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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
  • Alliance
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:74254687-74261548 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 37.92 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    27 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108117
protein coding gene ChrX:74254672-74261563 (.)
129S1/SvImJ MGP_129S1SvImJ_G0035835
protein coding gene ChrX:70045326-70052243 (+)
A/J MGP_AJ_G0035816
protein coding gene ChrX:70239284-70246079 (+)
AKR/J MGP_AKRJ_G0035741
protein coding gene ChrX:72136586-72143839 (+)
BALB/cJ MGP_BALBcJ_G0035801
protein coding gene ChrX:69263073-69270208 (+)
C3H/HeJ MGP_C3HHeJ_G0035506
protein coding gene ChrX:70523813-70534968 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036331
protein coding gene ChrX:72211103-72217421 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033175
protein coding gene ChrX:69302342-69308566 (+)
CAST/EiJ MGP_CASTEiJ_G0034797
protein coding gene ChrX:55898315-55904678 (+)
CBA/J MGP_CBAJ_G0035481
protein coding gene ChrX:74203752-74210061 (+)
DBA/2J MGP_DBA2J_G0035638
protein coding gene ChrX:69694250-69701118 (+)
FVB/NJ MGP_FVBNJ_G0035582
protein coding gene ChrX:69040983-69047011 (+)
LP/J MGP_LPJ_G0035723
protein coding gene ChrX:70829573-70835739 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035620
protein coding gene ChrX:76764937-76772683 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036353
protein coding gene ChrX:69869752-69876589 (+)
PWK/PhJ MGP_PWKPhJ_G0034496
protein coding gene ChrX:53868965-53875345 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034330
protein coding gene ChrX:56775672-56782027 (+)
WSB/EiJ MGP_WSBEiJ_G0034938
protein coding gene ChrX:69145810-69152119 (+)



Homology
more
  • Human Ortholog
    EMD, emerin
  • Vertebrate Orthologs
    7
  • Human Ortholog
    EMD, emerin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EDMD, LEMD5, STA
  • Links
    NCBI Gene ID: 2010
    neXtProt AC: NX_P50402
    UniProt: P50402

  • Chr Location
    Xq28; chrX:154379237-154381523 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human EMD associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    14 phenotypes from 2 alleles in 3 genetic backgrounds
    15 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000001964 Ensembl Gene Model | MGI Sequence Detail 6862 C57BL/6J ±  kb
    transcript ENSMUST00000002029 Ensembl | MGI Sequence Detail 1595 Not Applicable  
    polypeptide ENSMUSP00000002029 Ensembl | MGI Sequence Detail 259 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 83
      Genomic 4
      cDNA 79

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37154, MGI:2148023
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 5
      Gene Ontology 10
      Phenotypes 15
    • 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:265671 Gorelik A, et al., Complement C3 Affects Rac1 Activity in the Developing Brain. Front Mol Neurosci. 2018;11:150

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory