KEGG   Homo sapiens (human): 2010Help
Entry
2010              CDS       T01001                                 

Gene name
EMD, EDMD, LEMD5, STA
Definition
(RefSeq) emerin
  KO
K12569  emerin
Organism
hsa  Homo sapiens (human)
Pathway
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Network
N00330  BANF1-mediated nuclear assembly
Disease
H00563  Emery-Dreifuss muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09165 Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    2010 (EMD)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    2010 (EMD)
   05414 Dilated cardiomyopathy (DCM)
    2010 (EMD)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: LEM DotU
Motif
Other DBs
NCBI-GeneID: 2010
NCBI-ProteinID: NP_000108
OMIM: 300384
HGNC: 3331
Ensembl: ENSG00000102119
Vega: OTTHUMG00000033186
Pharos: P50402(Tbio)
UniProt: P50402
Structure
PDB: 

Position
Xq28
AA seq 254 aa AA seqDB search
MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYS
FSDLNSTRGDADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQS
VTSFPDADAFHHQVHDDDLLSSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLS
YYPTSSSTSFMSSSSSSSSWLTRRAIRPENRAPGAGLGQDRQVPLWGQLLLFLVFVIVLF
FIYHFMQAEEGNPF
NT seq 765 nt NT seq  +upstreamnt  +downstreamnt
atggacaactacgcagatctttcggataccgagctgaccaccttgctgcgccggtacaac
atcccgcacgggcctgtagtaggatcaactcgtaggctttacgagaagaagatcttcgag
tacgagacccagaggcggcggctctcgccccccagctcgtccgccgcctcctcttatagc
ttctctgacttgaattcgactagaggggatgcagatatgtatgatcttcccaagaaagag
gacgctttactctaccagagcaagggctacaatgacgactactatgaagagagctacttc
accaccaggacttatggggagcccgagtctgccggcccgtccagggctgtccgccagtca
gtgacttcattcccagatgctgacgctttccatcaccaggtgcatgatgacgatcttttg
tcttcttctgaagaggagtgcaaggatagggaacgccccatgtacggccgggacagtgcc
taccagagcatcacgcactaccgccctgtttcagcctccaggagctccctggacctgtcc
tattatcctacttcctcctccacctcttttatgtcctcctcatcatcttcctcttcatgg
ctcacccgccgtgccatccggcctgaaaaccgtgctcctggggctgggctgggccaggat
cgccaggtcccgctctggggccagctgctgcttttcctggtctttgtgatcgtcctcttc
ttcatttaccacttcatgcaggctgaagaaggcaaccccttctag

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