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

Alleles and phenotypes

All alleles(7) : Gene trapped(2) Spontaneous(1) Targeted(4)
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.

 

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 Type	Results
Immunohistochemistry	7

cDNA source data(27)
External Resources: GEO   ArrayExpress

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	TC1584345, TC1600605, TC1622620, TC1705656
DoTS	DT.101267467, DT.101381402, DT.101381407, DT.103560486, DT.110838101, DT.110838119, DT.50316097, DT.91378343, DT.94140202
NIA Mouse Gene Index	U025838
Consensus CDS Project	CCDS18989.1, CCDS18990.1, CCDS18991.1, CCDS18992.1, CCDS18993.1, CCDS18994.1
International Mouse Knockout Project Status	Espn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000010307	VEGA Gene Model | MGI Sequence Detail	32041	C57BL/6J
transcript	OTTMUST00000042507	VEGA | MGI Sequence Detail	3595	Not Applicable
polypeptide	OTTMUSP00000019102	VEGA | MGI Sequence Detail	881	Not Applicable

All sequences(141) RefSeq(26) UniProt(11)

Polymorphisms

PCR(1) : SNPs within 2kb(136 from dbSNP Build 137)

Protein-related information

Resource	ID	Description
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