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Aliases for EPS8L2 Gene

Aliases for EPS8L2 Gene

  • EPS8 Like 2 2 3
  • EPS8-Like 2 2 3 5
  • Epidermal Growth Factor Receptor Pathway Substrate 8-Related Protein 2 3 4
  • EPS8-Related Protein 2 3 4
  • EPS8-Like Protein 2 3 4
  • EPS8R2 3 4

External Ids for EPS8L2 Gene

Previous GeneCards Identifiers for EPS8L2 Gene

  • GC11M000470
  • GC11P000697
  • GC11P000522

Summaries for EPS8L2 Gene

Entrez Gene Summary for EPS8L2 Gene

  • 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]

GeneCards Summary for EPS8L2 Gene

EPS8L2 (EPS8 Like 2) is a Protein Coding gene. GO annotations related to this gene include actin binding and Rac guanyl-nucleotide exchange factor activity. An important paralog of this gene is EPS8.

UniProtKB/Swiss-Prot for EPS8L2 Gene

  • Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton.

Gene Wiki entry for EPS8L2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPS8L2 Gene

Genomics for EPS8L2 Gene

Regulatory Elements for EPS8L2 Gene

Enhancers for EPS8L2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EPS8L2 on UCSC Golden Path with GeneCards custom track

Promoters for EPS8L2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPS8L2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EPS8L2 Gene

Chromosome:
11
Start:
694,438 bp from pter
End:
727,727 bp from pter
Size:
33,290 bases
Orientation:
Plus strand

Genomic View for EPS8L2 Gene

Genes around EPS8L2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPS8L2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPS8L2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPS8L2 Gene

Proteins for EPS8L2 Gene

  • Protein details for EPS8L2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6S3-ES8L2_HUMAN
    Recommended name:
    Epidermal growth factor receptor kinase substrate 8-like protein 2
    Protein Accession:
    Q9H6S3
    Secondary Accessions:
    • B3KSX1
    • B7ZKL3
    • Q53GM8
    • Q8WYW7
    • Q96K06
    • Q9H6K9

    Protein attributes for EPS8L2 Gene

    Size:
    715 amino acids
    Molecular mass:
    80621 Da
    Quaternary structure:
    • Interacts with ABI1. Part of a complex that contains SOS1, ABI1 and EPS8L2. Associates with F-actin.
    SequenceCaution:
    • Sequence=AAL55838.1; Type=Frameshift; Positions=593; Evidence={ECO:0000305}; Sequence=BAB15180.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EPS8L2 Gene

    Alternative splice isoforms for EPS8L2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPS8L2 Gene

Proteomics data for EPS8L2 Gene at MOPED

Post-translational modifications for EPS8L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for EPS8L2 Gene

Domains & Families for EPS8L2 Gene

Protein Domains for EPS8L2 Gene

Suggested Antigen Peptide Sequences for EPS8L2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9H6S3

UniProtKB/Swiss-Prot:

ES8L2_HUMAN :
  • Contains 1 PID domain.
  • Belongs to the EPS8 family.
Domain:
  • Contains 1 PID domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the EPS8 family.
genes like me logo Genes that share domains with EPS8L2: view

No data available for Gene Families for EPS8L2 Gene

Function for EPS8L2 Gene

Molecular function for EPS8L2 Gene

UniProtKB/Swiss-Prot Function:
Stimulates guanine exchange activity of SOS1. May play a role in membrane ruffling and remodeling of the actin cytoskeleton.

Gene Ontology (GO) - Molecular Function for EPS8L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 14565974
genes like me logo Genes that share ontologies with EPS8L2: view

Phenotypes for EPS8L2 Gene

MGI mutant phenotypes for EPS8L2:
inferred from 1 alleles
GenomeRNAi human phenotypes for EPS8L2:
genes like me logo Genes that share phenotypes with EPS8L2: view

Animal Models for EPS8L2 Gene

MGI Knock Outs for EPS8L2:

Animal Model Products

miRNA for EPS8L2 Gene

miRTarBase miRNAs that target EPS8L2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPS8L2 Gene

Localization for EPS8L2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPS8L2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPS8L2 Gene COMPARTMENTS Subcellular localization image for EPS8L2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 4
nucleus 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for EPS8L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with EPS8L2: view

Pathways & Interactions for EPS8L2 Gene

SuperPathways for EPS8L2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPS8L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043547 positive regulation of GTPase activity IDA 14565974
genes like me logo Genes that share ontologies with EPS8L2: view

No data available for Pathways by source and SIGNOR curated interactions for EPS8L2 Gene

Drugs & Compounds for EPS8L2 Gene

No Compound Related Data Available

Transcripts for EPS8L2 Gene

Unigene Clusters for EPS8L2 Gene

EPS8-like 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EPS8L2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^
SP1: - - - - - - - - - -
SP2: - - - - - - -
SP3: - -
SP4: - -
SP5:
SP6:
SP7: - -
SP8: - - - -
SP9:
SP10: - - - - - - -
SP11: - - - -
SP12: -
SP13: - -
SP14:
SP15:
SP16:
SP17:

ExUns: 16a · 16b ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b · 23c ^ 24a · 24b ^ 25a · 25b
SP1: - - -
SP2: - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14: -
SP15:
SP16: - -
SP17:

Relevant External Links for EPS8L2 Gene

GeneLoc Exon Structure for
EPS8L2
ECgene alternative splicing isoforms for
EPS8L2

Expression for EPS8L2 Gene

mRNA expression in normal human tissues for EPS8L2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPS8L2 Gene

This gene is overexpressed in Esophagus - Mucosa (x6.9), Kidney - Cortex (x4.9), and Liver (x4.1).

