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Espn
Gene Detail
 Symbol
Name
ID
Espn
espin
MGI:1861630
Feature Type protein coding gene
Genetic Map
Chromosome 4
82.90 cM, cytoband E1
Detailed Genetic Map ± 1 cM


Mapping data(10)
Sequence Map
Chr4:152120331-152152371 bp, - strand
From VEGA annotation of GRCm38

  32041 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:23164  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Espn

Human
homologs
Human Homolog ESPN, espin
NCBI Gene ID 83715
neXtProt AC  NX_B1AK53
Human Synonyms  DFNB36
Human Chr (Location)  1p36.31; chr1:6424776-6460944 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human ESPN
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(2) Spontaneous(1) Targeted(6)
Genomic Mutations involving Espn (2)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Interactions
Espn interacts with 125 markers (Mir7-1, Mir15a, Mir15b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (25 annotations)
Process actin filament bundle assembly, actin filament network formation, ...
Component actin cytoskeleton, brush border, ...
Function actin binding, actin filament binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (7)    Tissues (4)    Images (2)
Theiler Stages: 17, 28
Assay TypeResults
Immunohistochemistry 7
cDNA source data(27)
External Resources: GEO   Expression Atlas
Molecular
reagents
All nucleic(29) Genomic(1) cDNA(27) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000010307 (Evidence)
Ensembl Gene ModelENSMUSG00000028943 (Evidence)
Entrez Gene56226 (Evidence)
UniGene264215
DFCITC1584345, TC1600605, TC1622620, TC1705656
DoTSDT.101267467, DT.101381402, DT.101381407, DT.103560486, DT.110838101, DT.110838119, DT.50316097, DT.91378343, DT.94140202
NIA Mouse Gene IndexU025838
Consensus CDS ProjectCCDS18989.1, CCDS18990.1, CCDS18991.1, CCDS18992.1, CCDS18993.1, CCDS18994.1
International Mouse Knockout Project StatusEspn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000010307 VEGA Gene Model | MGI Sequence Detail 32041 C57BL/6J ±  kb
transcript OTTMUST00000042507 VEGA | MGI Sequence Detail 3595 Not Applicable 
polypeptide OTTMUSP00000019102 VEGA | MGI Sequence Detail 881 Not Applicable 

For the selected sequences
All sequences(141) RefSeq(26) UniProt(11)
Polymorphisms PCR(1) : SNPs within 2kb(136 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002110 Ankyrin repeat
InterPro IPR020683 Ankyrin repeat-containing domain
InterPro IPR003124 WH2 domain
Protein Ontology PR:000007202 espin
References (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:185195 Smith LB, et al., KATNAL1 Regulation of Sertoli Cell Microtubule Dynamics Is Essential for Spermiogenesis and Male Fertility. PLoS Genet. 2012 May;8(5):e1002697
All references(72)
Other
accession IDs
MGD-MRK-11524, MGI:96636

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
08/12/2014
MGI 5.19
The Jackson Laboratory