Eps8l2 EPS8-like 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Eps8l2provided by MGI
Official Full Name: EPS8-like 2provided by MGI
Primary source: MGI:MGI:2138828
See related: Ensembl:ENSMUSG00000025504 AllianceGenome:MGI:2138828
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Eps8r2
Summary: Predicted to enable actin filament binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in sensory perception of sound. Located in stereocilium tip. Is expressed in several structures, including alimentary system; brain; genitourinary system; integumental system; and sensory organ. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 106. Orthologous to human EPS8L2 (EPS8 signaling adaptor L2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in small intestine adult (RPKM 122.4), duodenum adult (RPKM 121.3) and 12 other tissues See more
Orthologs: human all
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Genomic context

Location:: 7 F5; 7 86.66 cM

Exon count:: 21

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (140918824..140942933)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (141338911..141363020)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Eps8L2 is required for the long-term maintenance of the staircase structure and mechanosensory function of auditory hair bundles.
Title: Progressive hearing loss and gradual deterioration of sensory hair bundles in the ears of mice lacking the actin-binding protein Eps8L2.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:235809

AI042819 (e-PCR)
- UniSTS:159051

AW545405 (e-PCR)
- UniSTS:179675

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin filament binding	ISO Inferred from Sequence Orthology more info	PubMed
enables guanyl-nucleotide exchange factor activity	IEA Inferred from Electronic Annotation more info
contributes_to guanyl-nucleotide exchange factor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Rac protein signal transduction	ISO Inferred from Sequence Orthology more info	PubMed
involved_in Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ruffle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of ruffle assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of ruffle assembly	ISO Inferred from Sequence Orthology more info
involved_in regulation of Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of Rho protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of Rho protein signal transduction	ISO Inferred from Sequence Orthology more info
involved_in sensory perception of sound	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
part_of protein-containing complex	IEA Inferred from Electronic Annotation more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info
located_in ruffle	ISO Inferred from Sequence Orthology more info	PubMed
is_active_in ruffle membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in ruffle membrane	IEA Inferred from Electronic Annotation more info
located_in ruffle membrane	ISO Inferred from Sequence Orthology more info
located_in stereocilium bundle	IDA Inferred from Direct Assay more info	PubMed
located_in stereocilium tip	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: epidermal growth factor receptor kinase substrate 8-like protein 2

Names: EPS8 related protein 2; EPS8-like protein 2; epidermal growth factor receptor pathway substrate 8-like protein 2; epidermal growth factor receptor pathway substrate 8-related protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_133191.3 → NP_573454.2 epidermal growth factor receptor kinase substrate 8-like protein 2

See identical proteins and their annotated locations for NP_573454.2

Status: VALIDATED

Source sequence(s)

AC163434

Consensus CDS

CCDS22009.1

UniProtKB/Swiss-Prot

Q91VT7, Q99K30

Related

ENSMUSP00000026577.7, ENSMUST00000026577.13

Conserved Domains (3) summary

cd09540
Location:626 → 691

SAM_EPS8-like; SAM domain of EPS8-like subfamily

cd11764
Location:499 → 549

SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins

cd01210
Location:48 → 178

PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain