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Gene: EMD (emerin) Homo sapiens
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Symbol: EMD
Name: emerin
Description: Exhibits actin binding activity and beta-tubulin binding activity. Involved in several processes, including negative regulation of canonical Wnt signaling pathway; negative regulation of fibroblast proliferation; and positive regulation of protein export from nucleus. Localizes to the endoplasmic reticulum; nuclear membrane; and nucleoplasm. Colocalizes with the cortical endoplasmic reticulum and spindle pole centrosome. Implicated in Emery-Dreifuss muscular dystrophy; X-linked Emery-Dreifuss muscular dystrophy 1; and dilated cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: EDMD; emerin (Emery-Dreifuss muscular dystrophy); LEM domain containing 5; LEMD5; STA
Orthologs:
Mus musculus (house mouse) : Emd (emerin)  MGI  Alliance
Rattus norvegicus (Norway rat) : Emd (emerin)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Emd (emerin)
Pan paniscus (bonobo/pygmy chimpanzee) : EMD (emerin)
Canis lupus familiaris (dog) : EMD (emerin)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Emd (emerin)
Sus scrofa (pig) : EMD (emerin)
Chlorocebus sabaeus (green monkey) : EMD (emerin)
Heterocephalus glaber (naked mole-rat) : Emd (emerin)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 EnsemblX154,379,273 - 154,381,523 (+)Ensembl
GRCh38 EnsemblX154,379,197 - 154,381,523 (+)Ensembl
GRCh38X154,379,236 - 154,381,523 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,607,597 - 153,609,883 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X153,260,981 - 153,263,075 (+)NCBINCBI36hg18NCBI36
Build 34X153,128,633 - 153,130,728NCBI
CeleraX153,768,677 - 153,770,963 (+)NCBI
Cytogenetic MapXq28NCBI
HuRefX142,185,074 - 142,187,360 (+)NCBIHuRef
CHM1_1X153,519,221 - 153,521,507 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on EMD
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735605
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.