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Eps8 epidermal growth factor receptor pathway substrate 8 [ Mus musculus (house mouse) ]

Gene ID: 13860, updated on 9-May-2024

Summary

Official Symbol
Eps8provided by MGI
Official Full Name
epidermal growth factor receptor pathway substrate 8provided by MGI
Primary source
MGI:MGI:104684
See related
Ensembl:ENSMUSG00000015766 AllianceGenome:MGI:104684
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
Summary
Enables actin binding activity and small GTPase binding activity. Involved in several processes, including Rac protein signal transduction; actin filament organization; and barbed-end actin filament capping. Acts upstream of or within several processes, including actin cytoskeleton reorganization; behavioral response to ethanol; and cellular response to leukemia inhibitory factor. Located in several cellular components, including brush border; ruffle membrane; and stereocilium tip. Part of NMDA selective glutamate receptor complex. Is expressed in several structures, including adrenal gland; alimentary system; bone; brain; and metanephros. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 102. Orthologous to human EPS8 (epidermal growth factor receptor pathway substrate 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in colon adult (RPKM 16.0), large intestine adult (RPKM 15.7) and 23 other tissues See more
Orthologs
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Genomic context

Location:
6 G1; 6 66.78 cM
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (137454242..137626262, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (137477245..137649397, complement)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene RAS-like, estrogen-regulated, growth-inhibitor Neighboring gene predicted gene, 38914 Neighboring gene STARR-positive B cell enhancer mm9_chr6:137140638-137140939 Neighboring gene STARR-seq mESC enhancer starr_17624 Neighboring gene predicted gene, 52924 Neighboring gene protein tyrosine phosphatase receptor type O Neighboring gene STARR-seq mESC enhancer starr_17627 Neighboring gene STARR-seq mESC enhancer starr_17628 Neighboring gene STARR-seq mESC enhancer starr_17630 Neighboring gene STARR-seq mESC enhancer starr_17631 Neighboring gene STARR-positive B cell enhancer ABC_E4877 Neighboring gene predicted gene, 38915 Neighboring gene serine/threonine kinase receptor associated protein

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

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 protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in Rac protein signal transduction IDA
Inferred from Direct Assay
more info
PubMed 
involved_in Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in actin crosslink formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in actin crosslink formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within actin cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in actin filament bundle assembly IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within actin filament bundle assembly IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in actin filament bundle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in actin polymerization-dependent cell motility IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within adult locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in barbed-end actin filament capping IDA
Inferred from Direct Assay
more info
PubMed 
involved_in barbed-end actin filament capping IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within behavioral response to ethanol IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within cellular response to leukemia inhibitory factor IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in dendritic cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in exit from mitosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of ruffle assembly IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of Rho protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in regulation of actin filament length IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of cell shape IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels EXP
Inferred from Experiment
more info
PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IEP
Inferred from Expression Pattern
more info
PubMed 
Component Evidence Code Pubs
part_of NMDA selective glutamate receptor complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in brush border IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
is_active_in glutamatergic synapse EXP
Inferred from Experiment
more info
PubMed 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IEP
Inferred from Expression Pattern
more info
PubMed 
is_active_in glutamatergic synapse ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IEA
Inferred from Electronic Annotation
more info
 
located_in neuron projection IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in postsynaptic density IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynaptic density ISO
Inferred from Sequence Orthology
more info
 
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 IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium bundle IDA
Inferred from Direct Assay
more info
PubMed 
located_in stereocilium tip IDA
Inferred from Direct Assay
more info
PubMed 
located_in synapse IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
epidermal growth factor receptor kinase substrate 8

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_001271587.2NP_001258516.1  epidermal growth factor receptor kinase substrate 8 isoform 2

    See identical proteins and their annotated locations for NP_001258516.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains a distinct 5' UTR and initiates translation at an alternate start codon, compared to variant 1. The resulting isoform (2) has a distinct N-terminus and is longer than isoform 1.
    Source sequence(s)
    AC093120, AC166347
    UniProtKB/TrEMBL
    Q3U2Z5
    Conserved Domains (3) summary
    cd09540
    Location:745809
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:560613
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:90217
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  2. NM_001271588.2NP_001258517.1  epidermal growth factor receptor kinase substrate 8 isoform 1

    See identical proteins and their annotated locations for NP_001258517.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 all encode the same isoform (1).
    Source sequence(s)
    AC093120, AC166347
    Consensus CDS
    CCDS20665.1
    UniProtKB/Swiss-Prot
    Q08509, Q3TM41
    Related
    ENSMUSP00000107509.2, ENSMUST00000111878.8
    Conserved Domains (3) summary
    cd09540
    Location:719783
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:534587
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  3. NM_001271589.2NP_001258518.1  epidermal growth factor receptor kinase substrate 8 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains a distinct 5' UTR, initiates translation at a downstream start codon and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (3) has a shorter N-terminus, compared to isoform 1. Variants 5, 8, and 9 all encode the same isoform (3).
    Source sequence(s)
    AC093120
    UniProtKB/TrEMBL
    Q3TMV3
    Conserved Domains (2) summary
    cd09540
    Location:459523
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:274327
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
  4. NM_001271595.2NP_001258524.1  epidermal growth factor receptor kinase substrate 8 isoform 1

    See identical proteins and their annotated locations for NP_001258524.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, 3, and 6 all encode the same isoform (1).
    Source sequence(s)
    AC093120, AC166347
    Consensus CDS
    CCDS20665.1
    UniProtKB/Swiss-Prot
    Q08509, Q3TM41
    Related
    ENSMUSP00000098402.3, ENSMUST00000100841.9
    Conserved Domains (3) summary
    cd09540
    Location:719783
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:534587
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  5. NM_001409747.1NP_001396676.1  epidermal growth factor receptor kinase substrate 8 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC093120, AC166347
    UniProtKB/Swiss-Prot
    Q08509, Q3TM41
  6. NM_001409750.1NP_001396679.1  epidermal growth factor receptor kinase substrate 8 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC093120, AC166347
  7. NM_001409751.1NP_001396680.1  epidermal growth factor receptor kinase substrate 8 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC093120, AC166347
  8. NM_001409752.1NP_001396681.1  epidermal growth factor receptor kinase substrate 8 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC093120
  9. NM_001409757.1NP_001396686.1  epidermal growth factor receptor kinase substrate 8 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC093120
  10. NM_007945.4NP_031971.2  epidermal growth factor receptor kinase substrate 8 isoform 1

    See identical proteins and their annotated locations for NP_031971.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants 1, 2, 3, and 6 all encode the same isoform (1).
    Source sequence(s)
    AC093120, AC166347
    Consensus CDS
    CCDS20665.1
    UniProtKB/Swiss-Prot
    Q08509, Q3TM41
    Related
    ENSMUSP00000052776.7, ENSMUST00000058210.13
    Conserved Domains (3) summary
    cd09540
    Location:719783
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:534587
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    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_000072.7 Reference GRCm39 C57BL/6J

    Range
    137454242..137626262 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_030255145.1XP_030111005.1  epidermal growth factor receptor kinase substrate 8 isoform X1

    UniProtKB/Swiss-Prot
    Q08509, Q3TM41
    Conserved Domains (3) summary
    cd09540
    Location:719783
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:534587
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain
  2. XM_011241204.2XP_011239506.1  epidermal growth factor receptor kinase substrate 8 isoform X1

    See identical proteins and their annotated locations for XP_011239506.1

    UniProtKB/Swiss-Prot
    Q08509, Q3TM41
    Conserved Domains (3) summary
    cd09540
    Location:719783
    SAM_EPS8-like; SAM domain of EPS8-like subfamily
    cd11764
    Location:534587
    SH3_Eps8; Src Homology 3 domain of Epidermal growth factor receptor kinase substrate 8 and similar proteins
    cd01210
    Location:64191
    PTB_EPS8; Epidermal growth factor receptor kinase substrate (EPS8)-like Phosphotyrosine-binding (PTB) domain

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001409756.1: Suppressed sequence

    Description
    NM_001409756.1: This RefSeq was removed because it was redundant with NM_001409752.1.