U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 98845, updated on 5-Mar-2024

Summary

Go to the top of the page Help
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 like 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in small intestine adult (RPKM 122.4), duodenum adult (RPKM 121.3) and 12 other tissues See more
Orthologs
human all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
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_000073.7Genomic Context describing neighboring genes Neighboring gene DEAF1, transcription factor Neighboring gene STARR-seq mESC enhancer starr_20486 Neighboring gene predicted gene, 53347 Neighboring gene STARR-positive B cell enhancer ABC_E4985 Neighboring gene transmembrane protein 80 Neighboring gene RIKEN cDNA B230206H07 gene Neighboring gene STARR-seq mESC enhancer starr_20489 Neighboring gene predicted gene, 25725 Neighboring gene STARR-positive B cell enhancer ABC_E8223 Neighboring gene transaldolase 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • Project title: 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Progressive hearing loss and gradual deterioration of sensory hair bundles in the ears of mice lacking the actin-binding protein Eps8L2. Furness DN, et al. Proc Natl Acad Sci U S A, 2013 Aug 20. PMID 23918390, Free PMC Article
  2. Eps8 controls actin-based motility by capping the barbed ends of actin filaments. Disanza A, et al. Nat Cell Biol, 2004 Dec. PMID 15558031
  3. CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells. Giese APJ, et al. Nat Commun, 2017 Jun 29. PMID 28663585, Free PMC Article
  4. The eps8 family of proteins links growth factor stimulation to actin reorganization generating functional redundancy in the Ras/Rac pathway. Offenhäuser N, et al. Mol Biol Cell, 2004 Jan. PMID 14565974, Free PMC Article
  5. Kruppel-like factor 5 controls villus formation and initiation of cytodifferentiation in the embryonic intestinal epithelium. Bell SM, et al. Dev Biol, 2013 Mar 15. PMID 23266329, Free PMC Article

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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

Go to the top of the page Help

Alleles

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

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

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 
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 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 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 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 cell projection IEA
Inferred from Electronic Annotation
more info
  
located_in centrosome ISO
Inferred from Sequence Orthology
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
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 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 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

Go to the top of the page Help
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)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. 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

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    140918824..140942933
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001778021.1 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99K30.1 GenPept UniProtKB/Swiss-Prot:Q99K30

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous