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EPHA3 Gene(Protein Coding)

EPH Receptor A3

GCID:
GC03P089077
GIFtS:
69
Genes Participants
UDN Logo

Aliases for EPHA3 Gene

Aliases for EPHA3 Gene

  • EPH Receptor A3 2 3 5
  • Tyrosine-Protein Kinase Receptor ETK1 3 4
  • Eph-Like Tyrosine Kinase 1 3 4
  • EPH-Like Kinase 4 3 4
  • EC 2.7.10.1 4 63
  • TYRO4 3 4
  • HEK4 3 4
  • ETK1 3 4
  • ETK 3 4
  • EK4 3 4
  • HEK 3 4
  • Testicular Tissue Protein Li 64 3
  • TYRO4 Protein Tyrosine Kinase 3
  • Tyrosine-Protein Kinase TYRO4 4
  • Human Embryo Kinase 1 3
  • Human Embryo Kinase 4
  • EC 2.7.10 63
  • EphA3 2

External Ids for EPHA3 Gene

Previous HGNC Symbols for EPHA3 Gene

  • ETK
  • ETK1
  • TYRO4

Previous GeneCards Identifiers for EPHA3 Gene

  • GC03P089525
  • GC03P092010
  • GC03P089036
  • GC03P089239

Summaries for EPHA3 Gene

Entrez Gene Summary for EPHA3 Gene

  • This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for EPHA3 Gene

EPHA3 (EPH Receptor A3) is a Protein Coding gene. Diseases associated with EPHA3 include Myelophthisic Anemia and Pseudohypoaldosteronism, Type I. Among its related pathways are Axon guidance and ERK Signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is EPHB3.

UniProtKB/Swiss-Prot for EPHA3 Gene

  • Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5. Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organization and cell migration. Plays a role in cardiac cells migration and differentiation and regulates the formation of the atrioventricular canal and septum during development probably through activation by EFNA1. Involved in the retinotectal mapping of neurons. May also control the segregation but not the guidance of motor and sensory axons during neuromuscular circuit development.

Tocris Summary for EPHA3 Gene

Gene Wiki entry for EPHA3 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPHA3 Gene

Genomics for EPHA3 Gene

Products:

  1. Regulatory Element

Regulatory Elements for EPHA3 Gene

Enhancers for EPHA3 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 EPHA3 on UCSC Golden Path with GeneCards custom track

Promoters for EPHA3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EPHA3 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the EPHA3 gene promoter:

Genomic Location for EPHA3 Gene

Chromosome:
3
Start:
89,107,524 bp from pter
End:
89,482,134 bp from pter
Size:
374,611 bases
Orientation:
Plus strand

Genomic View for EPHA3 Gene

Genes around EPHA3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHA3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHA3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EPHA3 Gene

Proteins for EPHA3 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for EPHA3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29320-EPHA3_HUMAN
    Recommended name:
    Ephrin type-A receptor 3
    Protein Accession:
    P29320
    Secondary Accessions:
    • Q9H2V3
    • Q9H2V4

    Protein attributes for EPHA3 Gene

    Size:
    983 amino acids
    Molecular mass:
    110131 Da
    Quaternary structure:
    • Heterotetramer upon binding of the ligand. The heterotetramer is composed of an ephrin dimer and a receptor dimer. Oligomerization is probably required to induce biological responses. Forms a ternary EFNA5-EPHA3-ADAM10 complex mediating EFNA5 extracellular domain shedding by ADAM10 which regulates the EFNA5-EPHA3 complex internalization and function. Interacts with NCK1 (via SH2 domain); mediates EFNA5-EPHA3 signaling (By similarity). Interacts (phosphorylated) with PTPN1; dephosphorylates EPHA3 and may regulate its trafficking and function. Interacts (phosphorylated) with CRK; mediates EFNA5-EPHA3 signaling through RHOA GTPase activation.

    Three dimensional structures from OCA and Proteopedia for EPHA3 Gene

    Alternative splice isoforms for EPHA3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHA3 Gene

Proteomics data for EPHA3 Gene at MOPED

Protein Expression for EPHA3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for EPHA3 Gene

P29320:

Post-translational modifications for EPHA3 Gene

  • Autophosphorylates upon activation by EFNA5. Phosphorylation on Tyr-602 mediates interaction with NCK1. Dephosphorylated by PTPN1.
  • Glycosylation at Asn 232, Asn 337, Asn 391, Asn 404, and Asn 493
  • Modification sites at PhosphoSitePlus

Other Protein References for EPHA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EPHA3 (EphA3)

Domains & Families for EPHA3 Gene

Gene Families for EPHA3 Gene

HGNC:
IUPHAR :

Protein Domains for EPHA3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EPHA3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P29320

UniProtKB/Swiss-Prot:

EPHA3_HUMAN :
  • Contains 1 Eph LBD (Eph ligand-binding) domain.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
Domain:
  • Contains 1 Eph LBD (Eph ligand-binding) domain.
  • Contains 2 fibronectin type-III domains.
  • Contains 1 protein kinase domain.
  • Contains 1 SAM (sterile alpha motif) domain.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
genes like me logo Genes that share domains with EPHA3: view

Function for EPHA3 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for EPHA3 Gene

GENATLAS Biochemistry:
EPH-related tyrosine kinase receptor binding ephrins A,expressed in projecting neurons and their target fields,involved in short-range contact-mediated axonal guidance,expressed by some pre-B and T cell lines,not detectable on normal adult human tissues
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot Function:
Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Highly promiscuous for ephrin-A ligands it binds preferentially EFNA5. Upon activation by EFNA5 regulates cell-cell adhesion, cytoskeletal organization and cell migration. Plays a role in cardiac cells migration and differentiation and regulates the formation of the atrioventricular canal and septum during development probably through activation by EFNA1. Involved in the retinotectal mapping of neurons. May also control the segregation but not the guidance of motor and sensory axons during neuromuscular circuit development.

Enzyme Numbers (IUBMB) for EPHA3 Gene

Gene Ontology (GO) - Molecular Function for EPHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004713 protein tyrosine kinase activity IEA --
GO:0005003 ephrin receptor activity IEA --
genes like me logo Genes that share ontologies with EPHA3: view

Phenotypes for EPHA3 Gene

MGI mutant phenotypes for EPHA3:
inferred from 1 alleles
GenomeRNAi human phenotypes for EPHA3:
genes like me logo Genes that share phenotypes with EPHA3: view

Animal Models for EPHA3 Gene

MGI Knock Outs for EPHA3:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for EPHA3 Gene

Localization for EPHA3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHA3 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EPHA3 Gene COMPARTMENTS Subcellular localization image for EPHA3 gene
Compartment Confidence
endosome 5
plasma membrane 5
extracellular 4
cytosol 2
golgi apparatus 2
nucleus 2

No data available for Gene Ontology (GO) - Cellular Components for EPHA3 Gene

Pathways & Interactions for EPHA3 Gene

genes like me logo Genes that share pathways with EPHA3: view

SIGNOR curated interactions for EPHA3 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for EPHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007411 axon guidance TAS --
GO:0016477 cell migration ISS --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
GO:0048013 ephrin receptor signaling pathway IEA,TAS --
genes like me logo Genes that share ontologies with EPHA3: view

Drugs & Compounds for EPHA3 Gene

Products:

  1. Drug

(27) Drugs for EPHA3 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
KB004 Pharma 0

(24) Additional Compounds for EPHA3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
 Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with EPHA3: view

Transcripts for EPHA3 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for EPHA3 Gene

(4) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(45) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPHA3 Gene

EPH receptor A3:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPHA3 Gene

No ASD Table

Relevant External Links for EPHA3 Gene

GeneLoc Exon Structure for
EPHA3
ECgene alternative splicing isoforms for
EPHA3

Expression for EPHA3 Gene

Products:

  1. Primer

mRNA expression in normal human tissues for EPHA3 Gene

mRNA expression in normal human tissues for EPHA3 Gene
mRNA expression by BioGPS for EPHA3 GenemRNA expression by GTEx for EPHA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for EPHA3 Gene

This gene is overexpressed in Placenta (22.4), Prostate (16.9), Fetal Brain (16.3), and Brain (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EPHA3 Gene



SOURCE GeneReport for Unigene cluster for EPHA3 Gene Hs.123642

mRNA Expression by UniProt/SwissProt for EPHA3 Gene

P29320-EPHA3_HUMAN
Tissue specificity: Widely expressed. Highest level in placenta.
genes like me logo Genes that share expression patterns with EPHA3: view

Protein tissue co-expression partners for EPHA3 Gene

Primer Products

No data available for mRNA differential expression in normal tissues for EPHA3 Gene

Orthologs for EPHA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPHA3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
 Mammalia EPHA3 35
  • 92.71 (n)
  • 97.46 (a)
EPHA3 36
  • 97 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia EPHA3 35
  • 88.85 (n)
  • 96.97 (a)
mouse
(Mus musculus)
 Mammalia Epha3 35
  • 88.88 (n)
  • 96.54 (a)
Epha3 16
Epha3 36
  • 96 (a)
 OneToOne
chimpanzee
(Pan troglodytes)
 Mammalia EPHA3 35
  • 99.39 (n)
  • 99.49 (a)
EPHA3 36
  • 99 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Epha3 35
  • 89.56 (n)
  • 95.73 (a)
oppossum
(Monodelphis domestica)
 Mammalia EPHA3 36
  • 93 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia EPHA3 36
  • 89 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves EPHA3 35
  • 82.23 (n)
  • 92.32 (a)
EPHA3 36
  • 92 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EPHA3 36
  • 88 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia epha3 35
  • 77.76 (n)
  • 85.15 (a)
zebrafish
(Danio rerio)
 Actinopterygii epha3 36
  • 83 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Eph 37
  • 40 (a)
hop 37
  • 40 (a)
worm
(Caenorhabditis elegans)
 Secernentea old-1 37
  • 32 (a)
old-2 37
  • 32 (a)
W04G5.10 37
  • 35 (a)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.498 35
Species with no ortholog for EPHA3:
  • 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)
  • 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)
  • 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 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 EPHA3 Gene

ENSEMBL:
Gene Tree for EPHA3 (if available)
TreeFam:
Gene Tree for EPHA3 (if available)

Paralogs for EPHA3 Gene

Paralogs for EPHA3 Gene

(46) SIMAP similar genes for EPHA3 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EPHA3: view

Variants for EPHA3 Gene

Sequence variations from dbSNP and Humsavar for EPHA3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs17801309 - 89,472,514(+) CTTCC(A/C/G)CACAA reference, missense
VAR_036086 A colorectal cancer sample
VAR_036087 A colorectal cancer sample
VAR_036088 A colorectal cancer sample
VAR_036089 A colorectal cancer sample

Structural Variations from Database of Genomic Variants (DGV) for EPHA3 Gene

Variant ID Type Subtype PubMed ID
nsv877159 CNV Gain 21882294
nsv834760 CNV Loss 17160897
esv2667696 CNV Deletion 23128226
nsv437866 CNV Loss 16468122
dgv1477e1 CNV Complex 17122850
esv2725646 CNV Deletion 23290073
esv2156570 CNV Deletion 18987734
esv268469 CNV Insertion 20981092
esv273850 CNV Insertion 20981092
nsv437790 CNV Loss 16327808
nsv10290 CNV Loss 18304495
esv26625 CNV Loss 19812545
esv2663816 CNV Deletion 23128226
esv33126 CNV Loss 17666407
esv2421597 CNV Deletion 20811451
nsv441832 CNV CNV 18776908
nsv514159 CNV Loss 21397061
dgv612n27 CNV Loss 19166990
nsv516852 CNV Loss 19592680
esv2660172 CNV Deletion 23128226
nsv3908 CNV Loss 18451855
esv2490848 CNV Deletion 19546169
nsv435764 CNV Deletion 17901297
nsv508227 CNV Loss 20534489
nsv513057 CNV Loss 21212237
esv2678650 CNV Deletion 23128226
nsv499007 CNV Loss 21111241

Variation tolerance for EPHA3 Gene

Residual Variation Intolerance Score: 6.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.32; 95.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPHA3 Gene

Human Gene Mutation Database (HGMD)
EPHA3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHA3 Gene

Disorders for EPHA3 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EPHA3 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myelophthisic anemia
  • anemia leukoerythroblastic
pseudohypoaldosteronism, type i
  • autosomal recessive pseudohypoaldosteronism type 1
lung large cell carcinoma
  • large cell carcinoma of lung
duodenum cancer
  • cancer of duodenum
- elite association - COSMIC cancer census association via MalaCards
Search EPHA3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPHA3_HUMAN
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:12738854}. Note=The gene represented in this entry may be involved in disease pathogenesis.

Relevant External Links for EPHA3

Genetic Association Database (GAD)
EPHA3
Human Genome Epidemiology (HuGE) Navigator
EPHA3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPHA3
genes like me logo Genes that share disorders with EPHA3: view

No data available for Genatlas for EPHA3 Gene

Publications for EPHA3 Gene

  1. Molecular cloning of HEK, the gene encoding a receptor tyrosine kinase expressed by human lymphoid tumor cell lines. (PMID: 1311845) Wicks I.P. … Boyd A.W. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 67
  2. Low frequency mutation of the Ephrin receptor A3 gene in hepatocellular carcinoma. (PMID: 19469653) Bae H.J. … Nam S.W. (Neoplasma 2009) 3 23
  3. Structural recognition of an optimized substrate for the ephrin family of receptor tyrosine kinases. (PMID: 19678838) Davis T.L. … Dhe-Paganon S. (FEBS J. 2009) 3 23
  4. Autoregulation by the juxtamembrane region of the human ephrin receptor tyrosine kinase A3 (EphA3). (PMID: 18547520) Davis T.L. … Dhe-Paganon S. (Structure 2008) 3 23
  5. The EphA3 receptor is expressed in a subset of rhabdomyosarcoma cell lines and suppresses cell adhesion and migration. (PMID: 18814179) Clifford N. … O'Connor R. (J. Cell. Biochem. 2008) 3 23

Products for EPHA3 Gene

  • Addgene plasmids for EPHA3

Sources for EPHA3 Gene

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