SGCEprovided by HGNC
Official Full Name: sarcoglycan epsilonprovided by HGNC
Primary source: HGNC:HGNC:10808
See related: Ensembl:ENSG00000127990 MIM:604149; AllianceGenome:HGNC:10808
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ESG; DYT11; epsilon-SG
Summary: 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]
Expression: Ubiquitous expression in ovary (RPKM 12.3), adrenal (RPKM 10.3) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7q21.3

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (94584980..94656133, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (95820944..95892057, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (94214292..94285445, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1.
Title: SGCE promotes breast cancer stemness by promoting the transcription of FGF-BP1 by Sp1.
Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
Title: Cortical neuronal hyperexcitability and synaptic changes in SGCE mutation-positive myoclonus dystonia.
Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
Title: Loss-of-function mutations in SGCE found in Japanese patients with myoclonus-dystonia.
First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study.
Title: First report of pathogenic SGCE variants in Mexican patients with myoclonus dystonia: A five-year follow-up study.
epsilon-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
Title: ε-Sarcoglycan: Unraveling the Myoclonus-Dystonia Gene.
Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child.
Title: Favorable response to carbamazepine therapy in genetically proven myoclonus-dystonia child.
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Title: Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
SGCE gene variants can cause myoclonus dystonia syndrome. The onset of the disease may occur at infancy or preschool age, with either myoclonic jerks or dystonia as the initial symptom.--- SGCE gene is imprinted maternally, and the inherited variants of SGCE are paternal in origin.
Title: [Clinical and genetic analysis of childhood-onset myoclonus dystonia syndrome caused by SGCE variants].
SGCE mutations can occur in sporadic patients when the phenotype is consistent with Myoclonus-Dystonia syndrome.
Title: Screening for SGCE mutations in Moroccan sporadic patients with Myoclonus-Dystonia syndrome.
The characterization of iPSC-derived cortical neurons with mutations in SGCE revealed that these cells are a suitable model mirroring the endogenous environment in the myoclonus-dystonia patient brain, especially, when focusing on concrete molecular aspects of the disease mechanism.
Title: Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.

Submit: New GeneRIF Correction See all GeneRIFs (72)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Myoclonic dystonia 11 MedGen: C1834570 OMIM: 159900 GeneReviews: SGCE Myoclonus-Dystonia	Compare labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-11-11) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-11-11) ClinGen Genome Curation Page

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-33751 (e-PCR)
- UniSTS:29232

RH46573 (e-PCR)
- UniSTS:90775

SHGC-79514 (e-PCR)
- UniSTS:103644

SHGC-153737 (e-PCR)
- UniSTS:177908

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in cell-matrix adhesion	TAS Traceable Author Statement more info	PubMed
involved_in muscle organ development	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in dendrite membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of dystrophin-associated glycoprotein complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
part_of sarcoglycan complex	IBA Inferred from Biological aspect of Ancestor more info
located_in sarcolemma	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: epsilon-sarcoglycan

Names: dystonia 11, myoclonic

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008893.3 RefSeqGene

Range

5440..76593

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_206

mRNA and Protein(s)

NM_001099400.2 → NP_001092870.1 epsilon-sarcoglycan isoform 3

See identical proteins and their annotated locations for NP_001092870.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two exons and contains an additional exon in the coding region, compared to variant 5. It encodes isoform 3, which shares the same termini, but is shorter than isoform 5.

Source sequence(s)

AB117974, AC069292, AJ000534, AY359042

Consensus CDS

CCDS47642.1

UniProtKB/TrEMBL

A0A2R8Y7J1

Related

ENSP00000496237.1, ENST00000642933.1

Conserved Domains (1) summary

pfam05510
Location:34 → 410

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001099401.2 → NP_001092871.1 epsilon-sarcoglycan isoform 1

See identical proteins and their annotated locations for NP_001092871.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 5' coding region and contains an additional in-frame exon in the 3' coding region, compared to variant 5. It encodes isoform 1, which shares the same termini, but is shorter than isoform 5.

Source sequence(s)

AC069292, AJ000534, AL547747, AY359042

Consensus CDS

CCDS47643.1

UniProtKB/TrEMBL

A0A2R8Y4X1

Related

ENSP00000398930.2, ENST00000445866.7

Conserved Domains (2) summary

pfam05510
Location:34 → 418

Sarcoglycan_2; Sarcoglycan alpha/epsilon

pfam13900
Location:424 → 443

GVQW; Putative domain of unknown function
NM_001301139.2 → NP_001288068.1 epsilon-sarcoglycan isoform 4

See identical proteins and their annotated locations for NP_001288068.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks two consecutive in-frame exons in the 5' coding region, compared to variant 5. It encodes isoform 4, which lacks an internal in-frame segment and is shorter, compared to isoform 5.