Protein differential expression in normal tissues from HIPED for EPS8L2 Gene

This gene is overexpressed in Synovial fluid (17.8), Cervix (16.4), and Urine (11.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPS8L2 Gene



SOURCE GeneReport for Unigene cluster for EPS8L2 Gene Hs.55016

mRNA Expression by UniProt/SwissProt for EPS8L2 Gene

Q9H6S3-ES8L2_HUMAN
Tissue specificity: Detected in fibroblasts and placenta.
genes like me logo Genes that share expression patterns with EPS8L2: view

Primer Products

No data available for Protein tissue co-expression partners for EPS8L2 Gene

Orthologs for EPS8L2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPS8L2 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Eps8l2 35
  • 83.71 (n)
  • 86.48 (a)
Eps8l2 16
Eps8l2 36
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eps8l2 35
  • 83.71 (n)
  • 85.71 (a)
cow
(Bos Taurus)
Mammalia EPS8L2 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPS8L2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPS8L2 36
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859520 35
  • 70.26 (n)
  • 71.37 (a)
-- 36
  • 66 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
-- 36
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia EPS8L2 36
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps8l2 35
  • 63.65 (n)
  • 63.11 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC798252 35
  • 64.82 (n)
  • 62.37 (a)
EPS8L2 (1 of 2) 36
  • 59 (a)
OneToMany
EPS8L2 (2 of 2) 36
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta aru 36
  • 22 (a)
ManyToMany
CG8907 36
  • 24 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea eps-8 36
  • 22 (a)
OneToMany
Species with no ortholog for EPS8L2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for EPS8L2 Gene

ENSEMBL:
Gene Tree for EPS8L2 (if available)
TreeFam:
Gene Tree for EPS8L2 (if available)

Paralogs for EPS8L2 Gene

Paralogs for EPS8L2 Gene

genes like me logo Genes that share paralogs with EPS8L2: view

Variants for EPS8L2 Gene

Sequence variations from dbSNP and Humsavar for EPS8L2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs7126891 -- 721,019(-) GCACC(C/T)GACCC intron-variant
rs11555483 -- 721,344(+) TAGAG(A/G)AGGAG reference, missense
rs11555484 -- 722,455(+) CACTG(C/T)TCTCC reference, missense
rs11555486 -- 727,703(+) AAGCA(A/G)TTAAA utr-variant-3-prime
rs11600185 -- 719,400(+) GAACA(C/T)GGCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPS8L2 Gene

Variant ID Type Subtype PubMed ID
dgv182e199 CNV Deletion 23128226
dgv921n71 CNV Loss 21882294
dgv922n71 CNV Loss 21882294
nsv469923 CNV Loss 18288195
essv23843 CNV CNV 17122850
nsv896545 CNV Loss 21882294
dgv936n71 CNV Loss 21882294
nsv896570 CNV Loss 21882294
nsv832043 CNV Loss 17160897
dgv943n71 CNV Loss 21882294
dgv944n71 CNV Loss 21882294
nsv896578 CNV Loss 21882294
nsv896579 CNV Loss 21882294
nsv522733 CNV Loss 19592680
nsv896581 CNV Loss 21882294
dgv945n71 CNV Loss 21882294
esv1298114 CNV Insertion 17803354
nsv8755 CNV Gain 18304495
esv33757 CNV Gain 17666407

Variation tolerance for EPS8L2 Gene

Residual Variation Intolerance Score: 4.69% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPS8L2 Gene

Human Gene Mutation Database (HGMD)
EPS8L2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPS8L2 Gene

Disorders for EPS8L2 Gene

Relevant External Links for EPS8L2

Genetic Association Database (GAD)
EPS8L2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPS8L2

No disorders were found for EPS8L2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPS8L2 Gene

Publications for EPS8L2 Gene

  1. In silico analysis of the EPS8 gene family: genomic organization, expression profile, and protein structure. (PMID: 12620401) Tocchetti A. … Betsholtz C. (Genomics 2003) 2 3 4 67
  2. Phospho-tyrosine dependent protein-protein interaction network. (PMID: 25814554) Grossmann A. … Stelzl U. (Mol. Syst. Biol. 2015) 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for EPS8L2 Gene

Sources for EPS8L2 Gene

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