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Sgce sarcoglycan, epsilon [ Mus musculus (house mouse) ]

Gene ID: 20392, updated on 6-Jun-2024

Summary

Official Symbol
Sgceprovided by MGI
Official Full Name
sarcoglycan, epsilonprovided by MGI
Primary source
MGI:MGI:1329042
See related
Ensembl:ENSMUSG00000004631 AllianceGenome:MGI:1329042
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
e-SG
Summary
Located in Golgi apparatus and dendrite membrane. Is expressed in several structures, including allantois; heart; liver; lung; and placenta. Used to study myoclonic dystonia 11. Human ortholog(s) of this gene implicated in myoclonic dystonia. Orthologous to human SGCE (sarcoglycan epsilon). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in placenta adult (RPKM 22.2), bladder adult (RPKM 18.3) and 23 other tissues See more
Orthologs
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Genomic context

See Sgce in Genome Data Viewer
Location:
6 A1; 6 1.81 cM
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (4674350..4747180, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (4674350..4747204, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene CAS1 domain containing 1 Neighboring gene predicted gene, 38761 Neighboring gene STARR-seq mESC enhancer starr_15017 Neighboring gene STARR-seq mESC enhancer starr_15018 Neighboring gene STARR-seq mESC enhancer starr_15019 Neighboring gene paternally expressed 10 Neighboring gene predicted gene, 51408

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (5) 
  • Gene trapped (1) 
  • Targeted (5)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite membrane IDA
Inferred from Direct Assay
more info
PubMed 
part_of dystrophin-associated glycoprotein complex ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
PubMed 
part_of sarcoglycan complex IBA
Inferred from Biological aspect of Ancestor
more info
 
part_of sarcoglycan complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
epsilon-sarcoglycan
Names
epsilon-SG

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.

mRNA and Protein(s)

  1. NM_001130188.2NP_001123660.1  epsilon-sarcoglycan isoform 1

    See identical proteins and their annotated locations for NP_001123660.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC084315, AC091395
    Consensus CDS
    CCDS51718.1
    UniProtKB/TrEMBL
    Q3V1W5
    Related
    ENSMUSP00000111240.3, ENSMUST00000115577.9
    Conserved Domains (1) summary
    pfam05510
    Location:73455
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  2. NM_001130189.2NP_001123661.1  epsilon-sarcoglycan isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR, lacks an alternate in-frame exon in both the 5' and mid coding regions, and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting isoform (2) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC084315, AC091395
    Consensus CDS
    CCDS85013.1
    UniProtKB/TrEMBL
    F8WGM3, Q6L8N9
    Related
    ENSMUSP00000004750.10, ENSMUST00000004750.15
    Conserved Domains (1) summary
    pfam05510
    Location:34410
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  3. NM_001130190.2NP_001123662.1  epsilon-sarcoglycan isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR, lacks an alternate in-frame exon in the 5' coding region, and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting isoform (3) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC084315, AC091395
    Consensus CDS
    CCDS51717.1
    UniProtKB/TrEMBL
    F6R6P2, Q4H438
    Related
    ENSMUSP00000121964.3, ENSMUST00000133306.8
    Conserved Domains (1) summary
    pfam05510
    Location:34419
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  4. NM_001130191.2NP_001123663.1  epsilon-sarcoglycan isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 3' UTR, lacks an alternate in-frame exon in both the 5' and mid coding regions, and includes an alternate exon in the 3' coding region, compared to variant 1. The resulting isoform (5) has a distinct C-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC084315, AC091395
    Consensus CDS
    CCDS51715.1
    UniProtKB/TrEMBL
    E9PX46, Q4H437
    Related
    ENSMUSP00000099200.5, ENSMUST00000101677.9
    Conserved Domains (1) summary
    pfam05510
    Location:34410
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  5. NM_001410332.1NP_001397261.1  epsilon-sarcoglycan isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
    UniProtKB/TrEMBL
    Q4H437
  6. NM_001410333.1NP_001397262.1  epsilon-sarcoglycan isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
    UniProtKB/TrEMBL
    Q6L8N9
  7. NM_001410334.1NP_001397263.1  epsilon-sarcoglycan isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
    UniProtKB/TrEMBL
    D3Z572, Q4H437
    Related
    ENSMUSP00000088185.5, ENSMUST00000090686.11
  8. NM_001410335.1NP_001397264.1  epsilon-sarcoglycan isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
    UniProtKB/TrEMBL
    F6WKE4, Q4H438
    Related
    ENSMUSP00000120718.3, ENSMUST00000126151.8
  9. NM_001410336.1NP_001397265.1  epsilon-sarcoglycan isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
    UniProtKB/TrEMBL
    Q4H437
  10. NM_001410337.1NP_001397266.1  epsilon-sarcoglycan isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
    UniProtKB/TrEMBL
    Q6L8N9
  11. NM_001410338.1NP_001397267.1  epsilon-sarcoglycan isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
    UniProtKB/TrEMBL
    Q4H438
  12. NM_001410339.1NP_001397268.1  epsilon-sarcoglycan isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
    UniProtKB/TrEMBL
    Q4H437
  13. NM_011360.4NP_035490.3  epsilon-sarcoglycan isoform 4

    See identical proteins and their annotated locations for NP_035490.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (4) is shorter than isoform 1.
    Source sequence(s)
    AC084315, AC091395
    Consensus CDS
    CCDS51716.1
    UniProtKB/Swiss-Prot
    O70258, Q921G2
    UniProtKB/TrEMBL
    Q3V1W5
    Related
    ENSMUSP00000111242.2, ENSMUST00000115579.8
    Conserved Domains (1) summary
    pfam05510
    Location:34419
    Sarcoglycan_2; Sarcoglycan alpha/epsilon

RNA

  1. NR_177058.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395
  2. NR_177059.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC084315, AC091395

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    4674350..4747180 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006505020.5XP_006505083.1  epsilon-sarcoglycan isoform X2

    UniProtKB/TrEMBL
    Q6L8N9
    Conserved Domains (1) summary
    pfam05510
    Location:79446
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  2. XM_030255278.2XP_030111138.1  epsilon-sarcoglycan isoform X4

    UniProtKB/TrEMBL
    Q4H437
    Conserved Domains (1) summary
    pfam05510
    Location:79446
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  3. XM_006505019.5XP_006505082.1  epsilon-sarcoglycan isoform X1

    UniProtKB/TrEMBL
    Q6L8N9
    Conserved Domains (1) summary
    pfam05510
    Location:79455
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  4. XM_030255277.2XP_030111137.1  epsilon-sarcoglycan isoform X3

    UniProtKB/TrEMBL
    Q4H438
    Conserved Domains (1) summary
    pfam05510
    Location:79455
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  5. XM_036165975.1XP_036021868.1  epsilon-sarcoglycan isoform X9

    UniProtKB/TrEMBL
    Q6L8N9
    Conserved Domains (1) summary
    pfam05510
    Location:33369
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  6. XM_036165974.1XP_036021867.1  epsilon-sarcoglycan isoform X8

    UniProtKB/TrEMBL
    Q6L8N9
    Conserved Domains (1) summary
    pfam05510
    Location:33378
    Sarcoglycan_2; Sarcoglycan alpha/epsilon
  7. XM_006505024.4XP_006505087.1  epsilon-sarcoglycan isoform X12

    UniProtKB/TrEMBL
    Q6L8N9
    Conserved Domains (1) summary
    pfam05510
    Location:1328
    Sarcoglycan_2; Sarcoglycan alpha/epsilon