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

    Gene ID: 98845, updated on 30-Apr-2024

    Summary

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    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
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    Genomic context

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    See Eps8l2 in Genome Data Viewer
    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    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

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    Alleles

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

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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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)

    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.

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