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
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy
Disease
H00563  
Emery-Dreifuss muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Human Diseases
  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: 
Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
Pharos: 
P50402(Tbio)
UniProt: 
Structure
PDB: 

Jmol
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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