Homo sapiens (human): 6442
Help
Entry
6442 CDS
T01001
Symbol
SGCA, 50DAG, ADL, DAG2, DMDA2, LGMD2D, LGMDR3, SCARMD1, adhalin
Name
(RefSeq) sarcoglycan alpha
KO
K12565
alpha-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
H00565
Sarcoglycanopathies
H00593
Limb-girdle muscular dystrophy
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09140 Cellular Processes
09142 Cell motility
04820 Cytoskeleton in muscle cells
6442 (SGCA)
09160 Human Diseases
09166 Cardiovascular disease
05410 Hypertrophic cardiomyopathy
6442 (SGCA)
05412 Arrhythmogenic right ventricular cardiomyopathy
6442 (SGCA)
05414 Dilated cardiomyopathy
6442 (SGCA)
05416 Viral myocarditis
6442 (SGCA)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Sarcoglycan_2
Sarcoglycan_2_C
Motif
Other DBs
NCBI-GeneID:
6442
NCBI-ProteinID:
NP_000014
OMIM:
600119
HGNC:
10805
Ensembl:
ENSG00000108823
UniProt:
Q16586
A0A0S2Z4Q1
LinkDB
All DBs
Position
17:50166005..50175928
Genome browser
AA seq
387 aa
AA seq
DB search
MAETLFWTPLLVVLLAGLGDTEAQQTTLHPLVGRVFVHTLDHETFLSLPEHVAVPPAVHI
TYHAHLQGHPDLPRWLRYTQRSPHHPGFLYGSATPEDRGLQVIEVTAYNRDSFDTTRQRL
VLEIGDPEGPLLPYQAEFLVRSHDAEEVLPSTPASRFLSALGGLWEPGELQLLNVTSALD
RGGRVPLPIEGRKEGVYIKVGSASPFSTCLKMVASPDSHARCAQGQPPLLSCYDTLAPHF
RVDWCNVTLVDKSVPEPADEVPTPGDGILEHDPFFCPPTEAPDRDFLVDALVTLLVPLLV
ALLLTLLLAYVMCCRREGRLKRDLATSDIQMVHHCTIHGNTEELRQMAASREVPRPLSTL
PMFNVHTGERLPPRVDSAQVPLILDQH
NT seq
1164 nt
NT seq
+upstream
nt +downstream
nt
atggctgagacactcttctggactcctctcctcgtggttctcctggcagggctgggggac
accgaggcccagcagaccacgctacacccacttgtgggccgtgtctttgtgcacaccttg
gaccatgagacgtttctgagccttcctgagcatgtcgctgtcccacccgctgtccacatc
acctaccacgcccacctccagggacacccagacctgccccggtggctccgctacacccag
cgcagcccccaccaccctggcttcctctacggctctgccaccccagaagatcgtgggctc
caggtcattgaggtcacagcctacaatcgggacagctttgataccactcggcagaggctg
gtgctggagattggggacccagaaggccccctgctgccataccaagccgagttcctggtg
cgcagccacgatgcggaggaggtgctgccctcaacacctgccagccgcttcctctcagcc
ttggggggactctgggagcccggagagcttcagctgctcaacgtcacctctgccttggac
cgtgggggccgtgtcccccttcccattgagggccgaaaagaaggggtatacattaaggtg
ggttctgcctcacctttttctacttgcctgaagatggtggcatcccccgatagccacgcc
cgctgtgcccagggccagcctccacttctgtcttgctacgacaccttggcaccccacttc
cgcgttgactggtgcaatgtgaccctggtggataagtcagtgccggagcctgcagatgag
gtgcccaccccaggtgatgggatcctggagcatgacccgttcttctgcccacccactgag
gccccagaccgtgacttcttggtggatgctctggtcaccctcctggtgcccctgctggtg
gccctgcttctcaccttgctgctggcctatgtcatgtgctgccggcgggagggaaggctg
aagagagacctggctacctccgacatccagatggtccaccactgcaccatccacgggaac
acagaggagctgcggcagatggcggccagccgcgaggtgccccggccactctccaccctg
cccatgttcaatgtgcacacaggtgagcggctgcctccccgcgtggacagcgcccaggtg
cccctcattctggaccagcactga
Homo sapiens (human): 8910
Help
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
UniProt:
O43556
A0A0S2Z4P5
LinkDB
All DBs
Position
7:complement(94584980..94656133)
Genome browser
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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integrated database retrieval system
