Espnl MGI Mouse Gene Detail - MGI:2685402

Symbol

Espnl
Name

espin-like
Synonyms

LOC227357

Feature Type

protein coding gene
IDs

MGI:2685402
NCBI Gene: 227357
Alliance

gene page
Transcription Start Sites

5 TSS

Sequence Map

Chr1:91249797-91276028 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 46.08 cM
Mapping Data

1 experiment

SNPs within 2kb

927 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2685402	protein coding gene	Chr1:91249797-91277130 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016305	protein coding gene	Chr1:92863189-92890856 (+)
A/J	MGP_AJ_G0016286	protein coding gene	Chr1:89515339-89541703 (+)
AKR/J	MGP_AKRJ_G0016247	protein coding gene	Chr1:92176117-92202320 (+)
BALB/cJ	MGP_BALBcJ_G0016242	protein coding gene	Chr1:89702563-89728743 (+)
C3H/HeJ	MGP_C3HHeJ_G0016071	protein coding gene	Chr1:92395341-92424001 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016701	protein coding gene	Chr1:96424847-96452570 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014419	protein coding gene	Chr1:83772698-83800077 (+)
CAST/EiJ	MGP_CASTEiJ_G0015656	protein coding gene	Chr1:91740669-91768806 (+)
CBA/J	MGP_CBAJ_G0016047	protein coding gene	Chr1:99509542-99535411 (+)
DBA/2J	MGP_DBA2J_G0016150	protein coding gene	Chr1:88743439-88773580 (+)
FVB/NJ	MGP_FVBNJ_G0016149	protein coding gene	Chr1:87777062-87804101 (+)
LP/J	MGP_LPJ_G0016221	protein coding gene	Chr1:94021520-94048321 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016174	protein coding gene	Chr1:102752082-102779663 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016741	protein coding gene	Chr1:92200008-92226185 (+)
PWK/PhJ	MGP_PWKPhJ_G0015440	protein coding gene	Chr1:88159941-88186532 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015223	protein coding gene	Chr1:91123219-91149374 (+)
WSB/EiJ	MGP_WSBEiJ_G0015714	protein coding gene	Chr1:91997160-92023294 (+)

Human Ortholog

ESPNL, espin like

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ESPNL, espin like
Links

HGNC:27937

NCBI Gene ID: 339768

neXtProt AC: NX_Q6ZVH7

UniProt: Q6ZVH7
Chr Location

2q37.3; chr2:238100340-238133287 (+) GRCh38

MGI Vertebrate Homology

Espnl stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: ESPNL
Gene Tree

Espnl

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Phenotype Summary

8 phenotypes from 3 alleles in 2 genetic backgrounds
13 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

8
Chemically induced (other)

1
Endonuclease-mediated

3
Radiation induced

1
Targeted

3
Genomic Mutations

2 involving Espnl
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

30 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null allele exhibit high-frequency hearing loss and abnormal outer hair cell stereociliary bundle morphology, with the shortest row of stereocilia largely missing from the basal region, but no overt vestibular phenotype.

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All GO Annotations

9
GO References

3

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

713
Tissues

4
cDNA Data

5
Literature Summary

3

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

29
RefSeq

2
UniProt

2
CCDS

CCDS15160.1

Ensembl

ENSMUSG00000049515 (Evidence)
NCBI Gene

227357

			Length	Strain/Species	Flank
genomic	ENSMUSG00000049515	Ensembl Gene Model \| MGI Sequence Detail	26232	C57BL/6J	± kb
transcript	ENSMUST00000088904	Ensembl \| MGI Sequence Detail	5445	Not Applicable
polypeptide	ENSMUSP00000086294	Ensembl \| MGI Sequence Detail	1005	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000007203 espin-like protein

(term hierarchy)
InterPro Domains

IPR002110 Ankyrin repeat

IPR036770 Ankyrin repeat-containing domain superfamily

IPR052420 Espin and Espin-like domain-containing protein

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All nucleic 5

cDNA 5

Microarray probesets 1

Summaries

All 31

Developmental Gene Expression 3

Gene Ontology 3

Phenotypes 13
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

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

TSS for Espnl:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr8075	Chr1:91247940-91247954 (+)	-1,850 bp
Tssr8076	Chr1:91249827-91249836 (+)	35 bp
Tssr8077	Chr1:91249839-91249850 (+)	48 bp
Tssr8078	Chr1:91266373-91266394 (+)	16,587 bp
Tssr8079	Chr1:91266398-91266409 (+)	16,607 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 12/10/2024 MGI 6.24