Eps8 MGI Mouse Gene Detail - MGI:104684 - epidermal growth factor receptor pathway substrate 8

Symbol

Eps8
Name

epidermal growth factor receptor pathway substrate 8

Feature Type

protein coding gene
IDs

MGI:104684
NCBI Gene: 13860
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

Chr6:137454242-137626262 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 6, 66.78 cM
Mapping Data

2 experiments

SNPs within 2kb

5828 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_104684	protein coding gene	Chr6:137454242-137631874 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0031436	protein coding gene	Chr6:142019196-142209675 (-)
A/J	MGP_AJ_G0031411	protein coding gene	Chr6:136424499-136602469 (-)
AKR/J	MGP_AKRJ_G0031339	protein coding gene	Chr6:140577907-140755524 (-)
BALB/cJ	MGP_BALBcJ_G0031418	protein coding gene	Chr6:136271591-136450332 (-)
C3H/HeJ	MGP_C3HHeJ_G0031140	protein coding gene	Chr6:140591925-140771466 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0031880	protein coding gene	Chr6:145854983-146047285 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0029009	protein coding gene	Chr6:135467790-135647682 (-)
CAST/EiJ	MGP_CASTEiJ_G0030508	protein coding gene	Chr6:140085483-140268056 (-)
CBA/J	MGP_CBAJ_G0031100	protein coding gene	Chr6:151407161-151609378 (-)
DBA/2J	MGP_DBA2J_G0031257	protein coding gene	Chr6:135278894-135459091 (-)
FVB/NJ	MGP_FVBNJ_G0031208	protein coding gene	Chr6:134150856-134331537 (-)
LP/J	MGP_LPJ_G0031341	protein coding gene	Chr6:142143245-142328312 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0031248	protein coding gene	Chr6:155223211-155418100 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0031912	protein coding gene	Chr6:140295933-140480277 (-)
PWK/PhJ	MGP_PWKPhJ_G0030235	protein coding gene	Chr6:133756908-133938232 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0030059	protein coding gene	Chr6:138544558-138723062 (-)
WSB/EiJ	MGP_WSBEiJ_G0030601	protein coding gene	Chr6:140941477-141128087 (-)

Human Ortholog

EPS8, EGFR pathway substrate 8, signaling adaptor

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

EPS8, EGFR pathway substrate 8, signaling adaptor
Synonyms

DFNB102
Links

HGNC:3420

NCBI Gene ID: 2059

neXtProt AC: NX_Q12929

UniProt: Q12929
Chr Location

12p12.3; chr12:15620134-15882329 (-) GRCh38

MGI Vertebrate Homology

Eps8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: EPS8
Gene Tree

Eps8

Diseases

1 with human EPS8 associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness 102 IDs autosomal recessive nonsyndromic deafness 102 DOID:0110463 ICD10CM:H90.3 OMIM:615974

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

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Phenotype Summary

9 phenotypes from 1 allele in 3 genetic backgrounds
1 phenotype from multigenic genotypes
1 images
24 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

57
Endonuclease-mediated

3
Gene trapped

50
Targeted

4
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

123 strains or lines available

Homozygous mutation of this gene results in resistance to some of the intoxicating effects of ethanol and increased ethanol consumption. NMDA receptor currents and their sensitivity to inhibition by ethanol are abnormal.

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All GO Annotations

56
GO References

21

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

1002
Tissues

141
cDNA Data

16
Literature Summary

13

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

GEISHA EPS8

Xenbase eps8

ZFIN eps8a

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All Sequences

95
RefSeq

24
UniProt

9
CCDS

CCDS20665.1

Ensembl

ENSMUSG00000015766 (Evidence)
NCBI Gene

13860

			Length	Strain/Species	Flank
genomic	13860	NCBI Gene Model \| MGI Sequence Detail	172021	C57BL/6J	± kb
transcript	NM_001271595	RefSeq \| MGI Sequence Detail	4603	ZRU/MplStud
polypeptide	Q08509	UniProt \| EBI \| MGI Sequence Detail	821	Not Applicable

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UniProt

9 Sequences
Protein Ontology

PR:000007147 epidermal growth factor receptor kinase substrate 8

(term hierarchy)
PDB

1AOJ, 1I07, 1I0C
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

Q08509 5 sites, 3 N-linked glycans (4 sites), 1 O-linked glycan (1 site)

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All nucleic 18

cDNA 16

Primer pair 1

Other 1

Microarray probesets 5

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MGD-MRK-27047, MGI:2141675

Summaries

All 77

Developmental Gene Expression 13

Gene Ontology 21

Phenotypes 24
Earliest

J:34029 Fazioli F, et al., Eps8, a substrate for the epidermal growth factor receptor kinase, enhances EGF-dependent mitogenic signals. EMBO J. 1993 Oct;12(10):3799-808
Latest

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

TSS for Eps8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr63901	Chr6:137626209-137626292 (-)	11 bp
Tssr63900	Chr6:137626176-137626190 (-)	79 bp
Tssr63899	Chr6:137607279-137607280 (-)	18,982 bp
Tssr63898	Chr6:137548036-137548052 (-)	78,218 bp
Tssr63897	Chr6:137548005-137548030 (-)	78,244 bp
Tssr63896	Chr6:137547810-137547829 (-)	78,442 bp
Tssr63895	Chr6:137547783-137547806 (-)	78,467 bp
Tssr63894	Chr6:137547744-137547758 (-)	78,511 bp
Tssr63893	Chr6:137540570-137540575 (-)	85,689 bp
Tssr63892	Chr6:137514780-137514793 (-)	111,475 bp
Tssr63891	Chr6:137514761-137514774 (-)	111,494 bp
Tssr63890	Chr6:137514657-137514676 (-)	111,595 bp
Tssr63889	Chr6:137496878-137496898 (-)	129,374 bp
Tssr63888	Chr6:137496869-137496874 (-)	129,390 bp
Tssr63887	Chr6:137496739-137496740 (-)	129,522 bp
Tssr63886	Chr6:137493993-137494017 (-)	132,257 bp
Tssr63885	Chr6:137482425-137482438 (-)	143,830 bp
Tssr63884	Chr6:137464215-137464219 (-)	162,045 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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