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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
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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
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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

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