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Espn Gene Detail
Summary
  • Symbol
    Espn
  • Name
    espin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1861630
    NCBI Gene: 56226
  • Alliance
    gene page
  • Transcription Start Sites
    17 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:152204788-152236828 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 82.90 cM, cytoband E1
  • Mapping Data
    10 experiments
Strain
Comparison
more
  • SNPs within 2kb
    136 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1861630
 protein coding gene Chr4:152204788-152236871 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029173
 protein coding gene Chr4:156220027-156252154 (-)
A/J MGP_AJ_G0029138
 protein coding gene Chr4:149661128-149701960 (-)
AKR/J MGP_AKRJ_G0029086
 protein coding gene Chr4:153735850-153770187 (-)
BALB/cJ MGP_BALBcJ_G0029154
 protein coding gene Chr4:150142958-150174810 (-)
C3H/HeJ MGP_C3HHeJ_G0028875
 protein coding gene Chr4:154304904-154338667 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029603
 protein coding gene Chr4:161814765-161851699 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0026849
 protein coding gene Chr4:142023265-142055303 (-)
CAST/EiJ MGP_CASTEiJ_G0028288
 protein coding gene Chr4:151647744-151686157 (-)
CBA/J MGP_CBAJ_G0028837
 protein coding gene Chr4:166629892-166662354 (-)
DBA/2J MGP_DBA2J_G0028986
 protein coding gene Chr4:149722360-149754335 (-)
FVB/NJ MGP_FVBNJ_G0028950
 protein coding gene Chr4:148877260-148912014 (-)
LP/J MGP_LPJ_G0029076
 protein coding gene Chr4:156135905-156170492 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0028977
 protein coding gene Chr4:169670615-169703153 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029635
 protein coding gene Chr4:154281022-154313121 (-)
PWK/PhJ MGP_PWKPhJ_G0028008
 protein coding gene Chr4:145793652-145827846 (-)
SPRET/EiJ MGP_SPRETEiJ_G0027842
 protein coding gene Chr4:148562074-148593973 (-)
WSB/EiJ MGP_WSBEiJ_G0028368
 protein coding gene Chr4:154446052-154491971 (-)



Homology
more
  • Human Ortholog
    ESPN, espin
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ESPN, espin
  • Synonyms
    DFNB36, LP2654, USH1M
  • Links
    NCBI Gene ID: 83715
    neXtProt AC: NX_B1AK53
    UniProt: B1AK53

  • Chr Location
    1p36.31; chr1:6424776-6461370 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ESPN 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
    57 phenotypes from 3 alleles in 11 genetic backgrounds
    2 phenotypes from multigenic genotypes
    33 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.
Homozygotes for a spontaneous mutation exhibit short and thin cochlear hair cell stereocilia, progressive degeneration of cochlear and vestibular hair cells, severe deafness, vestibular dysfunction, and poor mothering ability. Homozygotes lacking the long isoform show loss of staircase organization in extrastriolar vestibular hair bundles and thin vestibular stereocilia but no vestibular or hearing deficits.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    37
  • GO References
    18
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
non-membrane-bounded 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
    719
  • Tissues
    8
  • cDNA Data
    28
  • Literature Summary
    15
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000028943 Ensembl Gene Model | MGI Sequence Detail 32041 C57BL/6J ±  kb
    transcript ENSMUST00000207676 Ensembl | MGI Sequence Detail 4618 Not Applicable  
    polypeptide ENSMUSP00000147144 Ensembl | MGI Sequence Detail 1405 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 31
      Genomic 1
      cDNA 28
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-11524, MGI:96636
    References
    more
    • Summaries
      All 91
      Developmental Gene Expression 15
      Gene Ontology 18
      Phenotypes 33
    • 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:333262 Feng S, et al., hnRNPH1 establishes Sertoli-germ cell crosstalk through cooperation with PTBP1 and AR, and is essential for male fertility in mice. Development. 2023 Feb 15;150(3):dev201040
    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
    04/09/2024
    MGI 6.23     		The Jackson Laboratory