Homo sapiens (human): 8910
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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
Network
nt06539
Cytoskeleton in muscle cells
Element
N01816
Costamere
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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Sarcoglycan_2
Sarcoglycan_2_C
Het-C
Motif
Other DBs
NCBI-GeneID:
8910
NCBI-ProteinID:
NP_003910
OMIM:
604149
HGNC:
10808
Ensembl:
ENSG00000127990
Pharos:
O43556
(Tbio)
UniProt:
O43556
A0A0S2Z4P5
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All DBs
Position
7:complement(94584980..94656133)
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AA seq
437 aa
AA seq
DB search
MQLPRWWELGDPCAWTGQGRGTRRMSPATTGTFLLTVYSIFSKVHSDRNVYPSAGVLFVH
VLEREYFKGEFPPYPKPGEISNDPITFNTNLMGYPDRPGWLRYIQRTPYSDGVLYGSPTA
ENVGKPTIIEITAYNRRTFETARHNLIINIMSAEDFPLPYQAEFFIKNMNVEEMLASEVL
GDFLGAVKNVWQPERLNAINITSALDRGGRVPLPINDLKEGVYVMVGADVPFSSCLREVE
NPQNQLRCSQEMEPVITCDKKFRTQFYIDWCKISLVDKTKQVSTYQEVIRGEGILPDGGE
YKPPSDSLKSRDYYTDFLITLAVPSAVALVLFLILAYIMCCRREGVEKRNMQTPDIQLVH
HSAIQKSTKELRDMSKNREIAWPLSTLPVFHPVTGEIIPPLHTDNYDSTNMPLMQTQQNL
PHQTQIPQQQTTGKWYP
NT seq
1314 nt
NT seq
+upstream
nt +downstream
nt
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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