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EPS8L2 EPS8 like 2 [ Homo sapiens (human) ]

Gene ID: 64787, updated on 7-Dec-2018

Summary

Official Symbol
EPS8L2provided by HGNC
Official Full Name
EPS8 like 2provided by HGNC
Primary source
HGNC:HGNC:21296
See related
Ensembl:ENSG00000177106 MIM:614988
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

Genomic context

See EPS8L2 in Genome Data Viewer
Location:
11p15.5
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (706120..727727)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (706120..727727)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene dopamine receptor D4 Neighboring gene DEAF1 transcription factor Neighboring gene transmembrane protein 80 Neighboring gene DEAF1 transcription factor Neighboring gene uncharacterized LOC105376509 Neighboring gene transaldolase 1

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3088, FLJ16738, FLJ21935, FLJ22171, MGC126530

Gene Ontology Provided by GOA

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

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    5904..27511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022772.4NP_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
    Q9H6S3
    Related
    ENSP00000320828.8, ENST00000318562.12
    Conserved Domains (3) summary
    cd09540
    Location:623688
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:496546
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:48178
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    706120..727727
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018132.1XP_016873621.1  epidermal growth factor receptor kinase substrate 8-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H6S3
    Related
    ENSP00000435585.1, ENST00000533256.5
    Conserved Domains (3) summary
    cd09540
    Location:623688
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:496546
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:48178
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  2. XM_017018131.1XP_016873620.1  epidermal growth factor receptor kinase substrate 8-like protein 2 isoform X1

    UniProtKB/Swiss-Prot
    Q9H6S3
    Related
    ENSP00000436035.1, ENST00000530636.5
    Conserved Domains (3) summary
    cd09540
    Location:623688
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:496546
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:48178
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
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