KEGG   Homo sapiens (human): 6444
Entry
6444              CDS       T01001                                 

Gene name
SGCD, 35DAG, CMD1L, DAGD, LGMDR6, SG-delta, SGCDP, SGD
Definition
(RefSeq) sarcoglycan delta
  KO
K12563  delta-sarcoglycan
Organism
hsa  Homo sapiens (human)
Pathway
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
hsa05416  Viral myocarditis
Disease
H00294  Dilated cardiomyopathy
H00565  Sarcoglycanopathies
H00593  Limb-girdle muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    6444 (SGCD)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    6444 (SGCD)
   05414 Dilated cardiomyopathy
    6444 (SGCD)
   05416 Viral myocarditis
    6444 (SGCD)
Motif
Pfam: Sarcoglycan_1 DUF2345
Other DBs
NCBI-GeneID: 6444
NCBI-ProteinID: NP_001121681
OMIM: 601411
HGNC: 10807
Ensembl: ENSG00000170624
Vega: OTTHUMG00000163445
Pharos: Q92629(Tbio)
UniProt: Q92629
Position
5q33.2-q33.3
AA seq 289 aa
MPQEQYTHHRSTMPGSVGPQVYKVGIYGWRKRCLYFFVLLLMILILVNLAMTIWILKVMN
FTIDGMGNLRITEKGLKLEGDSEFLQPLYAKEIQSRPGNALYFKSARNVTVNILNDQTKV
LTQLITGPKAVEAYGKKFEVKTVSGKLLFSADNNEVVVGAERLRVLGAEGTVFPKSIETP
NVRADPFKELRLESPTRSLVMEAPKGVEINAEAGNMEATCRTELRLESKDGEIKLDAAKI
RLPRLPHGSYTPTGTRQKVFEICVCANGRLFLSQAGAGSTCQINTSVCL
NT seq 870 nt   +upstreamnt  +downstreamnt
atgcctcaggagcagtacactcaccaccggagcaccatgcctggctctgtggggccacag
gtatacaaggtggggatttatggctggcggaaacgatgcctgtatttctttgtcctgctc
ctcatgattttaatactggtgaacttggccatgaccatctggattctcaaagtcatgaac
ttcacaattgatggaatgggaaacctgaggatcacagaaaaaggtctaaagctagaagga
gactctgaattcttacaacctctctacgccaaagaaatccagtcccgaccaggtaatgcc
ctgtacttcaagtctgccagaaatgttacagtgaacattctcaatgaccagactaaagtg
ctaactcagcttataacaggtccaaaagccgtagaagcttatggtaaaaaatttgaggta
aaaactgtttctggaaaattgctcttctctgcagacaataatgaagtggtagtaggagct
gaaagattacgagttttaggagcggagggcacagtgttccctaaatctatagaaacacct
aatgtcagggcagaccccttcaaagaactaaggttggagtccccaacccggtctctagtg
atggaggccccaaaaggagtggaaatcaatgcagaagctggcaatatggaagccacctgc
aggacagagctgagactggaatccaaagatggagagattaagttagatgctgcgaaaatc
aggctacctagactgcctcatggatcctacacgcctacaggaacgaggcagaaggtcttc
gagatctgcgtctgcgccaatgggagattattcctgtctcaggcaggagctgggtccact
tgtcagataaacacaagtgtctgcctctga

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