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EPHB2 Gene(Protein Coding)

EPH Receptor B2

GCID:
GC01P022710
GIFtS:
61
Genes Participants
UDN Logo

Aliases for EPHB2 Gene

Aliases for EPHB2 Gene

  • EPH Receptor B2 2 3 5
  • Developmentally-Regulated Eph-Related Tyrosine Kinase 3 4
  • Tyrosine-Protein Kinase Receptor EPH-3 3 4
  • Renal Carcinoma Antigen NY-REN-47 3 4
  • Tyrosine-Protein Kinase TYRO5 3 4
  • EPH-Like Kinase 5 3 4
  • EC 2.7.10.1 4 56
  • Tyro5 3 4
  • EPHT3 3 4
  • Hek5 3 4
  • DRT 3 4
  • ERK 3 4
  • EK5 3 4
  • Protein-Tyrosine Kinase HEK5 3
  • Elk-Related Tyrosine Kinase 3
  • ELK-Related Tyrosine Kinase 4
  • Ephrin Type-B Receptor 2 3
  • Eph Tyrosine Kinase 3 3
  • EPH Tyrosine Kinase 3 4
  • EC 2.7.10 56
  • EphB2 2
  • EPTH3 4
  • CAPB 3
  • PCBC 3

External Ids for EPHB2 Gene

Previous HGNC Symbols for EPHB2 Gene

  • DRT
  • ERK
  • EPHT3

Previous GeneCards Identifiers for EPHB2 Gene

  • GC01P022677
  • GC01P022143
  • GC01P022506
  • GC01P022782
  • GC01P022910
  • GC01P023037
  • GC01P021351

Summaries for EPHB2 Gene

Entrez Gene Summary for EPHB2 Gene

  • This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a transmembrane region and an intracellular kinase domain. They bind ligands called ephrins and are involved in diverse cellular processes including motility, division, and differentiation. A distinguishing characteristic of Eph-ephrin signaling is that both receptors and ligands are competent to transduce a signaling cascade, resulting in bidirectional signaling. This protein belongs to a subgroup of the Eph receptors called EphB. Proteins of this subgroup are distinguished from other members of the family by sequence homology and preferential binding affinity for membrane-bound ephrin-B ligands. Allelic variants are associated with prostate and brain cancer susceptibility. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

GeneCards Summary for EPHB2 Gene

EPHB2 (EPH Receptor B2) is a Protein Coding gene. Diseases associated with EPHB2 include Prostate Cancer/Brain Cancer Susceptibility and Prostate Cancer. Among its related pathways are EPH-Ephrin signaling and NLR Proteins. 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 EPHB1.

UniProtKB/Swiss-Prot for EPHB2 Gene

  • Receptor tyrosine kinase which binds promiscuously transmembrane ephrin-B 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. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral cortex. Also involved in guidance of contralateral inner ear efferent growth cones at the midline and of retinal ganglion cell axons to the optic disk. In addition to axon guidance, also regulates dendritic spines development and maturation and stimulates the formation of excitatory synapses. Upon activation by EFNB1, abolishes the ARHGEF15-mediated negative regulation on excitatory synapse formation. Controls other aspects of development including angiogenesis, palate development and in inner ear development through regulation of endolymph production. Forward and reverse signaling through the EFNB2/EPHB2 complex regulate movement and adhesion of cells that tubularize the urethra and septate the cloaca. May function as a tumor suppressor.

Tocris Summary for EPHB2 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 EPHB2 Gene

Additional gene information for EPHB2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPHB2 Gene

Genomics for EPHB2 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for EPHB2 Gene

Promoters and enhancers for EPHB2 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
GH01I022712 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 550.8 +0.2 212 1.6 MXI1 ARNT ZNF449 ZIC2 ZNF335 FOXM1 ZNF121 ZFHX2 GLIS2 POLR2A EPHB2 TCEA3 MIR4684
GH01I022711 Enhancer 1 ENCODE dbSUPER 550.8 +1.8 1771 1.2 ATF1 RB1 BATF IRF4 GLIS2 ATF7 ETV6 FOS BCLAF1 IKZF2 EPHB2 ENSG00000225952 KDM1A MIR4684
GH01I022710 Enhancer 0.8 ENCODE dbSUPER 550.8 -0.7 -687 0.2 MAZ ZNF740 ZNF121 ZNF335 ZFHX2 GLIS2 ZBTB48 PATZ1 KLF9 PRDM10 EPHB2 GC01P022705
GH01I022708 Enhancer 0.7 FANTOM5 Ensembl 550.8 -1.5 -1495 0.8 ZNF664 CTCF ZFP36 EPHB2 GC01P022705
GH01I022824 Enhancer 1.3 Ensembl ENCODE dbSUPER 22.6 +118.2 118164 8.4 NFXL1 RAD21 BRCA1 YY1 ZSCAN5C RCOR1 FOS EGR2 SMARCA5 SMARCC1 KDM1A LINC01355 EPHB2 ELOA ZNF436-AS1 HNRNPR ENSG00000225952 GC01M022785
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EPHB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EPHB2 gene promoter:

