KEGG   Homo sapiens (human): 6445
Entry
6445              CDS       T01001                                 

Gene name
SGCG, 35DAG, A4, DAGA4, DMDA, DMDA1, LGMD2C, LGMDR5, MAM, SCARMD2, SCG3, gamma-SG
Definition
(RefSeq) sarcoglycan gamma
  KO
K12564  gamma-sarcoglycan
Organism
hsa  Homo sapiens (human)
Pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Disease
H00565  Sarcoglycanopathies
H00593  Limb-girdle muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6445 (SGCG)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6445 (SGCG)
   05414 Dilated cardiomyopathy
    6445 (SGCG)
   05416 Viral myocarditis
    6445 (SGCG)
Motif
Pfam: Sarcoglycan_1 DUF2345
Other DBs
NCBI-GeneID: 6445
NCBI-ProteinID: NP_000222
OMIM: 608896
HGNC: 10809
Ensembl: ENSG00000102683
Vega: OTTHUMG00000016563
Pharos: Q13326(Tbio)
UniProt: Q13326
Position
13q12.12
AA seq 291 aa
MVREQYTTATEGICIERPENQYVYKIGIYGWRKRCLYLFVLLLLIILVVNLALTIWILKV
MWFSPAGMGHLCVTKDGLRLEGESEFLFPLYAKEIHSRVDSSLLLQSTQNVTVNARNSEG
EVTGRLKVGPKMVEVQNQQFQINSNDGKPLFTVDEKEVVVGTDKLRVTGPEGALFEHSVE
TPLVRADPFQDLRLESPTRSLSMDAPRGVHIQAHAGKIEALSQMDILFHSSDGMLVLDAE
TVCLPKLVQGTWGPSGSSQSLYEICVCPDGKLYLSVAGVSTTCQEHNHICL
NT seq 876 nt   +upstreamnt  +downstreamnt
atggtgcgtgagcagtacactacagccacagaaggcatctgcatagagaggccagagaat
cagtatgtctacaaaattggcatttatggctggagaaagcgctgtctctacttgtttgtt
cttcttttactcatcatcctcgttgtgaatttagctcttacaatttggattcttaaagtg
atgtggttttctccagcaggaatgggccacttgtgtgtaacaaaagatggactgcgcttg
gaaggggaatcagaatttttattcccattgtatgccaaagaaatacactccagagtggac
tcatctctgcttctacaatcaacccagaatgtgactgtaaatgcgcgcaactcagaaggg
gaggtcacaggcaggttaaaagtcggtcccaaaatggtagaagtccagaatcaacagttt
cagatcaactccaacgacggcaagccactatttactgtagatgagaaggaagttgtggtt
ggtacagataaacttcgagtaactgggcctgaaggggctctttttgaacattcagtggag
acaccccttgtcagagccgacccgtttcaagaccttagattagaatcccccactcggagt
ctaagcatggatgccccaaggggtgtgcatattcaagctcacgctgggaaaattgaggcg
ctttctcaaatggatattctttttcatagtagtgatggaatgcttgtgcttgatgctgaa
actgtgtgcttacccaagctggtgcaggggacgtggggtccctctggcagctcacagagc
ctctacgaaatctgtgtgtgtccagatgggaagctgtacctgtctgtggccggtgtgagc
accacgtgccaggagcacaaccacatctgcctctga

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