Homo sapiens (human): 6442
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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)
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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
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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
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