Eps8l2 MGI Mouse Gene Detail - MGI:2138828

Symbol

Eps8l2
Name

EPS8-like 2

Feature Type

protein coding gene
IDs

MGI:2138828
NCBI Gene: 98845
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr7:140918824-140942933 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 7, 86.66 cM
Mapping Data

2 experiments

SNPs within 2kb

604 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2138828	protein coding gene	Chr7:140918793-140942933 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0033225	protein coding gene	Chr7:146523426-146549216 (+)
A/J	MGP_AJ_G0033207	protein coding gene	Chr7:142332082-142355907 (+)
AKR/J	MGP_AKRJ_G0033139	protein coding gene	Chr7:146261229-146287240 (+)
BALB/cJ	MGP_BALBcJ_G0033208	protein coding gene	Chr7:142077171-142101069 (+)
C3H/HeJ	MGP_C3HHeJ_G0032922	protein coding gene	Chr7:146020296-146046807 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0033719	protein coding gene	Chr7:151876192-151901175 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0030692	protein coding gene	Chr7:143546056-143568491 (+)
CAST/EiJ	MGP_CASTEiJ_G0032252	protein coding gene	Chr7:138322410-138346063 (+)
CBA/J	MGP_CBAJ_G0032894	protein coding gene	Chr7:157006285-157051773 (+)
DBA/2J	MGP_DBA2J_G0033046	protein coding gene	Chr7:140279409-140303585 (+)
FVB/NJ	MGP_FVBNJ_G0032999	protein coding gene	Chr7:140193297-140218185 (+)
LP/J	MGP_LPJ_G0033141	protein coding gene	Chr7:148018591-148044700 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0033032	protein coding gene	Chr7:157665973-157693559 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0033739	protein coding gene	Chr7:145235509-145259478 (+)
PWK/PhJ	MGP_PWKPhJ_G0031956	protein coding gene	Chr7:133560643-133584636 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0031803	protein coding gene	Chr7:132058304-132084053 (+)
WSB/EiJ	MGP_WSBEiJ_G0032363	protein coding gene	Chr7:146181306-146208985 (+)

Human Ortholog

EPS8L2, EPS8 signaling adaptor L2

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPS8L2, EPS8 signaling adaptor L2
Synonyms

DFNB106, EPS8R2
Links

HGNC:21296

NCBI Gene ID: 64787

neXtProt AC: NX_Q9H6S3

UniProt: Q9H6S3
Chr Location

11p15.5; chr11:694438-727727 (+) GRCh38

MGI Vertebrate Homology

Eps8l2 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: EPS8L2
Gene Tree

Eps8l2

Diseases

1 with human EPS8L2 associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness 106 IDs autosomal recessive nonsyndromic deafness 106 DOID:0080261 OMIM:617637

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

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Phenotype Summary

25 phenotypes from 2 alleles in 2 genetic backgrounds
1 phenotype from multigenic genotypes
5 images
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

48
Gene trapped

43
Radiation induced

1
Targeted

4
Genomic Mutations

1 involving Eps8l2
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

38 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for a null mutation display late onset progressive hearing loss and gradual deterioration of cochlear hair cell stereocilliary bundles.

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All GO Annotations

28
GO References

5

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

1048
Tissues

102
cDNA Data

104
Literature Summary

7

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA EPS8L2

Xenbase eps8l2

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All Sequences

46
RefSeq

3
UniProt

2
CCDS

CCDS22009.1

Ensembl

ENSMUSG00000025504 (Evidence)
NCBI Gene

98845

			Length	Strain/Species	Flank
genomic	98845	NCBI Gene Model \| MGI Sequence Detail	24110	C57BL/6J	± kb
transcript	NM_133191	RefSeq \| MGI Sequence Detail	3090	C57BL/6
polypeptide	Q99K30	UniProt \| EBI \| MGI Sequence Detail	729	Not Applicable

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UniProt

2 Sequences
Protein Ontology

PR:000007149 epidermal growth factor receptor kinase substrate 8-like protein 2

(term hierarchy)
InterPro Domains

IPR039801 Epidermal growth factor receptor kinase substrate 8-like

IPR033928 Epidermal growth factor receptor kinase substrate, phosphotyrosine-binding domain

IPR035462 Eps8, SH3 domain

IPR011993 PH-like domain superfamily

IPR006020 PTB/PI domain

IPR041418 SAM domain

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR013761 Sterile alpha motif/pointed domain superfamily

IPR013625 Tensin/EPS8 phosphotyrosine-binding domain
GlyGen

Q99K30 1 site, 1 N-linked glycan (1 site)

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All nucleic 106

cDNA 104

Primer pair 1

Other 1

Microarray probesets 3

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MGI:2142251

Summaries

All 41

Developmental Gene Expression 7

Gene Ontology 5

Phenotypes 13
Earliest

J:65007 Cattanach BM, et al., Two imprinted gene mutations: three phenotypes. Hum Mol Genet. 2000 Sep 22;9(15):2263-73
Latest

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

TSS for Eps8l2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr69949	Chr7:140918852-140918863 (+)	34 bp
Tssr69950	Chr7:140918876-140918926 (+)	77 bp
Tssr69951	Chr7:140921970-140921987 (+)	3,155 bp
Tssr69952	Chr7:140936028-140936042 (+)	17,211 bp
Tssr69953	Chr7:140936055-140936067 (+)	17,237 bp
Tssr69954	Chr7:140940121-140940143 (+)	21,308 bp
Tssr69955	Chr7:140940149-140940160 (+)	21,331 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)
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