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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: ESPN
Gene Tree: Espn

Human
homologs
ESPN, espin
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 83715
neXtProt AC: NX_B1AK53

Human Synonyms: DFNB36, LP2654

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

Disease Associations: (1) Diseases Associated with Human ESPN

Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(2) Spontaneous(1) Targeted(7)
Genomic Mutations involving Espn (3)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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: (26 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: (8 records)
Data Summary: Results (7)    Tissues (4)    Images (2)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 7
cDNA source data(27)
Other mouse links: GEO   Expression Atlas
Other vertebrate links: Xenbase espn    NEW 
Molecular
reagents
All nucleic(29) Genomic(1) cDNA(27) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000010307 (Evidence)
Ensembl Gene Model ENSMUSG00000028943 (Evidence)
Entrez Gene 56226 (Evidence)
UniGene 264215
DFCI TC1622620, TC1600605, TC1584345, TC1705656
DoTS DT.101267467, DT.101381402, DT.110838119, DT.101381407, DT.110838101, DT.103560486, DT.91378343, DT.94140202, DT.50316097
NIA Mouse Gene Index U025838
Consensus CDS Project CCDS18989.1, CCDS18990.1, CCDS18991.1, CCDS18992.1, CCDS18993.1, CCDS18994.1
International Mouse Phenotyping Consortium Status Espn
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(136) RefSeq(20) 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: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
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
06/23/2015
MGI 5.22
The Jackson Laboratory