KEGG   Homo sapiens (human): 8910
Entry
8910              CDS       T01001                                 
Symbol
SGCE, DYT11, ESG, epsilon-SG
Name
(RefSeq) sarcoglycan epsilon
  KO
K27061  epsilon-sarcoglycan
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Disease
H00831  Primary dystonia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    8910 (SGCE)
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    8910 (SGCE)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    8910 (SGCE)
   05414 Dilated cardiomyopathy
    8910 (SGCE)
   05416 Viral myocarditis
    8910 (SGCE)
SSDB
Motif
Pfam: Sarcoglycan_2 Sarcoglycan_2_C Het-C
Other DBs
NCBI-GeneID: 8910
NCBI-ProteinID: NP_003910
OMIM: 604149
HGNC: 10808
Ensembl: ENSG00000127990
UniProt: O43556 A0A0S2Z4P5
Position
7:complement(94584980..94656133)
AA seq 437 aa
MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVH
VLEREYFKGEFPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTA
ENVGKPTIIEITAYNRRTFETARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVL
GDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDLKEGVYVMVGADVPFSSCLREVE
NPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTKQVSTYQEVIRGEGILPDGGE
YKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRNMQTPDIQLVH
HSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNL
PHQTQIPQQQTTGKWYP
NT seq 1314 nt   +upstreamnt  +downstreamnt
atgcaattgccccggtggtgggagctgggagacccctgtgcttggacgggacagggtcgg
gggacacgcaggatgagccccgcgaccactggcacattcttgctgacagtgtacagtatt
ttctccaaggtacactccgatcggaatgtatacccatcagcaggtgtcctctttgttcat
gttttggaaagagaatattttaagggggaatttccaccttacccaaaacctggcgagatt
agtaatgatcccataacatttaatacaaatttaatgggttacccagaccgacctggatgg
cttcgatatatccaaaggacaccatatagtgatggagtcctatatgggtccccaacagct
gaaaatgtggggaagccaacaatcattgagataactgcctacaacaggcgcacctttgag
actgcaaggcataatttgataattaatataatgtctgcagaagacttcccgttgccatat
caagcagaattcttcattaagaatatgaatgtagaagaaatgttggccagtgaggttctt
ggagactttcttggcgcagtgaaaaatgtgtggcagccagagcgcctgaacgccataaac
atcacatcggccctagacaggggtggcagggtgccacttcccattaatgacctgaaggag
ggcgtttatgtcatggttggtgcagatgtcccgttttcttcttgtttacgagaagttgaa
aatccacagaatcaattgagatgtagtcaagaaatggagcctgtaataacatgtgataaa
aaatttcgtactcaattttacattgactggtgcaaaatttcattggttgataaaacaaag
caagtgtccacctatcaggaagtgattcgtggagaggggattttacctgatggtggagaa
tacaaacccccttctgattctttgaaaagcagagactattacacggatttcctaattaca
ctggctgtgccctcggcagtggcactggtcctttttctaatacttgcttatatcatgtgc
tgccgacgggaaggcgtggaaaagagaaacatgcaaacaccagacatccaactggtccat
cacagtgctattcagaaatctaccaaggagcttcgagacatgtccaagaatagagagata
gcatggcccctgtcaacgcttcctgtgttccaccctgtgactggggaaatcatacctcct
ttacacacagacaactatgatagcacaaacatgccattgatgcaaacgcagcagaacttg
ccacatcagactcagattccccaacagcagactacaggtaaatggtatccctga

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Ontology (1)   
   KEGG BRITE (1)   
Pathway (5)   
   KEGG PATHWAY (5)   
Disease (3)   
   KEGG DISEASE (1)   
   OMIM (2)   
Genome (1)   
   KEGG GENOME (1)   
Gene (14)   
   KEGG ORTHOLOGY (1)   
   RefGene (4)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (4)   
   OC (1)   
Protein sequence (15)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (12)   
DNA sequence (46)   
   RefSeq(nuc) (12)   
   GenBank (17)   
   EMBL (17)   
Protein domain (3)   
   Pfam (3)   
All databases (88)   

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