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Aliases for EPHA3 Gene

Aliases for EPHA3 Gene

  • EPH Receptor A3 2 3
  • ETK1 3 4 6
  • HEK 3 4 6
  • 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 64
  • TYRO4 3 4
  • HEK4 3 4
  • ETK 3 4
  • EK4 3 4
  • TYRO4 Protein Tyrosine Kinase 3
  • Tyrosine-Protein Kinase TYRO4 4
  • Ephrin Type-A Receptor 3 3
  • Human Embryo Kinase 1 3
  • Human Embryo Kinase 4
  • EC 2.7.10 64
  • EphA3 2

External Ids for EPHA3 Gene

Previous Symbols for EPHA3 Gene

  • ETK
  • ETK1
  • TYRO4

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 pleomorphic rhabdomyosarcoma and colorectal cancer. Among its related pathways are GPCR Pathway and Akt Signaling. GO annotations related to this gene include GPI-linked ephrin receptor 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.

Gene Wiki entry for EPHA3 Gene

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

Genomics for EPHA3 Gene

Genomic Location for EPHA3 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EPHA3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHA3 Gene

Regulatory Elements for EPHA3 Gene

Proteins for EPHA3 Gene

  • 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

Post-translational modifications for EPHA3 Gene

  • Autophosphorylates upon activation by EFNA5. Phosphorylation on Tyr-602 mediates interaction with NCK1. Dephosphorylated by PTPN1.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn232, Asn337, Asn391, Asn404, and Asn493

Other Protein References for EPHA3 Gene

Domains for EPHA3 Gene

Gene Families for EPHA3 Gene

HGNC:
  • SAMD :Sterile alpha motif (SAM) domain containing
  • FN3 :Fibronectin type III domain containing
  • EPH :EPH receptors
IUPHAR :

UniProtKB/Swiss-Prot:

EPHA3_HUMAN
Domain:
  • Contains 1 Eph LBD (Eph ligand-binding) domain.:
    • P29320
  • Contains 2 fibronectin type-III domains.:
    • P29320
  • Contains 1 protein kinase domain.:
    • P29320
  • Contains 1 SAM (sterile alpha motif) domain.:
    • P29320
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.:
    • P29320
genes like me logo Genes that share domains with EPHA3: view

Function for EPHA3 Gene

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:0004672 protein kinase activity --
GO:0004713 protein tyrosine kinase activity --
GO:0005003 ephrin receptor activity --
GO:0005004 GPI-linked ephrin receptor activity IDA 11870224
GO:0005515 protein binding IPI 11870224
genes like me logo Genes that share ontologies with EPHA3: view
genes like me logo Genes that share phenotypes with EPHA3: view

Animal Models for EPHA3 Gene

MGI Knock Outs for EPHA3:

No data available for miRNA , Transcription Factor Targeting 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
extracellular 5
plasma membrane 5
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for EPHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005769 early endosome IDA 21135139
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 11870224
genes like me logo Genes that share ontologies with EPHA3: view

Pathways for EPHA3 Gene

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

Pathways by source for EPHA3 Gene

2 BioSystems pathways for EPHA3 Gene
1 KEGG pathway for EPHA3 Gene

Gene Ontology (GO) - Biological Process for EPHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation --
GO:0007155 cell adhesion IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway --
GO:0007411 axon guidance TAS --
GO:0010717 regulation of epithelial to mesenchymal transition ISS --
genes like me logo Genes that share ontologies with EPHA3: view

Compounds for EPHA3 Gene

(2) HMDB Compounds for EPHA3 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0

(48) Novoseek inferred chemical compound relationships for EPHA3 Gene

Compound -log(P) Hits PubMed IDs
tab-1 73.8 4
threonine 65.1 23
pd 98,059 59.7 9
tyrosine 57.3 20
serine 55 22
genes like me logo Genes that share compounds with EPHA3: view

Transcripts for EPHA3 Gene

Unigene Clusters for EPHA3 Gene

EPH receptor A3:
Representative Sequences:

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

mRNA expression in normal human tissues for EPHA3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression 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 expressions with EPHA3: view

Orthologs for EPHA3 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPHA3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPHA3 36
  • 99.39 (n)
  • 99.49 (a)
EPHA3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPHA3 36
  • 92.71 (n)
  • 97.46 (a)
EPHA3 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EPHA3 36
  • 88.85 (n)
  • 96.97 (a)
mouse
(Mus musculus)
Mammalia Epha3 36
  • 88.88 (n)
  • 96.54 (a)
Epha3 16
Epha3 37
  • 96 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPHA3 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EPHA3 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Epha3 36
  • 89.56 (n)
  • 95.73 (a)
chicken
(Gallus gallus)
Aves EPHA3 36
  • 82.23 (n)
  • 92.32 (a)
EPHA3 37
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EPHA3 37
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epha3 36
  • 77.76 (n)
  • 85.15 (a)
zebrafish
(Danio rerio)
Actinopterygii epha3 37
  • 83 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Eph 38
  • 40 (a)
hop 38
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea old-2 38
  • 32 (a)
old-1 38
  • 32 (a)
W04G5.10 38
  • 35 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.498 36
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

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 MAF
rs843908 -- 89,476,570(-) GTCAT(C/G)GAAAG intron-variant
rs870898 -- 89,367,914(+) GTGCT(C/T)CTCTG intron-variant
rs870899 -- 89,368,021(+) GTCTC(C/T)TTCAT intron-variant
rs870900 -- 89,368,137(+) TCATA(C/T)AATTA intron-variant
rs872976 -- 89,277,841(-) AAAAA(G/T)GAGAA intron-variant

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

Relevant External Links for EPHA3 Gene

HapMap Linkage Disequilibrium report
EPHA3
Human Gene Mutation Database (HGMD)
EPHA3

Disorders for EPHA3 Gene

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. Note=The gene represented in this entry may be involved in disease pathogenesis.

(25) Novoseek inferred disease relationships for EPHA3 Gene

Disease -log(P) Hits PubMed IDs
parkinson disease 51 16
parkinsonism 37.2 10
breast cancer 36.5 15
neurodegeneration 33.3 2
neurodegenerative diseases 31.3 1

Relevant External Links for EPHA3

Genetic Association Database (GAD)
EPHA3
Human Genome Epidemiology (HuGE) Navigator
EPHA3
genes like me logo Genes that share disorders with EPHA3: view

Publications for EPHA3 Gene

  1. Identification of a tumor-specific shared antigen derived from an Eph receptor and presented to CD4 T cells on HLA class II molecules. (PMID: 10987298) Chiari R. … Coulie P.G. (Cancer Res. 2000) 3 4 23
  2. 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 4 23
  3. 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
  4. Isolation and characterization of a novel receptor-type protein tyrosine kinase (hek) from a human pre-B cell line. (PMID: 1737782) Boyd A.W. … Busmanis I. (J. Biol. Chem. 1992) 2 3 4
  5. Low frequency mutation of the Ephrin receptor A3 gene in hepatocellular carcinoma. (PMID: 19469653) Bae H.J. … Nam S.W. (Neoplasma 2009) 3 23

Products for EPHA3 Gene

  • Addgene plasmids for EPHA3

Sources for EPHA3 Gene

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