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Emd Gene Detail
Summary
  • Symbol
    Emd
  • Name
    emerin
  • Feature Type
    protein coding gene
  • IDs
    MGI:108117
    NCBI Gene: 13726
  • Alliance
    genome feature page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:73298293-73305154 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 37.92 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    203 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_108117
 protein coding gene ChrX:73298293-73305188 (+)
129S1/SvImJ ENSMUSG00200041512
 protein coding gene ChrX:55359023-55365884 (+)
A/J ENSMUSG00195030474
 protein coding gene ChrX:59034631-59041481 (+)
AKR/J ENSMUSG00220044204
 protein coding gene ChrX:54336950-54343800 (+)
BALB/cJ ENSMUSG00180049619
 protein coding gene ChrX:55615375-55622225 (+)
C3H/HeJ ENSMUSG00175029275
 protein coding gene ChrX:59199003-59205853 (+)
C57BL/6NJ ENSMUSG00215039513
 protein coding gene ChrX:55699562-55706424 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0033175
 protein coding gene ChrX:69302342-69308566 (+)
CAST/EiJ ENSTCUG00005038243
 protein coding gene ChrX:57112081-57119101 (+)
CBA/J ENSMUSG00210037270
 protein coding gene ChrX:55879674-55886524 (+)
DBA/2J ENSMUSG00185033966
 protein coding gene ChrX:68301405-68308256 (+)
FVB/NJ ENSMUSG00205030426
 protein coding gene ChrX:55180688-55187538 (+)
JF1/MsJ ENSUMUG00000036084
 protein coding gene ChrX:89036808-89043778 (+)
LP/J ENSMUSG00230032717
 protein coding gene ChrX:74881156-74888017 (+)
NOD/ShiLtJ ENSMUSG00190034134
 protein coding gene ChrX:55119637-55126487 (+)
NZO/HlLtJ ENSMUSG00225047681
 protein coding gene ChrX:80085555-80092416 (+)
PWK/PhJ ENSLUMG00010041444
 protein coding gene ChrX:54858192-54865181 (+)
SPRET/EiJ ENSMSPG00010032988
 protein coding gene ChrX:57943557-57949940 (+)
WSB/EiJ ENSIUOG00005048143
 protein coding gene ChrX:55947117-55953967 (+)



Homology
more
  • Human Ortholog
    EMD, emerin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    EMD, emerin
  • Synonyms
    CMD3C, EDMD, LEMD5, STA
  • Links
    NCBI Gene ID: 2010
    UniProt: P50402

  • Chr Location
    Xq28; chrX:154379244-154381574 (+)  GRCh38
Human Diseases
more
  • Diseases
    3 with human EMD associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    19 phenotypes from 3 alleles in 4 genetic backgrounds
    26 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.
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
    57
  • GO References
    13
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    664
  • Tissues
    8
  • cDNA Data
    78
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • 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
      Antibodies 3

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-37154, MGI:2148023
    References
    more
    • Summaries
      All 84
      Developmental Gene Expression 11
      Gene Ontology 13
      Phenotypes 26
    • 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:376296 Feng W, et al., ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes. PLoS Genet. 2025 Dec;21(12):e1011964
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory