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Aliases for EPHA2 Gene

Aliases for EPHA2 Gene

  • EPH Receptor A2 2 3 5
  • Tyrosine-Protein Kinase Receptor ECK 3 4
  • EC 2.7.10.1 4 61
  • ECK 3 4
  • Epithelial Cell Receptor Protein Tyrosine Kinase 3
  • Ephrin Type-A Receptor 2 3
  • Soluble EPHA2 Variant 1 3
  • Epithelial Cell Kinase 4
  • EC 2.7.10 61
  • CTRCT6 3
  • ARCC2 3
  • CTPP1 3
  • EphA2 2
  • CTPA 3

External Ids for EPHA2 Gene

Previous HGNC Symbols for EPHA2 Gene

  • ECK

Previous GeneCards Identifiers for EPHA2 Gene

  • GC01M015783
  • GC01M015564
  • GC01M015679
  • GC01M015831
  • GC01M016323
  • GC01M016450
  • GC01M014968

Summaries for EPHA2 Gene

Entrez Gene Summary for EPHA2 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. Mutations in this gene are the cause of certain genetically-related cataract disorders.[provided by RefSeq, May 2010]

GeneCards Summary for EPHA2 Gene

EPHA2 (EPH Receptor A2) is a Protein Coding gene. Diseases associated with EPHA2 include Cataract 6, Multiple Types and Early-Onset Posterior Subcapsular Cataract. Among its related pathways are GPCR Pathway and MAPK-Erk Pathway. 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 EPHA2 Gene

  • Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A 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. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis.

Tocris Summary for EPHA2 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 EPHA2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPHA2 Gene

Genomics for EPHA2 Gene

Regulatory Elements for EPHA2 Gene

Enhancers for EPHA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G016171 2 FANTOM5 Ensembl ENCODE dbSUPER 14.1 -22.3 -22331 13.9 MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF143 SP3 MEF2D SSRP1 ZNF610 SPEN RPL22P3 EIF1AXP1 LINC01772 ARHGEF19 EPHA2 FAM131C ENSG00000237938 RPS16P1 MFAP2
GH01G016142 2 FANTOM5 Ensembl ENCODE dbSUPER 11.7 +4.4 4427 17.5 MLX CREB3L1 FEZF1 DMAP1 YY1 ZNF143 SP3 NFYC MEF2D GLIS1 SPEN ENSG00000237938 EPHA2 FBXO42 RPL22P3 ARHGEF19 FBLIM1 FAM131C LOC101927479 GC01P016103
GH01G016161 1.6 Ensembl ENCODE dbSUPER 11.2 -7.8 -7785 4.6 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 ZNF2 FOS ARHGEF19-AS1 FAM131C ARHGEF19 EPHA2 ENSG00000224621 GC01P016173
GH01G016137 1.5 Ensembl ENCODE dbSUPER 7.1 +15.9 15896 4.9 HDGF PKNOX1 ZNF133 GLI4 ZNF121 GLIS2 GATA2 FOS ZNF592 MEF2D FAM131C SPEN RPL22P3 ENSG00000237938 RPS16P1 MFAP2 LINC01772 FBXO42 EPHA2 LOC101927479
GH01G016166 1 dbSUPER 6.2 -10.5 -10450 0.6 PKNOX1 ARNT ZNF493 ZFP64 GLIS2 ZNF302 KLF7 ZNF202 SP3 TSHZ1 SPEN RPL22P3 ENSG00000237938 LINC01772 FBXO42 ARHGEF19 ARHGEF19-AS1 EIF1AXP1 FAM131C SPATA21
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPHA2 on UCSC Golden Path with GeneCards custom track

Promoters for EPHA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000002018 887 2001 ARID4B SIN3A FOS SP3 SP5 MXD4 SMARCB1 KAT8 GLIS1 NBN

Genomic Location for EPHA2 Gene

Chromosome:
1
Start:
16,124,337 bp from pter
End:
16,156,087 bp from pter
Size:
31,751 bases
Orientation:
Minus strand

Genomic View for EPHA2 Gene

Genes around EPHA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPHA2 Gene

Proteins for EPHA2 Gene

  • Protein details for EPHA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29317-EPHA2_HUMAN
    Recommended name:
    Ephrin type-A receptor 2
    Protein Accession:
    P29317
    Secondary Accessions:
    • B5A968
    • Q8N3Z2

    Protein attributes for EPHA2 Gene

    Size:
    976 amino acids
    Molecular mass:
    108266 Da
    Quaternary structure:
    • Homodimer. Interacts with SLA. Interacts (phosphorylated form) with VAV2, VAV3 and PI3-kinase p85 subunit (PIK3R1, PIK3R2 or PIK3R3); critical for the EFNA1-induced activation of RAC1 which stimulates cell migration (By similarity). Interacts with INPPL1; regulates activated EPHA2 endocytosis and degradation. Interacts (inactivated form) with PTK2/FAK1 and interacts (EFNA1 ligand-activated form) with PTPN11; regulates integrin-mediated adhesion. Interacts with ARHGEF16, DOCK4 and ELMO2; mediates ligand-independent activation of RAC1 which stimulates cell migration. Interacts with CLDN4; phosphorylates CLDN4 and may regulate tight junctions. Interacts with ACP1. Interacts (via SAM domain) with ANKS1A (via SAM domain). Interacts with CEMIP. Interacts with NCK1; may regulate EPHA2 activity in cell migration and adhesion.
    • (Microbial infection) Interacts with human herpes virus 8/HHV-8 glycoprotein L/gL and glycoprotein H/gH heterodimer; this interaction triggers EPHA2 phosphorylation and endocytosis, allowing virus entry.

    Three dimensional structures from OCA and Proteopedia for EPHA2 Gene

    Alternative splice isoforms for EPHA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHA2 Gene

Selected DME Specific Peptides for EPHA2 Gene

P29317:
  • MNYVHRDLAARN
  • QLVGMLRG
  • RDLAARN
  • GAGEFGEV
  • RWTAPEAI
  • RKFTSASD
  • CKETFNL
  • SVRVYYKKCP
  • YVHRDLAARNILVN
  • CTRPPSAP
  • NWLRTNW
  • NLVCKVSDFGLSR
  • LPGHQKRI
  • GMLRGIAAGM
  • NIIRLEGV
  • GFYLAFQD
  • VAIKTLKAGY
  • TYEDPNQAV
  • DPHTYEDP
  • ELKFTVRDCNS

Post-translational modifications for EPHA2 Gene

  • Autophosphorylates. Phosphorylated on tyrosine upon binding and activation by EFNA1. Phosphorylated residues Tyr-588 and Tyr-594 are required for binding VAV2 and VAV3 while phosphorylated residues Tyr-735 and Tyr-930 are required for binding PI3-kinase p85 subunit (PIK3R1, PIK3R2 or PIK3R3). These phosphorylated residues are critical for recruitment of VAV2 and VAV3 and PI3-kinase p85 subunit which transduce downstream signaling to activate RAC1 GTPase and cell migration. Dephosphorylation of Tyr-930 by PTPRF prevents the interaction of EPHA2 with NCK1. Phosphorylated at Ser-897 by PKB; serum-induced phosphorylation which targets EPHA2 to the cell leading edge and stimulates cell migration. Phosphorylation by PKB is inhibited by EFNA1-activated EPHA2 which regulates PKB activity via a reciprocal regulatory loop. Phosphorylated at Ser-897 in response to TNF by RPS6KA1 and RPS6KA3; RPS6KA-EPHA2 signaling pathway controls cell migration (PubMed:26158630). Phosphorylated at Ser-897 by PKA; blocks cell retraction induced by EPHA2 kinase activity (PubMed:27385333). Dephosphorylated by ACP1.
  • Ubiquitinated by CHIP/STUB1. Ubiquitination is regulated by the HSP90 chaperone and regulates the receptor stability and activity through proteasomal degradation. ANKS1A prevents ubiquitination and degradation (By similarity).
  • Ubiquitination at Lys578
  • Glycosylation at Asn407 and isoforms=2435
  • Modification sites at PhosphoSitePlus

Other Protein References for EPHA2 Gene

Domains & Families for EPHA2 Gene

Graphical View of Domain Structure for InterPro Entry

P29317

UniProtKB/Swiss-Prot:

EPHA2_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 EPHA2: view

Function for EPHA2 Gene

Molecular function for EPHA2 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,highly expressed in metastatic melanoma cells
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-A 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. Activated by the ligand ephrin-A1/EFNA1 regulates migration, integrin-mediated adhesion, proliferation and differentiation of cells. Regulates cell adhesion and differentiation through DSG1/desmoglein-1 and inhibition of the ERK1/ERK2 (MAPK3/MAPK1, respectively) signaling pathway. May also participate in UV radiation-induced apoptosis and have a ligand-independent stimulatory effect on chemotactic cell migration. During development, may function in distinctive aspects of pattern formation and subsequently in development of several fetal tissues. Involved for instance in angiogenesis, in early hindbrain development and epithelial proliferation and branching morphogenesis during mammary gland development. Engaged by the ligand ephrin-A5/EFNA5 may regulate lens fiber cells shape and interactions and be important for lens transparency development and maintenance. With ephrin-A2/EFNA2 may play a role in bone remodeling through regulation of osteoclastogenesis and osteoblastogenesis.
UniProtKB/Swiss-Prot Induction:
Up-regulated by UV irradiation via a TP53-independent, MAPK-dependent mechanism.

Enzyme Numbers (IUBMB) for EPHA2 Gene

Gene Ontology (GO) - Molecular Function for EPHA2 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 IDA,IEA 10655584
GO:0005003 ephrin receptor activity IEA --
GO:0005515 protein binding IPI 10655584
genes like me logo Genes that share ontologies with EPHA2: view
genes like me logo Genes that share phenotypes with EPHA2: view

Human Phenotype Ontology for EPHA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EPHA2 Gene

MGI Knock Outs for EPHA2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPHA2

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for EPHA2 Gene

Localization for EPHA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHA2 Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, ruffle membrane; Single-pass type I membrane protein. Cell projection, lamellipodium membrane; Single-pass type I membrane protein. Cell junction, focal adhesion. Note=Present at regions of cell-cell contacts but also at the leading edge of migrating cells (PubMed:19573808, PubMed:20861311). Relocates from the plasma membrane to the cytoplasmic and perinuclear regions in cancer cells (PubMed:18794797). {ECO:0000269 PubMed:18794797, ECO:0000269 PubMed:19573808, ECO:0000269 PubMed:20861311, ECO:0000269 PubMed:26158630}.

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 EPHA2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
nucleus 2
peroxisome 1
endoplasmic reticulum 1
cytosol 1
endosome 1

Gene Ontology (GO) - Cellular Components for EPHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 10655584
GO:0005925 focal adhesion IEA,IDA 10655584
GO:0009986 cell surface IDA 19581412
genes like me logo Genes that share ontologies with EPHA2: view

Pathways & Interactions for EPHA2 Gene

genes like me logo Genes that share pathways with EPHA2: view

SIGNOR curated interactions for EPHA2 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for EPHA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IEA --
GO:0001525 angiogenesis IEA --
GO:0001568 blood vessel development IEA --
GO:0001570 vasculogenesis IEA --
GO:0001649 osteoblast differentiation ISS --
genes like me logo Genes that share ontologies with EPHA2: view

Drugs & Compounds for EPHA2 Gene

(9) Drugs for EPHA2 Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dasatinib Approved, Investigational Pharma Inhibition, inhibitor, Target, antagonist Kinase Inhibitors, SRC/BCR-ABL tyrosine kinase inhibitors 285
regorafenib Approved Pharma inhibitor, Target Inhibitor of VEGFR/PDGFR/FGFR/mutant kit/RET/Raf-1, Kinase Inhibitors, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
Sprycel Approved June 2006 Pharma 0
Stivarga Approved February 2013/ Approved September 2012 Pharma 0
Adenosine triphosphate Approved Nutra 0

(5) Additional Compounds for EPHA2 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 EPHA2: view

Transcripts for EPHA2 Gene

Unigene Clusters for EPHA2 Gene

EPH receptor A2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for EPHA2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPHA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: -

Relevant External Links for EPHA2 Gene

GeneLoc Exon Structure for
EPHA2
ECgene alternative splicing isoforms for
EPHA2

Expression for EPHA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPHA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPHA2 Gene

This gene is overexpressed in Esophagus - Mucosa (x10.7).

Protein differential expression in normal tissues from HIPED for EPHA2 Gene

This gene is overexpressed in Amniocyte (33.1) and Adrenal (14.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EPHA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of EPHA2 Gene:

EPHA2

SOURCE GeneReport for Unigene cluster for EPHA2 Gene:

Hs.171596

mRNA Expression by UniProt/SwissProt for EPHA2 Gene:

P29317-EPHA2_HUMAN
Tissue specificity: Expressed in brain and glioma tissue and glioma cell lines (at protein level). Expressed most highly in tissues that contain a high proportion of epithelial cells, e.g. skin, intestine, lung, and ovary.

Evidence on tissue expression from TISSUES for EPHA2 Gene

  • Pancreas(4.6)
  • Liver(4.4)
  • Lung(2.8)
  • Blood(2.4)
  • Intestine(2.4)
  • Heart(2.3)
  • Lymph node(2.2)
  • Nervous system(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHA2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with EPHA2: view

Primer Products

No data available for Protein tissue co-expression partners for EPHA2 Gene

Orthologs for EPHA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPHA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPHA2 34 35
  • 97.94 (n)
dog
(Canis familiaris)
Mammalia EPHA2 34 35
  • 90.5 (n)
cow
(Bos Taurus)
Mammalia EPHA2 34 35
  • 90.02 (n)
mouse
(Mus musculus)
Mammalia Epha2 34 16 35
  • 86.63 (n)
rat
(Rattus norvegicus)
Mammalia Epha2 34
  • 86.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EPHA2 35
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EPHA2 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPHA2 34 35
  • 75.94 (n)
lizard
(Anolis carolinensis)
Reptilia EPHA2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epha2 34
  • 73.13 (n)
African clawed frog
(Xenopus laevis)
Amphibia epha2-A 34
zebrafish
(Danio rerio)
Actinopterygii EPHA2 (2 of 2) 35
  • 59 (a)
OneToMany
epha2a 35
  • 55 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12568 34
fruit fly
(Drosophila melanogaster)
Insecta hop 36
  • 41 (a)
Eph 36 35
  • 37 (a)
worm
(Caenorhabditis elegans)
Secernentea kin-24 36
  • 32 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
CSA.1664 35
  • 37 (a)
ManyToMany
CSA.7809 35
  • 37 (a)
ManyToMany
Species where no ortholog for EPHA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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 EPHA2 Gene

ENSEMBL:
Gene Tree for EPHA2 (if available)
TreeFam:
Gene Tree for EPHA2 (if available)

Paralogs for EPHA2 Gene

genes like me logo Genes that share paralogs with EPHA2: view

Variants for EPHA2 Gene

Sequence variations from dbSNP and Humsavar for EPHA2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs116506614 Pathogenic, Cataract 6, multiple types (CTRCT6) [MIM:116600] 16,132,227(+) TGCCC(C/T)GCAGC reference, missense
rs137853199 Pathogenic, Cataract 6, multiple types (CTRCT6) [MIM:116600] 16,125,304(-) GGATT(G/T)GGGTG reference, missense
rs137853200 Pathogenic, Cataract 6, multiple types (CTRCT6) [MIM:116600] 16,129,440(-) GATGA(C/T)CAACG reference, missense
VAR_042124 A gastric adenocarcinoma sample
rs886041412 Pathogenic 16,125,329(-) CTCCC(A/G)GCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPHA2 Gene

Variant ID Type Subtype PubMed ID
nsv1126978 CNV deletion 24896259
nsv470699 CNV loss 18288195
nsv508936 CNV insertion 20534489
nsv520148 CNV loss 19592680
nsv524045 CNV loss 19592680
nsv833758 CNV gain+loss 17160897
nsv833869 CNV loss 17160897

Variation tolerance for EPHA2 Gene

Residual Variation Intolerance Score: 29.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.17; 61.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPHA2 Gene

Human Gene Mutation Database (HGMD)
EPHA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHA2 Gene

Disorders for EPHA2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for EPHA2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 6, multiple types
  • cataract 6 multiple types
early-onset posterior subcapsular cataract
cataract 16, multiple types
  • cataract 16 multiple types
early-onset nuclear cataract
cataract 44
  • ctrct44
- elite association - COSMIC cancer census association via MalaCards
Search EPHA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPHA2_HUMAN
  • Cataract 6, multiple types (CTRCT6) [MIM:116600]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision. {ECO:0000269 PubMed:19005574, ECO:0000269 PubMed:19306328, ECO:0000269 PubMed:19649315, ECO:0000269 PubMed:22570727}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Overexpressed in several cancer types and promotes malignancy. {ECO:0000269 PubMed:19573808}.

Relevant External Links for EPHA2

Genetic Association Database (GAD)
EPHA2
Human Genome Epidemiology (HuGE) Navigator
EPHA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPHA2
genes like me logo Genes that share disorders with EPHA2: view

No data available for Genatlas for EPHA2 Gene

Publications for EPHA2 Gene

  1. Ligand recognition by A-class Eph receptors: crystal structures of the EphA2 ligand-binding domain and the EphA2/ephrin-A1 complex. (PMID: 19525919) Himanen J.P. … Nikolov D.B. (EMBO Rep. 2009) 3 4 22 64
  2. EphA2 mediates ligand-dependent inhibition and ligand-independent promotion of cell migration and invasion via a reciprocal regulatory loop with Akt. (PMID: 19573808) Miao H. … Wang B. (Cancer Cell 2009) 3 4 22 64
  3. EphA2 is an essential mediator of UV radiation-induced apoptosis. (PMID: 18339848) Zhang G. … Tsao H. (Cancer Res. 2008) 3 4 22 64
  4. The EPHA2 gene is associated with cataracts linked to chromosome 1p. (PMID: 19005574) Shiels A. … Hejtmancik J.F. (Mol. Vis. 2008) 3 4 46 64
  5. Ephrin-A1 is a negative regulator in glioma through down-regulation of EphA2 and FAK. (PMID: 17332925) Liu D.-P. … Xie D. (Int. J. Oncol. 2007) 3 4 22 64

Products for EPHA2 Gene

Sources for EPHA2 Gene

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