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SGCE sarcoglycan epsilon [ Homo sapiens (human) ]

Gene ID: 8910, updated on 5-Aug-2018

Summary

Official Symbol
SGCEprovided by HGNC
Official Full Name
sarcoglycan epsilonprovided by HGNC
Primary source
HGNC:HGNC:10808
See related
Ensembl:ENSG00000127990 MIM:604149; Vega:OTTHUMG00000022828
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

Genomic context

See SGCE in Genome Data Viewer
Location:
7q21.3
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (94585224..94656209, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (94214536..94285521, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene collagen type I alpha 2 chain Neighboring gene uncharacterized LOC105375404 Neighboring gene RNA, U6 small nuclear 1328, pseudogene Neighboring gene CAS1 domain containing 1 Neighboring gene paternally expressed 10 Neighboring gene ribosomal protein S3a pseudogene 25

Genomic regions, transcripts, and products

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2012-05-17)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2012-05-17)

ClinGen Genome Curation PagePubMed

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cell-matrix adhesion TAS
Traceable Author Statement
more info
PubMed 
muscle organ development TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus ISS
Inferred from Sequence or Structural Similarity
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dendrite membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
sarcoglycan complex IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
epsilon-sarcoglycan
Names
dystonia 11, myoclonic

NCBI Reference Sequences (RefSeq)

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

  1. NG_008893.2 RefSeqGene

    Range
    5001..75986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001099400.1NP_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, AJ000534, AY359042, BI552969
    Consensus CDS
    CCDS47642.1
    UniProtKB/Swiss-Prot
    O43556
    Related
    ENSP00000496237.1, OTTHUMP00000208299, ENST00000642933.1, OTTHUMT00000340757
    Conserved Domains (1) summary
    pfam05510
    Location:34409
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  2. NM_001099401.1NP_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, BI552969
    Consensus CDS
    CCDS47643.1
    UniProtKB/Swiss-Prot
    O43556
    Related
    ENSP00000398930.2, OTTHUMP00000208298, ENST00000445866.7, OTTHUMT00000340756
    Conserved Domains (2) summary
    pfam05510
    Location:34418
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
    pfam13900
    Location:424443
    GVQW; Putative domain of unknown function
  3. NM_001301139.1NP_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)
    AK298220, AY359042, BI552969
    Consensus CDS
    CCDS75634.1
    UniProtKB/Swiss-Prot
    O43556
    UniProtKB/TrEMBL
    B4DP78, E9PEH6
    Related
    ENSP00000394061.2, OTTHUMP00000208297, ENST00000437425.7, OTTHUMT00000340755
    Conserved Domains (1) summary
    pfam05510
    Location:33377
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  4. NM_001346713.1NP_001333642.1  epsilon-sarcoglycan isoform 5

    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
    Related
    ENSP00000496268.1, ENST00000646489.1
  5. NM_001346715.1NP_001333644.1  epsilon-sarcoglycan isoform 6

    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
    Related
    ENSP00000494488.1, ENST00000643272.1
  6. NM_001346717.1NP_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)
    AI640287, BI552969, DA164109, KU178450
    Consensus CDS
    CCDS87520.1
    UniProtKB/TrEMBL
    C9JR67
    Related
    ENSP00000388734.1, ENST00000447873.6
    Conserved Domains (1) summary
    pfam05510
    Location:34409
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  7. NM_001346719.1NP_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
  8. NM_001346720.1NP_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
    Conserved Domains (1) summary
    pfam05510
    Location:1327
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  9. NM_001362807.1NP_001349736.1  epsilon-sarcoglycan isoform 10

    Status: REVIEWED

    Source sequence(s)
    AC069292, AY359042
    Conserved Domains (1) summary
    pfam05510
    Location:8380
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  10. NM_001362808.1NP_001349737.1  epsilon-sarcoglycan isoform 11

    Status: REVIEWED

    Source sequence(s)
    AC069292, AI640287
    Conserved Domains (1) summary
    pfam05510
    Location:1318
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  11. NM_001362809.1NP_001349738.1  epsilon-sarcoglycan isoform 12

    Status: REVIEWED

    Source sequence(s)
    AK298220, AY359042, BI552969, BQ717921
    Consensus CDS
    CCDS87519.1
    Conserved Domains (1) summary
    pfam05510
    Location:33368
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  12. NM_003919.2NP_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)
    AJ000534, AY359042, BI552969
    Consensus CDS
    CCDS5637.1
    UniProtKB/Swiss-Prot
    O43556
    UniProtKB/TrEMBL
    A0A0S2Z4P5
    Related
    ENSP00000265735.6, OTTHUMP00000163052, ENST00000265735.12, OTTHUMT00000255251
    Conserved Domains (1) summary
    pfam05510
    Location:34418
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    94585224..94656209 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012769.2XP_016868258.1  epsilon-sarcoglycan isoform X12

    Related
    ENSP00000496455.1, ENST00000644681.1
    Conserved Domains (1) summary
    pfam05510
    Location:1318
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  2. XM_024446987.1XP_024302755.1  epsilon-sarcoglycan isoform X9

    Related
    ENSP00000493751.1, ENST00000642394.1
    Conserved Domains (1) summary
    pfam05510
    Location:33368
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  3. XM_017012766.1XP_016868255.1  epsilon-sarcoglycan isoform X8

    Conserved Domains (1) summary
    pfam05510
    Location:8380
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  4. XM_017012767.1XP_016868256.1  epsilon-sarcoglycan isoform X11

  5. XM_024446986.1XP_024302754.1  epsilon-sarcoglycan isoform X7

    Conserved Domains (1) summary
    pfam05510
    Location:33368
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  6. XM_011516664.2XP_011514966.1  epsilon-sarcoglycan isoform X2

    Conserved Domains (1) summary
    pfam05510
    Location:73446
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  7. XM_011516666.3XP_011514968.1  epsilon-sarcoglycan isoform X4

    Related
    ENSP00000496559.1, ENST00000643193.1
    Conserved Domains (1) summary
    pfam05510
    Location:34410
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  8. XM_011516663.2XP_011514965.1  epsilon-sarcoglycan isoform X1

    Conserved Domains (1) summary
    pfam05510
    Location:73455
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  9. XM_011516669.3XP_011514971.1  epsilon-sarcoglycan isoform X10

    Conserved Domains (1) summary
    pfam05510
    Location:1328
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  10. XM_024446985.1XP_024302753.1  epsilon-sarcoglycan isoform X6

    Conserved Domains (1) summary
    pfam05510
    Location:33377
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  11. XM_011516665.3XP_011514967.1  epsilon-sarcoglycan isoform X3

    Conserved Domains (1) summary
    pfam05510
    Location:34419
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  12. XM_011516667.2XP_011514969.1  epsilon-sarcoglycan isoform X5

    Conserved Domains (1) summary
    pfam05510
    Location:8390
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  13. XM_017012763.1XP_016868252.1  epsilon-sarcoglycan isoform X5

    Conserved Domains (1) summary
    pfam05510
    Location:8390
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
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