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    SGCE sarcoglycan epsilon [ Homo sapiens (human) ]

    Gene ID: 8910, updated on 6-Aug-2017
    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]
    Orthologs
    Location:
    7q21.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 COL1A2 antisense RNA 1 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

    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 
    membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    muscle organ development TAS
    Traceable Author Statement
    more info
    PubMed 
    muscle system process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    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
     
    Preferred Names
    epsilon-sarcoglycan
    Names
    dystonia 11, myoclonic

    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
      ENSP00000397536.2, OTTHUMP00000208299, ENST00000428696.6, OTTHUMT00000340757
      Conserved Domains (1) summary
      pfam05510
      Location:34410
      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, ENST00000445866.6, 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, ENST00000437425.6, OTTHUMT00000340755
      Conserved Domains (1) summary
      pfam05510
      Location:33378
      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
    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
    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
      UniProtKB/TrEMBL
      C9JR67
    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
    9. 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, ENST00000265735.11, OTTHUMT00000255251
      Conserved Domains (1) summary
      pfam05510
      Location:34419
      Sarcoglycan_2; Sarcoglycan alpha/epsilon

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005250675.4XP_005250732.1  epsilon-sarcoglycan isoform X6

      Related
      ENSP00000405313.2, OTTHUMP00000208303, ENST00000415788.2, OTTHUMT00000340761
      Conserved Domains (1) summary
      pfam05510
      Location:73455
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    2. XM_017012764.1XP_016868253.1  epsilon-sarcoglycan isoform X8

      Related
      ENSP00000388734.1, OTTHUMP00000208300, ENST00000447873.5, OTTHUMT00000340758
      Conserved Domains (1) summary
      pfam05510
      Location:34410
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    3. XM_005250677.4XP_005250734.1  epsilon-sarcoglycan isoform X4

      Conserved Domains (1) summary
      pfam05510
      Location:73446
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    4. XM_017012769.1XP_016868258.1  epsilon-sarcoglycan isoform X14

    5. XM_017012768.1XP_016868257.1  epsilon-sarcoglycan isoform X13

    6. XM_017012765.1XP_016868254.1  epsilon-sarcoglycan isoform X9

    7. XM_017012766.1XP_016868255.1  epsilon-sarcoglycan isoform X10

      Conserved Domains (1) summary
      pfam05510
      Location:8381
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    8. XM_017012767.1XP_016868256.1  epsilon-sarcoglycan isoform X12

    9. XM_011516664.2XP_011514966.1  epsilon-sarcoglycan isoform X2

      Conserved Domains (1) summary
      pfam05510
      Location:73446
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    10. XM_011516666.2XP_011514968.1  epsilon-sarcoglycan isoform X5

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

      Conserved Domains (1) summary
      pfam05510
      Location:73455
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    12. XM_011516669.2XP_011514971.1  epsilon-sarcoglycan isoform X11

      Conserved Domains (1) summary
      pfam05510
      Location:1328
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    13. XM_011516665.2XP_011514967.1  epsilon-sarcoglycan isoform X3

      Conserved Domains (1) summary
      pfam05510
      Location:34419
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    14. XM_011516667.2XP_011514969.1  epsilon-sarcoglycan isoform X7

      Conserved Domains (1) summary
      pfam05510
      Location:8390
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    15. XM_017012763.1XP_016868252.1  epsilon-sarcoglycan isoform X7

      Conserved Domains (1) summary
      pfam05510
      Location:8390
      Sarcoglycan_2; Sarcoglycan alpha/epsilon
    16. XM_017012770.1XP_016868259.1  epsilon-sarcoglycan isoform X15

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

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