Source sequence(s)

AC069292, AK298220, AY359042

Consensus CDS

CCDS75634.1

UniProtKB/TrEMBL

B4DP78, E9PEH6

Related

ENSP00000394061.2, ENST00000437425.7

Conserved Domains (1) summary

pfam05510
Location:33 → 377

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001346713.2 → NP_001333642.1 epsilon-sarcoglycan isoform 5 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (5) represents the longest transcript and encodes the longest isoform (5).

Source sequence(s)

AC069292, AI640287

Consensus CDS

CCDS87523.1

UniProtKB/TrEMBL

A0A2R8YGQ3, B7Z2R4

Related

ENSP00000496268.1, ENST00000646489.1

Conserved Domains (1) summary

pfam05510
Location:73 → 455

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001346715.2 → NP_001333644.1 epsilon-sarcoglycan isoform 6 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks an alternate in-frame exon in the 3' coding region, compared to variant 5. It encodes isoform 6, which lacks an internal, in-frame segment and is shorter, compared to isoform 5.

Source sequence(s)

AC069292, AI640287

Consensus CDS

CCDS87522.1

UniProtKB/TrEMBL

A0A2R8Y5J3, B7Z2R4

Related

ENSP00000494488.1, ENST00000643272.1

Conserved Domains (1) summary

pfam05510
Location:73 → 446

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001346717.2 → NP_001333646.1 epsilon-sarcoglycan isoform 7

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks two alternate in-frame exons in the coding region, compared to variant 5. It encodes isoform 7, which lacks two separate internal in-frame segments and is shorter, compared to isoform 5.

Source sequence(s)

AC069292, AI640287, DA164109, KU178450

Consensus CDS

CCDS87520.1

UniProtKB/TrEMBL

A0A2R8Y628, C9JR67

Related

ENSP00000388734.1, ENST00000447873.6

Conserved Domains (1) summary

pfam05510
Location:34 → 410

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001346719.2 → NP_001333648.1 epsilon-sarcoglycan isoform 8

Status: REVIEWED

Description

Transcript Variant: This variant (8) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 5. It encodes isoform 8, which has a shorter N-terminus, compared to isoform 5.

Source sequence(s)

AC069292, AI640287

UniProtKB/TrEMBL

A0A2R8Y5H7
NM_001346720.2 → NP_001333649.1 epsilon-sarcoglycan isoform 9

Status: REVIEWED

Description

Transcript Variant: This variant (9) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 5. It encodes isoform 9, which has a shorter N-terminus, compared to isoform 5.

Source sequence(s)

AC069292, AI640287

UniProtKB/TrEMBL

A0A2R8Y7Q5

Conserved Domains (1) summary

pfam05510
Location:1 → 328

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001362807.2 → NP_001349736.1 epsilon-sarcoglycan isoform 10

Status: REVIEWED

Source sequence(s)

AC069292, AY359042

UniProtKB/TrEMBL

A0A2R8Y628

Conserved Domains (1) summary

pfam05510
Location:8 → 380

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001362808.2 → NP_001349737.1 epsilon-sarcoglycan isoform 11

Status: REVIEWED

Source sequence(s)

AC069292, AI640287

UniProtKB/TrEMBL

A0A2R8Y7Q5

Related

ENSP00000496455.1, ENST00000644681.1

Conserved Domains (1) summary

pfam05510
Location:1 → 319

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_001362809.2 → NP_001349738.1 epsilon-sarcoglycan isoform 12

Status: REVIEWED

Source sequence(s)

AC069292, AK298220, AY359042, BQ717921

Consensus CDS

CCDS87519.1

UniProtKB/TrEMBL

A0A2R8Y448, B4DP78

Related

ENSP00000493751.1, ENST00000642394.1

Conserved Domains (1) summary

pfam05510
Location:33 → 369

Sarcoglycan_2; Sarcoglycan alpha/epsilon
NM_003919.3 → NP_003910.1 epsilon-sarcoglycan isoform 2

See identical proteins and their annotated locations for NP_003910.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 5. It encodes isoform 2, which lacks an internal in-frame segment and is shorter, compared to isoform 5.

Source sequence(s)

AC069292, AJ000534, AY359042

Consensus CDS

CCDS5637.1

UniProtKB/Swiss-Prot

B2R8N2, D6W5Q8, E9PF60, G5E9K6, O43556, Q6L8P0, Q75MH8, Q8NFG8, Q8WW28

UniProtKB/TrEMBL

A0A0S2Z4P5, A0A2R8Y6V3

Related

ENSP00000497130.1, ENST00000648936.2

Conserved Domains (1) summary

pfam05510
Location:34 → 419

Sarcoglycan_2; Sarcoglycan alpha/epsilon