Espn MGI Mouse Gene Detail - MGI:1861630

Espn Gene Detail

Symbol

Espn
Name

espin

Feature Type

protein coding gene
IDs

MGI:1861630
NCBI Gene: 56226
Gene Overview

MyGene.info: ESPN

Sequence Map

Chr4:152120331-152152371 bp, - strand
From VEGA annotation of GRCm38

Mouse Genome Browser
Download
Sequence

32041 bp ± kb flank
Genome Browsers

VEGA | Ensembl | UCSC | NCBI

Genetic Map

Chromosome 4, 82.90 cM, cytoband E1
Mapping Data

10 experiments

Human Ortholog

ESPN, espin

Vertebrate Orthologs

8

Human Ortholog

ESPN, espin
Orthology source: HomoloGene, HGNC
Synonyms

DFNB36, LP2654
Links

HGNC:13281

NCBI Gene ID: 83715

neXtProt AC: NX_B1AK53

UniProt: B1AK53
Chr Location

1p36.31; chr1:6424776-6461367 (+) GRCh38.p7

HomoloGene

Vertebrate Homology Class 23164
1 human;1 mouse;1 rat;1 chimpanzee;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
HCOP

human homology predictions: ESPN
Gene Tree

Espn

Diseases

1 with human ESPN associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness 36 IDs autosomal recessive nonsyndromic deafness 36 DOID:0110494 ICD10CM:H90.3 OMIM:609006

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

53 phenotypes from 2 alleles in 10 genetic backgrounds
2 phenotypes from multigenic genotypes
27 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

10
Gene trapped

2
Spontaneous

1
Targeted

7
Genomic Mutations

3 involving Espn
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

21 strains or lines available

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.

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All GO Annotations

31
GO References

15

External Resources

FuncBase

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

9
Tissues

5
cDNA Data

27
Literature Summary

9

Images

Tissue x Stage Matrix

Other Mouse Links

GEO

Expression Atlas

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Espn interacts with 125 markers (Mir7-1, Mir15a, Mir15b, ...) View All

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All Sequences

127
RefSeq

20
UniProt

12
CCDS

CCDS18989.1, CCDS18990.1, CCDS18991.1, CCDS18992.1, CCDS18993.1, CCDS18994.1
UniGene

264215

			Length	Strain/Species	Flank
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

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SNPs within 2kb

136 from dbSNP Build 142

PCR

1

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UniProt

12 Sequences
Protein Ontology

PR:000007202 espin

(term hierarchy)
PDB

5ET0, 5ET1
InterPro Domains

IPR002110 Ankyrin repeat

IPR020683 Ankyrin repeat-containing domain

IPR030233 Espin

IPR015943 WD40/YVTN repeat-like-containing domain

IPR003124 WH2 domain

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All nucleic 29

Genomic 1

cDNA 27

Primer pair 1

Microarray probesets 3

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MGD-MRK-11524, MGI:96636

Summaries

All 76

Developmental Gene Expression 9

Gene Ontology 15

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:236347 Ebrahim S, et al., Stereocilia-staircase spacing is influenced by myosin III motors and their cargos espin-1 and espin-like. Nat Commun. 2016 Mar 01;7:10833

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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