Espn MGI Mouse Gene Detail - MGI:1861630

Symbol

Espn
Name

espin

Feature Type

protein coding gene
IDs

MGI:1861630
NCBI Gene: 56226
Alliance

gene page
Transcription Start Sites

17 TSS

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

SNPs within 2kb

856 from dbSNP Build 142
Strain Annotations

18
PCR

1

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
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 (-)

Human Ortholog

ESPN, espin

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ESPN, espin
Synonyms

DFNB36, LP2654, USH1M
Links

HGNC:13281

NCBI Gene ID: 83715

neXtProt AC: NX_B1AK53

UniProt: B1AK53
Chr Location

1p36.31; chr1:6424776-6461370 (+) GRCh38

MGI Vertebrate Homology

Espn stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate 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

57 phenotypes from 3 alleles in 11 genetic backgrounds
2 phenotypes from multigenic genotypes
34 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

14
Endonuclease-mediated

2
Gene trapped

2
Spontaneous

2
Targeted

8
Genomic Mutations

3 involving Espn
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

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.

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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	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	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

719
Tissues

8
cDNA Data

28
Literature Summary

15

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

GEO

Expression Atlas
Other Vertebrate Links

Xenbase espn

ZFIN espn

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All Sequences

109
RefSeq

20
UniProt

12
CCDS

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

Ensembl

ENSMUSG00000028943 (Evidence)
NCBI Gene

56226

			Length	Strain/Species	Flank
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

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UniProt

12 Sequences
Protein Ontology

PR:000007202 espin

(term hierarchy)
PDB

5ET0, 5ET1
InterPro Domains

IPR002110 Ankyrin repeat

IPR036770 Ankyrin repeat-containing domain superfamily

IPR052420 Espin and Espin-like domain-containing protein

IPR003124 WH2 domain

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All nucleic 31

Genomic 1

cDNA 28

Primer pair 2

Microarray probesets 3

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MGD-MRK-11524, MGI:96636

Summaries

All 92

Developmental Gene Expression 15

Gene Ontology 18

Phenotypes 34
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Espn:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr44823	Chr4:152236838-152236854 (-)	-18 bp
Tssr44822	Chr4:152223231-152223260 (-)	13,582 bp
Tssr44821	Chr4:152216854-152216872 (-)	19,965 bp
Tssr44820	Chr4:152216802-152216818 (-)	20,018 bp
Tssr44819	Chr4:152216330-152216343 (-)	20,491 bp
Tssr44818	Chr4:152216270-152216286 (-)	20,550 bp
Tssr44817	Chr4:152216244-152216258 (-)	20,577 bp
Tssr44816	Chr4:152216204-152216220 (-)	20,616 bp
Tssr44815	Chr4:152216146-152216166 (-)	20,672 bp
Tssr44814	Chr4:152215947-152215962 (-)	20,873 bp
Tssr44813	Chr4:152215915-152215943 (-)	20,899 bp
Tssr44812	Chr4:152215883-152215904 (-)	20,934 bp
Tssr44811	Chr4:152215867-152215877 (-)	20,956 bp
Tssr44810	Chr4:152215790-152215793 (-)	21,036 bp
Tssr44809	Chr4:152213315-152213355 (-)	23,493 bp
Tssr44807	Chr4:152205250-152205258 (-)	31,574 bp
Tssr44806	Chr4:152205110-152205127 (-)	31,709 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 11/12/2024 MGI 6.24