About   Help   FAQ
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

Gene Tree: Emd

Human
homologs
Human Homolog EMD, emerin
NCBI Gene ID 2010
neXtProt AC  NX_P50402
Human Synonyms  EDMD, LEMD5, STA
Human Chr (Location)  Xq28; chrX:154379237-154381523 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human EMD
Alleles
and
phenotypes
All alleles(7) : Targeted(3) Gene trapped(4)
 
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.
 
Gene Ontology
(GO)
classifications
All GO classifications: (23 annotations)
Process cellular response to growth factor stimulus, negative regulation of catenin import into nucleus, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function actin binding, beta-tubulin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (56)    Tissues (5)    Images (43)
Theiler Stages: 23
Assay TypeResults
RNA in situ 56
cDNA source data(77)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(82) Genomic(4) cDNA(78)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000017684 (Evidence)
Ensembl Gene ModelENSMUSG00000001964 (Evidence)
Entrez Gene13726 (Evidence)
UniGene18892
DFCITC1576636, TC1666479, TC1673734, TC1692637
Consensus CDS ProjectCCDS30222.1
International Mouse Knockout Project StatusEmd
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(51) RefSeq(2) 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:198746 Ho CY, et al., Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics. Nature. 2013 May 23;497(7450):507-11
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
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/08/2014
MGI 5.17
The Jackson Laboratory