Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: EMD (emerin) Homo sapiens
Analyze
Symbol: EMD
Name: emerin
Description: Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
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)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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

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

CRRD Object Information
CRRD ID: 735605
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE



NHLBI Logo

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