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Eps8l2 Gene Detail
Summary
  • Symbol
    Eps8l2
  • Name
    EPS8-like 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2138828
    NCBI Gene: 98845
  • Gene Overview
    MyGene.info: EPS8L2
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr7:141338880-141363020 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      24141 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 86.66 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    EPS8L2, EPS8 like 2
  • Vertebrate Orthologs
    9
  • Human Ortholog
    EPS8L2, EPS8 like 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DFNB106, EPS8R2
  • Links
    NCBI Gene ID: 64787
    neXtProt AC: NX_Q9H6S3
    UniProt: Q9H6S3

  • Chr Location
    11p15.5; chr11:705217-727727 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human EPS8L2 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    1 phenotype from multigenic genotypes
    5 images
    11 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 null mutation display late onset progressive hearing loss and gradual deterioration of cochlear hair cell stereocilliary bundles.
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 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
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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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000024549 VEGA Gene Model | MGI Sequence Detail 24141 C57BL/6J ±  kb
    transcript OTTMUST00000060290 VEGA | MGI Sequence Detail 3191 Not Applicable  
    polypeptide OTTMUSP00000029403 VEGA | MGI Sequence Detail 729 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      43 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 106
      cDNA 104
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2142251
    References
    more
    • Summaries
      All 39
      Developmental Gene Expression 5
      Gene Ontology 6
      Phenotypes 11
    • Earliest
      J:65007 Cattanach BM, et al., Two imprinted gene mutations: three phenotypes. Hum Mol Genet. 2000 Sep 22;9(15):2263-73
    • Latest
      J:244562 Giese APJ, et al., CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. Nat Commun. 2017 Jun 29;8(1):43

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    10/16/2018
    MGI 6.12
    The Jackson Laboratory