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Espn Gene Detail
Summary
  • Symbol
    Espn
  • Name
    espin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1861630
    NCBI Gene: 56226
  • Gene Overview
    MyGene.info: ESPN
Location & Maps
more
  • Sequence Map
    Chr4:152120331-152152371 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      32041 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 82.90 cM, cytoband E1
  • Detailed Genetic Map ± 1 cM
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    ESPN, espin
  • Vertebrate Orthologs
    8
  • Human Ortholog
    ESPN, espin
    Orthology source: HGNC, HomoloGene
  • Synonyms
    DFNB36, LP2654
  • Links
    NCBI Gene ID: 83715
    neXtProt AC: NX_B1AK53

  • Chr Location
    1p36.31; chr1:6424776-6460944 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human ESPN associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 36, with or without Vestibular Involvement;   OMIM: 609006
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 2 alleles in 10 genetic backgrounds
    2 phenotypes from multigenic genotypes
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    10
  • Gene trapped
    2
  • Spontaneous
    1
  • Targeted
    7
  • Genomic Mutations
    3 involving Espn
  • Incidental Mutations
Homozygotes for a spontaneous mutation exhibit progressive degeneration of both inner and outer hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Heterozygotes show a progressive, age-related hearing loss.
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 OTTMUSG00000010307 VEGA Gene Model | MGI Sequence Detail 32041 C57BL/6J ±  kb
transcript OTTMUST00000145997 VEGA | MGI Sequence Detail 4618 Not Applicable  
polypeptide OTTMUSP00000076078 VEGA | MGI Sequence Detail 1405 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    136 from dbSNP Build 142
  • PCR
Protein
Information
less
Molecular
Reagents
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  • All nucleic 29
    Genomic 1
    cDNA 27
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-11524, MGI:96636
References
more
  • Summaries
    All 70
    Developmental Gene Expression 8
    Gene Ontology 12
    Phenotypes 27
  • Earliest
    J:13121 Gruneberg H, et al., The origin of jerker, a new gene mutation of the house mouse, and linkage studies made with it. Proc Natl Acad Sci U S A. 1941 Dec 15;27(12):562-565
  • Latest
    J:220472 Zhao L, et al., Female-to-male sex reversal in mice caused by transgenic overexpression of Dmrt1. Development. 2015 Mar 15;142(6):1083-8

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
05/24/2016
MGI 6.04
The Jackson Laboratory