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SGCE sarcoglycan, epsilon [ Homo sapiens (human) ]

Gene ID: 8910, updated on 23-May-2015
Official Symbol
SGCEprovided by HGNC
Official Full Name
sarcoglycan, epsilonprovided by HGNC
Primary source
HGNC:HGNC:10808
See related
Ensembl:ENSG00000127990; HPRD:04999; 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
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.[provided by RefSeq, Oct 2010]
Orthologs
See SGCE in MapViewer
Location:
7q21.3
Exon count:
15
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 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 uncharacterized LOC101927525 Neighboring gene collagen, type I, alpha 2 Neighboring gene uncharacterized LOC105375404 Neighboring gene CAS1 domain containing 1 Neighboring gene paternally expressed 10 Neighboring gene ribosomal protein S3a pseudogene 25

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
Products Interactant Other Gene Complex Source Pubs Description

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 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
 
Preferred Names
epsilon-sarcoglycan
Names
epsilon-sarcoglycan
dystonia 11, myoclonic
epsilon-SG

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_008893.1 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) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AB117974, AJ000534, AY359042, BI552969
    Consensus CDS
    CCDS47642.1
    UniProtKB/Swiss-Prot
    O43556
    Related
    ENSP00000397536, OTTHUMP00000208299, ENST00000428696, OTTHUMT00000340757
    Conserved Domains (2) summary
    smart00736
    Location:51155
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:30409
    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) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC069292, AJ000534, AL547747, AY359042, BI552969
    Consensus CDS
    CCDS47643.1
    UniProtKB/Swiss-Prot
    O43556
    Related
    ENSP00000398930, OTTHUMP00000208298, ENST00000445866, OTTHUMT00000340756
    Conserved Domains (3) summary
    smart00736
    Location:51155
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:30418
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
    pfam13900
    Location:424443
    GVQW; Putative binding domain
  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 in-frame exons in the 5' and 3' coding region, compared to variant 1. The encoded isoform (4) is shorter, compared to isoform 1.
    Source sequence(s)
    AK298220, AY359042, BI552969
    Consensus CDS
    CCDS75634.1
    UniProtKB/TrEMBL
    B4DP78
    UniProtKB/TrEMBL
    E9PEH6
    UniProtKB/Swiss-Prot
    O43556
    Related
    ENSP00000394061, OTTHUMP00000208297, ENST00000437425, OTTHUMT00000340755
    Conserved Domains (2) summary
    smart00736
    Location:40114
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:22377
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  4. 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, compared to variant 1, resulting in a shorter protein (isoform 2) that has a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AJ000534, AY359042, BI552969
    Consensus CDS
    CCDS5637.1
    UniProtKB/Swiss-Prot
    O43556
    Related
    ENSP00000265735, OTTHUMP00000163052, ENST00000265735, OTTHUMT00000255251
    Conserved Domains (2) summary
    smart00736
    Location:51155
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:30418
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p2 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005250677.3XP_005250734.1  

    See identical proteins and their annotated locations for XP_005250734.1

    Conserved Domains (2) summary
    smart00736
    Location:87191
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:73445
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  2. XM_005250675.3XP_005250732.1  

    See identical proteins and their annotated locations for XP_005250732.1

    Conserved Domains (2) summary
    smart00736
    Location:87191
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:73454
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  3. XM_011516664.1XP_011514966.1  

    Conserved Domains (2) summary
    smart00736
    Location:87191
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:73445
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  4. XM_011516666.1XP_011514968.1  

    Conserved Domains (2) summary
    smart00736
    Location:51155
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:30409
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  5. XM_011516663.1XP_011514965.1  

    Conserved Domains (2) summary
    smart00736
    Location:87191
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:73454
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  6. XM_011516665.1XP_011514967.1  

    Conserved Domains (2) summary
    smart00736
    Location:51155
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:30418
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  7. XM_011516668.1XP_011514970.1  

    Conserved Domains (2) summary
    smart00736
    Location:40114
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:22377
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  8. XM_011516667.1XP_011514969.1  

    Conserved Domains (2) summary
    smart00736
    Location:22126
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:8389
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  9. XM_011516669.1XP_011514971.1  

    Conserved Domains (2) summary
    smart00736
    Location:164
    CADG; Dystroglycan-type cadherin-like domains
    pfam05510
    Location:1327
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

Alternate CHM1_1.1

Genomic

  1. NC_018918.2 Alternate CHM1_1.1

    Range
    94144608..94215565
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)