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Emd Gene Detail
Summary
  • Symbol
    Emd
  • Name
    emerin
  • Feature Type
    protein coding gene
  • IDs
    MGI:108117
    NCBI Gene: 13726
  • Gene Overview
    MyGene.info: EMD
Location & Maps
more
  • Sequence Map
    ChrX:74254687-74261548 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6862 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.92 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    EMD, emerin
  • Vertebrate Orthologs
    7
  • Human Ortholog
    EMD, emerin
    Orthology source: HomoloGene
  • Synonyms
    EDMD, LEMD5, STA
  • Links
    NCBI Gene ID: 2010
    neXtProt AC: NX_P50402

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

Human Diseases
more
  • Diseases
    1 with human EMD associations

Human Disease Mouse Models
       Emery-Dreifuss Muscular Dystrophy 1, X-Linked; EDMD1   OMIM: 310300
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    12 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and 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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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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 sequence
Polymorphisms
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  • SNPs within 2kb
    27 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 82
    Genomic 4
    cDNA 78

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-37154, MGI:2148023
References
more
  • Summaries
    All 48
    Developmental Gene Expression 3
    Gene Ontology 7
    Phenotypes 12
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory