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Epm2aip1 Gene Detail
Summary
  • Symbol
    Epm2aip1
  • Name
    EPM2A (laforin) interacting protein 1
  • Synonyms
    A930003G21Rik, mKIAA0766
  • Feature Type
    protein coding gene
  • IDs
    MGI:1925031
    NCBI Gene: 77781
  • Alliance
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:111271929-111279093 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 60.92 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    113 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1925031
protein coding gene Chr9:111271845-111279093 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035372
protein coding gene Chr9:113504682-113511841 (+)
A/J MGP_AJ_G0035353
protein coding gene Chr9:109347906-109355066 (+)
AKR/J MGP_AKRJ_G0035284
protein coding gene Chr9:112077089-112084251 (+)
BALB/cJ MGP_BALBcJ_G0035348
protein coding gene Chr9:109097080-109104242 (+)
C3H/HeJ MGP_C3HHeJ_G0035056
protein coding gene Chr9:112575708-112582870 (+)
C57BL/6NJ MGP_C57BL6NJ_G0035870
protein coding gene Chr9:116614002-116621166 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032756
protein coding gene Chr9:106550670-106557866 (+)
CAST/EiJ MGP_CASTEiJ_G0034362
protein coding gene Chr9:112374850-112382020 (+)
CBA/J MGP_CBAJ_G0035023
protein coding gene Chr9:120921218-120928377 (+)
DBA/2J MGP_DBA2J_G0035182
protein coding gene Chr9:108796216-108803378 (+)
FVB/NJ MGP_FVBNJ_G0035129
protein coding gene Chr9:107636997-107644159 (+)
LP/J MGP_LPJ_G0035261
protein coding gene Chr9:113774807-113781966 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035169
protein coding gene Chr9:122213410-122220572 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0035890
protein coding gene Chr9:112425849-112433013 (+)
PWK/PhJ MGP_PWKPhJ_G0034069
protein coding gene Chr9:109050455-109057614 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033904
protein coding gene Chr9:112517398-112524577 (+)
WSB/EiJ MGP_WSBEiJ_G0034483
protein coding gene Chr9:112285857-112293021 (+)



Homology
more
  • Human Ortholog
    EPM2AIP1, EPM2A interacting protein 1
  • Vertebrate Orthologs
    7
  • Human Ortholog
    EPM2AIP1, EPM2A interacting protein 1
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 9852
    neXtProt AC: NX_Q7L775
    UniProt: Q7L775

  • Chr Location
    3p22.2; chr3:36985866-36993304 (-)  GRCh38.p7

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 1 genetic background
    2 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 a gene trapped allele exhibit increased anxiety-related response, decreased liver glycogen storage and synthesis, hepatic steatosis, improved glucose tolerance and decreased hepatic insulin resistance.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population 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
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000046785 Ensembl Gene Model | MGI Sequence Detail 7165 C57BL/6J ±  kb
    transcript ENSMUST00000135807 Ensembl | MGI Sequence Detail 4245 Not Applicable  
    polypeptide ENSMUSP00000120245 Ensembl | MGI Sequence Detail 606 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 134
      cDNA 134

      Microarray probesets 7
    References
    more
    • Summaries
      All 29
      Developmental Gene Expression 3
      Gene Ontology 5
      Phenotypes 2
    • Earliest
      J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
    • Latest
      J:262451 Nitschke F, et al., Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease. EMBO Mol Med. 2017 Jul;9(7):906-917

    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
    03/19/2019
    MGI 6.13
    The Jackson Laboratory