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Aliases for EPS8L2 Gene

Aliases for EPS8L2 Gene

  • EPS8 Like 2 2 3 5
  • Epidermal Growth Factor Receptor Pathway Substrate 8-Related Protein 2 3 4
  • EPS8-Related Protein 2 3 4
  • EPS8R2 3 4
  • Epidermal Growth Factor Receptor Kinase Substrate 8-Like Protein 2 3
  • EPS8-Like Protein 2 4
  • EPS8-Like 2 2
  • DFNB106 3

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. Diseases associated with EPS8L2 include Deafness, Autosomal Recessive 106 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Gene Ontology (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. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity).

Gene Wiki entry for EPS8L2 Gene

Additional gene information for EPS8L2 Gene

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

Genomics for EPS8L2 Gene

GeneHancer (GH) Regulatory Elements for EPS8L2 Gene

Promoters and enhancers for EPS8L2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J000702 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 678.3 +12.6 12645 9.5 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF48 ETS1 YY1 TCF12 SLC30A9 EPS8L2 TMEM80 DEAF1 LOC105376508 PGGHG HRAS GC11P000712 ENSG00000269915
GH11J000690 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 666.3 +0.6 647 8.7 HDGF PKNOX1 CLOCK ARNT SIN3A DMAP1 YY1 ZNF207 ZNF143 PAF1 TMEM80 EPS8L2 DEAF1 HRAS DRD4 LOC105376508
GH11J000794 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.8 +101.9 101887 4.8 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF766 ZNF207 ZNF143 SP3 NFYC SLC25A22 PANO1 GC11P000804 TMEM80 EPS8L2 ENSG00000255108 PIDD1 CRACR2B
GH11J000712 Enhancer 1.1 ENCODE dbSUPER 15.3 +18.8 18814 2.2 MLX ARID4B SIN3A DMAP1 ZNF48 YY1 PAF1 RXRA SP5 ZHX2 GC11P000712 EPS8L2 ENSG00000269915
GH11J000657 Enhancer 0.7 ENCODE 22.3 -36.5 -36519 1.3 SAP130 ARID4B MAX CEBPG THRB RAD21 RARA ETS1 YY1 EGR1 TMEM80 EPS8L2 DEAF1 CDHR5 IRF7 TALDO1 CEND1 SLC25A22 PIDD1 RPLP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPS8L2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPS8L2 gene promoter:
  • E2F-5
  • E2F-4
  • E2F-3a
  • E2F-2
  • E2F-1
  • E2F
  • c-Ets-1
  • GCNF
  • SRY
  • GCNF-1

Genomic Locations for EPS8L2 Gene

Genomic Locations for EPS8L2 Gene
chr11:694,438-727,727
(GRCh38/hg38)
Size:
33,290 bases
Orientation:
Plus strand
chr11:694,438-727,727
(GRCh37/hg19)
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; Note=Translation N-terminally shortened.; 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

Post-translational modifications for EPS8L2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for EPS8L2 Gene

Domains & Families for EPS8L2 Gene

Gene Families for EPS8L2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 :
  • Belongs to the EPS8 family.
Family:
  • Belongs to the EPS8 family.
genes like me logo Genes that share domains with EPS8L2: view

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. In the cochlea, is required for stereocilia maintenance in adult hair cells (By similarity).

Phenotypes From GWAS Catalog for EPS8L2 Gene

Gene Ontology (GO) - Molecular Function for EPS8L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 14565974
GO:0005089 contributes_to Rho guanyl-nucleotide exchange factor activity IDA 14565974
GO:0005515 protein binding IPI 14565974
GO:0030676 contributes_to Rac guanyl-nucleotide exchange factor activity IDA 14565974
GO:0045296 cadherin binding IDA 25468996
genes like me logo Genes that share ontologies with EPS8L2: view
genes like me logo Genes that share phenotypes with EPS8L2: view

Animal Models for EPS8L2 Gene

MGI Knock Outs for EPS8L2:

Animal Model Products

CRISPR Products

miRNA for EPS8L2 Gene

miRTarBase miRNAs that target EPS8L2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8L2

Clone Products

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. Cell projection, stereocilium. Note=Localizes at the tips of the stereocilia of the inner and outer hair cells. {ECO:0000250 UniProtKB:Q99K30}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EPS8L2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 2
cytoskeleton 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPS8L2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0031982 vesicle IBA,HDA --
GO:0032420 stereocilium IEA --
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:0007266 Rho protein signal transduction IDA 14565974
GO:0007605 sensory perception of sound ISS --
GO:0030833 regulation of actin filament polymerization IBA --
GO:0035023 regulation of Rho protein signal transduction IDA 14565974
GO:0065009 regulation of molecular function IEA --
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

mRNA/cDNA for EPS8L2 Gene

Unigene Clusters for EPS8L2 Gene

EPS8-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPS8L2

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EPS8L2 Gene



NURSA nuclear receptor signaling pathways regulating expression of EPS8L2 Gene:

EPS8L2

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.

Evidence on tissue expression from TISSUES for EPS8L2 Gene

  • Kidney(4.6)
  • Nervous system(4.6)
  • Liver(4.3)
  • Lung(3.6)
genes like me logo Genes that share expression patterns with EPS8L2: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 16 34 33
  • 83.71 (n)
rat
(Rattus norvegicus)
Mammalia Eps8l2 33
  • 83.71 (n)
cow
(Bos Taurus)
Mammalia EPS8L2 34
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPS8L2 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPS8L2 34
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC100859520 33
  • 70.26 (n)
-- 34
  • 70 (a)
OneToMany
-- 34
  • 70 (a)
OneToMany
-- 34
  • 66 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia EPS8L2 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eps8l2 33
  • 63.65 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC798252 33
  • 64.82 (n)
EPS8L2 (1 of 2) 34
  • 59 (a)
OneToMany
EPS8L2 (2 of 2) 34
  • 45 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8907 34
  • 24 (a)
ManyToMany
aru 34
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea eps-8 34
  • 22 (a)
OneToMany
Species where no ortholog for EPS8L2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EPS8L2: view image

Paralogs for EPS8L2 Gene

Paralogs for EPS8L2 Gene

(3) SIMAP similar genes for EPS8L2 Gene using alignment to 10 proteins:

  • ES8L2_HUMAN
  • B7ZKL3_HUMAN
  • E9PLH1_HUMAN
  • E9PLN2_HUMAN
  • E9PM34_HUMAN
  • E9PN68_HUMAN
  • E9PNT0_HUMAN
  • E9PNY4_HUMAN
  • H0YD62_HUMAN
  • H0YF37_HUMAN
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 Variation AA Info Type
rs1000101704 -- 703,659(+) C/T upstream_transcript_variant
rs1000129172 -- 720,310(+) C/T intron_variant
rs1000174405 -- 727,612(+) C/T 3_prime_UTR_variant
rs1000302540 -- 720,827(+) C/T intron_variant
rs1000432945 -- 717,887(+) T/C intron_variant

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

Variant ID Type Subtype PubMed ID
nsv8755 CNV gain 18304495
nsv832043 CNV loss 17160897
nsv552869 CNV loss 21841781
nsv522733 CNV loss 19592680
nsv469923 CNV loss 18288195
nsv1159791 CNV deletion 26073780
nsv1111045 CNV tandem duplication 24896259
esv33757 CNV gain 17666407
esv2759794 CNV loss 17122850
esv1298114 CNV insertion 17803354
dgv182e199 CNV deletion 23128226

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)

Additional Variant Information for EPS8L2 Gene

Human Gene Mutation Database (HGMD)
EPS8L2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPS8L2

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

Disorders for EPS8L2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for EPS8L2 Gene - From: HGMD, OMIM, ClinVar, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
deafness, autosomal recessive 106
  • dfnb106
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ES8L2_HUMAN
  • Deafness, autosomal recessive, 106 (DFNB106) [MIM:617637]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:26282398, ECO:0000269 PubMed:28281779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EPS8L2

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

No data available for 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 58
  2. EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss. (PMID: 26282398) Dahmani M … Petit C (Orphanet journal of rare diseases 2015) 3 4 58
  3. The eps8 family of proteins links growth factor stimulation to actin reorganization generating functional redundancy in the Ras/Rac pathway. (PMID: 14565974) Offenhäuser N … Scita G (Molecular biology of the cell 2004) 3 4 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for EPS8L2 Gene

Sources for EPS8L2 Gene

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