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Emd
Gene Detail
Symbol

Name
ID
Emd
emerin
MGI:108117
Feature Type
protein coding gene
Genetic Map
Chromosome X
37.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
ChrX:74254687-74261548 bp, + strand
From VEGA annotation of GRCm38

  6862 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:91  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

HCOP human homology predictions: EMD
Gene Tree: Emd

Human
homologs
EMD, emerin
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 2010
neXtProt AC: NX_P50402

Human Synonyms: EDMD, LEMD5, STA

Human Chr (Location): Xq28; chrX:154379237-154381523 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human EMD

Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Gene trapped(4) Targeted(3)
 
Mice homozygous for disruptions in this gene are generally indistiguishable from controls. However, lack of muscular coordination is reported for one allele along with development of vacuoles associated with the nuclear membrane of cardiac and skeletal muscle.
 
Interactions
Emd interacts with 119 markers (Mir10a, Mir10b, Mir25, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (3 records)
Data Summary: Results (56)    Tissues (5)    Images (43)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 56
cDNA source data(77)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase emd    NEW 
Molecular
reagents
All nucleic(82) Genomic(4) cDNA(78)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000017684 (Evidence)
Ensembl Gene Model ENSMUSG00000001964 (Evidence)
Entrez Gene 13726 (Evidence)
UniGene 18892
DFCI TC1692637, TC1673734, TC1666479, TC1576636
Consensus CDS Project CCDS30222.1
International Mouse Phenotyping Consortium Status Emd
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017684 VEGA Gene Model | MGI Sequence Detail 6862 C57BL/6J ±  kb
transcript OTTMUST00000042882 VEGA | MGI Sequence Detail 1595 Not Applicable 
polypeptide OTTMUSP00000019267 VEGA | MGI Sequence Detail 259 Not Applicable 

For the selected sequences
All sequences(53) RefSeq(4) UniProt(5)
Polymorphisms
SNPs within 2kb(27 from dbSNP Build 137)    SNPs within 2kb including multiple locations(33)
Protein-related
information
ResourceIDDescription
InterPro IPR003887 LEM domain
InterPro IPR011015 LEM/LEM-like domain
Protein Ontology PR:000007050 emerin
References
(Earliest) J:47956 Bione S, et al., Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec;8(4):323-7
(Latest) J:218095 Stubenvoll A, et al., Attenuation of Wnt/beta-catenin activity reverses enhanced generation of cardiomyocytes and cardiac defects caused by the loss of emerin. Hum Mol Genet. 2015 Feb 1;24(3):802-13
All references(49)
Other
accession IDs
MGD-MRK-37154, MGI:2148023

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory