KEGG   Homo sapiens (human): 2010
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
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
Network
  Element
N00330  BANF1-mediated nuclear assembly
Disease
H00563  Emery-Dreifuss muscular dystrophy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09160 Human Diseases
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    2010 (EMD)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    2010 (EMD)
   05414 Dilated cardiomyopathy
    2010 (EMD)
SSDB
Motif
Pfam: LEM
Other DBs
NCBI-GeneID: 2010
NCBI-ProteinID: NP_000108
OMIM: 300384
HGNC: 3331
Ensembl: ENSG00000102119
Vega: OTTHUMG00000033186
Pharos: P50402(Tbio)
UniProt: P50402
LinkDB
Structure
PDB: 
6GHD 2ODC 2ODG

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

DBGET integrated database retrieval system