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    EPS8L2 EPS8 signaling adaptor L2 [ Homo sapiens (human) ]

    Gene ID: 64787, updated on 27-Nov-2024

    Summary

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    Official Symbol
    EPS8L2provided by HGNC
    Official Full Name
    EPS8 signaling adaptor L2provided by HGNC
    Primary source
    HGNC:HGNC:21296
    See related
    Ensembl:ENSG00000177106 MIM:614988; AllianceGenome:HGNC:21296
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPS8R2; DFNB106
    Summary
    This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]
    Expression
    Broad expression in kidney (RPKM 41.5), small intestine (RPKM 39.9) and 18 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EPS8L2 in Genome Data Viewer
    Location:
    11p15.5
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (706231..727727)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (757231..779052)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (706231..727727)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902603 Neighboring gene DEAF1 transcription factor Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:673917-675116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:676679-677178 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:679106-679606 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:686586-687086 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:687087-687587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:688565-689488 Neighboring gene hESC enhancers GRCh37_chr11:694659-695198 and GRCh37_chr11:695199-695740 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:695741-696280 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:696821-697360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:704144-705071 Neighboring gene transmembrane protein 80 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3015 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:706927-707853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:707854-708781 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:709709-710636 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3017 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3018 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3019 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3020 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3021 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:727187-728092 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:734652-735152 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:735153-735653 Neighboring gene uncharacterized LOC105376509 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:742971-743670 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:743671-744369 Neighboring gene hESC enhancers GRCh37_chr11:746448-747096 and GRCh37_chr11:747097-747745 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3025 Neighboring gene transaldolase 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:762588-763787

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. Dahmani M, et al. Orphanet J Rare Dis, 2015 Aug 19. PMID 26282398, Free PMC Article
    2. In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure. Tocchetti A, et al. Genomics, 2003 Feb. PMID 12620401
    3. 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
    4. The Tumor Suppressor SASH1 Interacts With the Signal Adaptor CRKL to Inhibit Epithelial-Mesenchymal Transition and Metastasis in Colorectal Cancer. Franke FC, et al. Cell Mol Gastroenterol Hepatol, 2019. PMID 30480076, Free PMC Article
    5. Global phosphoproteome of HT-29 human colon adenocarcinoma cells. Kim JE, et al. J Proteome Res, 2005 Jul-Aug. PMID 16083285

    See all (41) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Hearing loss, autosomal recessive 106
    MedGen: C4539954 OMIM: 617637 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3088, FLJ16738, FLJ21935, FLJ22171, MGC126530

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables actin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables actin binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables cadherin binding HDA PubMed 
    contributes_to guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of ruffle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in positive regulation of ruffle assembly IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    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 IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sensory perception of sound ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in ruffle membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in ruffle membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in stereocilium bundle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in stereocilium tip ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in vesicle HDA PubMed 

    General protein information

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    Preferred Names
    epidermal growth factor receptor kinase substrate 8-like protein 2
    Names
    EPS8 like 2
    EPS8-related 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.

    Genomic

    1. NG_051601.1 RefSeqGene

      Range
      6015..27511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_022772.4 → NP_073609.2  epidermal growth factor receptor kinase substrate 8-like protein 2

      See identical proteins and their annotated locations for NP_073609.2

      Status: REVIEWED

      Source sequence(s)
      AK025824, AY074929, BC101481
      Consensus CDS
      CCDS31328.1
      UniProtKB/Swiss-Prot
      B3KSX1, B7ZKL3, Q53GM8, Q8WYW7, Q96K06, Q9H6K9, Q9H6S3
      UniProtKB/TrEMBL
      A0A3B3ISQ4
      Related
      ENSP00000320828.8, ENST00000318562.13
      Conserved Domains (3) summary
      cd09540
      Location:623 → 688
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:496 → 546
      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_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      706231..727727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018132.2 → XP_016873621.1  epidermal growth factor receptor kinase substrate 8-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KSX1, B7ZKL3, Q53GM8, Q8WYW7, Q96K06, Q9H6K9, Q9H6S3
      UniProtKB/TrEMBL
      A0A3B3ISQ4
      Conserved Domains (3) summary
      cd09540
      Location:623 → 688
      SAM_EPS8-like; SAM domain of EPS8-like subfamily
      cd11764
      Location:496 → 546
      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

    2. XM_047427411.1 → XP_047283367.1  epidermal growth factor receptor kinase substrate 8-like protein 2 isoform X2

      UniProtKB/Swiss-Prot
      B3KSX1, B7ZKL3, Q53GM8, Q8WYW7, Q96K06, Q9H6K9, Q9H6S3
      Related
      ENSP00000435585.1, ENST00000533256.5

    3. XM_047427412.1 → XP_047283368.1  epidermal growth factor receptor kinase substrate 8-like protein 2 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      757231..779052
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054369647.1 → XP_054225622.1  epidermal growth factor receptor kinase substrate 8-like protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H6S3.2 GenPept UniProtKB/Swiss-Prot:Q9H6S3

    Gene LinkOut

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

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