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EPHA3 Gene(Protein Coding)

EPH Receptor A3

GCID:
GC03P089077
GIFtS:
55
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 56
  • 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
  • Ephrin Type-A Receptor 3 3
  • Human Embryo Kinase 1 3
  • Human Embryo Kinase 4
  • EC 2.7.10 56
  • 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 Beriberi and Kummell's Disease. Among its related pathways are Development Slit-Robo signaling and EPH-Ephrin signaling. Gene Ontology (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 EPHA5.

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

  • Eph receptors are the largest family of receptor tyrosine kinases (RTKs) and are divided into two subclasses, EphA and EphB. Originally identified as mediators of axon guidance, Eph receptors are implicated in many processes, particularly cancer development and progression.

Gene Wiki entry for EPHA3 Gene

Additional gene information for EPHA3 Gene

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

Genomics for EPHA3 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EPHA3 Gene

Promoters and enhancers for EPHA3 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
GH03I089107 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE 550.8 0.0 -23 0.6 PKNOX1 ARNT INSM2 MZF1 ZNF76 SIN3A ZNF2 IRF4 ZEB1 ZNF335 EPHA3 GC03M089046
GH03I089108 Promoter 0.8 Ensembl 550.8 +0.6 576 0.2 ZNF335 MXI1 L3MBTL2 ZNF341 PRDM10 ZNF600 ZBTB17 EPHA3 GC03P089148
GH03I089303 Enhancer 0.2 FANTOM5 9.5 +196.2 196178 0.4 EPHA3 GC03M089148 GC03P089376
GH03I088689 Enhancer 0.2 ENCODE 5.1 -416.8 -416783 2.2 EPHA3 GC03P088710 GC03P088601
GH03I089113 Enhancer 1 Ensembl ENCODE 0.4 +7.5 7524 2.7 PKNOX1 KLF17 SIN3A FEZF1 GLI4 ZNF2 ZNF48 RAD21 ZEB1 ZNF335 EPHA3 GC03P089148
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPHA3 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for EPHA3 Gene

Genomic Locations for EPHA3 Gene
chr3:89,107,524-89,482,134
(GRCh38/hg38)
Size:
374,611 bases
Orientation:
Plus strand
chr3:89,156,674-89,531,284
(GRCh37/hg19)

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

Protein Expression for EPHA3 Gene

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

Selected DME Specific Peptides for EPHA3 Gene

P29320:
  • QLVGMLRG
  • RDLAARN
  • GAGEFGEV
  • DTGGRKD
  • CKETFNL
  • RKFTSASD
  • LEDDPEAAYTT
  • KKCPFTV
  • AHTNYTFE
  • TTNQAAPS
  • GYTEKQRRDFL
  • FEFETSP
  • GMKYLSDM
  • SDVWSYGI
  • AQKIYVE
  • NVRFLPRQ
  • DTIAADE
  • MIVTEYMENGSLD
  • LAMFPDT
  • LDKLIRNP
  • ALVSVRV
  • FAKELDA
  • TYQVCNV
  • QETSYTI
  • EGEWLVPIGKC
  • NWLRTNW
  • RARTAAGYG
  • AAARPSNLLLDQSN
  • YRLPPPMDCP
  • LEGVVTKS
  • SLVEVRG
  • QAVHEFAKE
  • NLVCKVSDFGLSR
  • MSNQDVI
  • WEVMSYGERPY
  • KDRTSRNS
  • LSWQEPEHPNG
  • KFTLRDCNS
  • SGMKYLSDM
  • RPKFEQIV
  • IFTGVEYSSCDTIAKISTDDMKKVGVTVVGPQKKI
  • QNNWLRT
  • RWTSPEA
  • GLTNTTVTV
  • CNAGYEER
  • LAFQDVGAC
  • GFYLAFQD
  • NIIRLEGV
  • PNGIILDYE
  • YEVKYYEK
  • YVFQIRA
  • EASIMGQF
  • GWEEISG
  • QLMLDCW
  • LMLDCWQK
  • DPHTYEDP
  • SYGERPYW
  • IMGQFDHPNII
  • AAVSITT
  • DMGYVHRDLAARNIL
  • LDYEVKY
  • ACRPGFYKA

Post-translational modifications for EPHA3 Gene

  • Autophosphorylates upon activation by EFNA5. Phosphorylation on Tyr-602 mediates interaction with NCK1. Dephosphorylated by PTPN1.
  • Glycosylation at Asn232, Asn337, posLast=391391, posLast=404404, and Asn493

Other Protein References for EPHA3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for EPHA3 Gene

Gene Families for EPHA3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins

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 :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
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

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

Phenotypes From GWAS Catalog for EPHA3 Gene

Gene Ontology (GO) - Molecular Function for EPHA3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0005003 ephrin receptor activity IEA --
GO:0005004 GPI-linked ephrin receptor activity IDA 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:

Animal Model Products

Clone Products

  • Addgene plasmids for EPHA3

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
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 EPHA3 gene
Compartment Confidence
plasma membrane 5
endosome 5
extracellular 4
nucleus 2
cytosol 2
golgi apparatus 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Golgi apparatus (1)
  • Nucleoplasm (1)
See all subcellular structures

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,IEA 11870224
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with EPHA3: view

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:0007155 cell adhesion IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IEA --
GO:0010717 regulation of epithelial to mesenchymal transition ISS --
GO:0010976 positive regulation of neuron projection development IMP 17910947
genes like me logo Genes that share ontologies with EPHA3: view

Drugs & Compounds for EPHA3 Gene

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Investigational Nutra Agonist 0
KB004 Pharma 0

(22) 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

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:

Clone Products

  • Addgene plasmids for EPHA3

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for EPHA3 Gene

mRNA expression in normal human tissues for EPHA3 Gene
mRNA expression by GTEx for EPHA3 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for EPHA3 Gene



Protein tissue co-expression partners for EPHA3 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPHA3 Gene:

EPHA3

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.

Evidence on tissue expression from TISSUES for EPHA3 Gene

  • Nervous system(3.2)
genes like me logo Genes that share expression patterns with EPHA3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia EPHA3 34 33
  • 99.39 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia EPHA3 34
  • 93 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia EPHA3 34 33
  • 92.71 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Epha3 33
  • 89.56 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia EPHA3 34
  • 89 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Epha3 34 16 33
  • 88.88 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia EPHA3 33
  • 88.85 (n)
chicken
(Gallus gallus)
 Aves EPHA3 34 33
  • 82.23 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia EPHA3 34
  • 88 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia epha3 33
  • 77.76 (n)
zebrafish
(Danio rerio)
 Actinopterygii epha3 34
  • 83 (a)
 OneToOne
fruit fly
(Drosophila melanogaster)
 Insecta Eph 35
  • 40 (a)
hop 35
  • 40 (a)
worm
(Caenorhabditis elegans)
 Secernentea W04G5.10 35
  • 35 (a)
old-1 35
  • 32 (a)
old-2 35
  • 32 (a)
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.498 33
Species where no ortholog for EPHA3 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)
  • 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

Variants for EPHA3 Gene

Sequence variations from dbSNP and Humsavar for EPHA3 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs200567888 A pancreatic ductal adenocarcinoma sample 89,210,327(+) G/T coding_sequence_variant, missense_variant
rs372594677 A lung carcinoma sample 89,472,571(+) C/A/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant
VAR_036086 A colorectal cancer sample p.Thr37Lys
VAR_036087 A colorectal cancer sample p.Asn85Ser
VAR_036088 A colorectal cancer sample p.Ile621Leu

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

Variant ID Type Subtype PubMed ID
dgv106e203 CNV loss 21179565
dgv1390e212 CNV loss 25503493
dgv1391e212 CNV loss 25503493
dgv1392e212 CNV loss 25503493
dgv1393e212 CNV loss 25503493
dgv4804n100 CNV gain 25217958
dgv4805n100 CNV loss 25217958
dgv4806n100 CNV loss 25217958
dgv4807n100 CNV loss 25217958
dgv4808n100 CNV loss 25217958
dgv4809n100 CNV loss 25217958
dgv612n27 CNV loss 19166990
dgv8427n54 CNV loss 21841781
dgv8428n54 CNV loss 21841781
dgv8429n54 CNV loss 21841781
dgv8430n54 CNV loss 21841781
dgv8431n54 CNV loss 21841781
dgv8432n54 CNV loss 21841781
dgv8433n54 CNV loss 21841781
esv2156570 CNV deletion 18987734
esv2421597 CNV deletion 20811451
esv2490848 CNV deletion 19546169
esv2660172 CNV deletion 23128226
esv26625 CNV loss 19812545
esv2663816 CNV deletion 23128226
esv2667696 CNV deletion 23128226
esv2678650 CNV deletion 23128226
esv2725646 CNV deletion 23290073
esv2759160 CNV loss 17122850
esv33126 CNV loss 17666407
esv3400822 CNV duplication 20981092
esv3562208 CNV deletion 23714750
esv3562209 CNV deletion 23714750
esv3596945 CNV gain 21293372
esv3596946 CNV gain 21293372
esv3596949 CNV gain 21293372
esv3596951 CNV gain 21293372
esv3596952 CNV gain 21293372
esv3596953 CNV loss 21293372
esv3596954 CNV gain 21293372
esv3596955 CNV loss 21293372
esv3596957 CNV gain 21293372
esv3596958 CNV loss 21293372
esv3596960 CNV loss 21293372
esv3596961 CNV gain 21293372
esv3893738 CNV loss 25118596
esv3893739 CNV loss 25118596
nsv1002605 CNV gain 25217958
nsv1005603 CNV gain 25217958
nsv1008916 CNV loss 25217958
nsv1012663 CNV loss 25217958
nsv1012824 CNV gain 25217958
nsv1013893 CNV gain 25217958
nsv10290 CNV loss 18304495
nsv1072708 CNV deletion 25765185
nsv1115641 CNV duplication 24896259
nsv1143054 CNV tandem duplication 24896259
nsv1146774 CNV insertion 26484159
nsv1149851 CNV duplication 26484159
nsv1160962 CNV deletion 26073780
nsv3908 CNV deletion 18451855
nsv435764 CNV deletion 17901297
nsv437790 CNV loss 16327808
nsv437866 CNV loss 16468122
nsv441832 CNV loss 18776908
nsv474734 CNV novel sequence insertion 20440878
nsv499007 CNV loss 21111241
nsv508227 CNV deletion 20534489
nsv513057 CNV loss 21212237
nsv514159 CNV loss 21397061
nsv516852 CNV loss 19592680
nsv590921 CNV gain 21841781
nsv590928 CNV loss 21841781
nsv590929 CNV loss 21841781
nsv590930 CNV loss 21841781
nsv590938 CNV loss 21841781
nsv590952 CNV gain 21841781
nsv834760 CNV loss 17160897

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)

Additional Variant Information for EPHA3 Gene

Human Gene Mutation Database (HGMD)
EPHA3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHA3

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

Disorders for EPHA3 Gene

MalaCards: The human disease database

(7) MalaCards diseases for EPHA3 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
beriberi
  • thiamine deficiency
kummell's disease
  • kummell disease
ariboflavinosis
  • riboflavin deficiency
myelophthisic anemia
  • anemia leukoerythroblastic
cerebral artery occlusion
- 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.

Additional Disease Information for EPHA3

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

No data available for Genatlas for EPHA3 Gene

Publications for EPHA3 Gene

  1. Autoregulation by the juxtamembrane region of the human ephrin receptor tyrosine kinase A3 (EphA3). (PMID: 18547520) Davis TL … Dhe-Paganon S (Structure (London, England : 1993) 2008) 3 4 22 58
  2. 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 PG (Cancer research 2000) 3 4 22 58
  3. Molecular cloning of HEK, the gene encoding a receptor tyrosine kinase expressed by human lymphoid tumor cell lines. (PMID: 1311845) Wicks IP … Boyd AW (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 58
  4. Isolation and characterization of a novel receptor-type protein tyrosine kinase (hek) from a human pre-B cell line. (PMID: 1737782) Boyd AW … Busmanis I (The Journal of biological chemistry 1992) 2 3 4 58
  5. Mutational profiling of kinases in human tumours of pancreatic origin identifies candidate cancer genes in ductal and ampulla of vater carcinomas. (PMID: 20838624) Corbo V … Scarpa A (PloS one 2010) 3 4 58

Products for EPHA3 Gene

  • Addgene plasmids for EPHA3

Sources for EPHA3 Gene

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