Genomic Locations for EPHB2 Gene

Genomic Locations for EPHB2 Gene
chr1:22,710,770-22,921,500
(GRCh38/hg38)
Size:
210,731 bases
Orientation:
Plus strand
chr1:23,037,331-23,241,823
(GRCh37/hg19)

Genomic View for EPHB2 Gene

Genes around EPHB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPHB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPHB2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for EPHB2 Gene

Proteins for EPHB2 Gene

Products:

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  • Protein details for EPHB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P29323-EPHB2_HUMAN
    Recommended name:
    Ephrin type-B receptor 2
    Protein Accession:
    P29323
    Secondary Accessions:
    • O43477
    • Q5T0U6
    • Q5T0U7
    • Q5T0U8

    Protein attributes for EPHB2 Gene

    Size:
    1055 amino acids
    Molecular mass:
    117493 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 (By similarity). Interacts (via PDZ-binding motif) with GRIP1 and PICK1 (via PDZ domain) (By similarity). Interacts with ARHGEF15; mediates ARHGEF15 phosphorylation, ubiquitination and degradation by the proteasome. Interacts with AQP1; involved in endolymph production in the inner ear.

    Three dimensional structures from OCA and Proteopedia for EPHB2 Gene

    Alternative splice isoforms for EPHB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EPHB2 Gene

Protein Expression for EPHB2 Gene

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

Selected DME Specific Peptides for EPHB2 Gene

P29323:
  • MNYVHRDLAARN
  • QLVGMLRG
  • RDLAARN
  • GAGEFGEV
  • RWTAPEAI
  • WSYGIVMWEVMS
  • CKETFNL
  • RKFTSASD
  • RRGFERADSEYTDKLQHYTSGH
  • PPSGWEE
  • TTNQAAPS
  • GYTEKQRRDFL
  • FQETLSGAESTSLVA
  • YIDPFTYEDPNEAV
  • SDVWSYGI
  • DTIAADE
  • YVHRDLAARNILVN
  • SDPTYTS
  • TYQVCNV
  • GERPYWD
  • YRLPPPMDCP
  • PRQLGLT
  • LEGVVTKS
  • NLVCKVSDFGLSR
  • WEVMSYGERPY
  • PVMIITE
  • LDSFLRQ
  • LDKMIRNP
  • QNNWLRT
  • QPDQPNGVILDY
  • GWEEVSGYDE
  • CNGDGEW
  • REFAKEID
  • TEFMENG
  • GMLRGIAAGM
  • GFYLAFQD
  • DGQFTVIQL
  • EASIMGQF
  • IRNPNSLK
  • QLMLDCW
  • TATAELGW
  • LMLDCWQK
  • LAGHQKKIL
  • SYGERPYW
  • QVRARTVAGYGRYS
  • LKLPGKR
  • AEEVDVPIK
  • YSGKMYFQT

Post-translational modifications for EPHB2 Gene

  • Glycosylation at Asn265, Asn336, posLast=428428, and posLast=482482
  • Modification sites at PhosphoSitePlus

Other Protein References for EPHB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for EPHB2 Gene

Gene Families for EPHB2 Gene

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

Protein Domains for EPHB2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EPHB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P29323

UniProtKB/Swiss-Prot:

EPHB2_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 EPHB2: view

Function for EPHB2 Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for EPHB2 Gene

GENATLAS Biochemistry:
EPH-related tyrosine kinase receptor,binding ephrins B,expressed in projecting neurons and their target fields,involved in short-range contact-mediated axonal guidance,developmentally regulated,expressed in brain,and other tissues,likely involved in neurogenesis and oncogenesis (neuroblastoma,SCLC),phosphorylating and interacting with RRAS to control integrin activity
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 transmembrane ephrin-B 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. Functions in axon guidance during development. Involved in the guidance of commissural axons, that form a major interhemispheric connection between the 2 temporal lobes of the cerebral cortex. Also involved in guidance of contralateral inner ear efferent growth cones at the midline and of retinal ganglion cell axons to the optic disk. In addition to axon guidance, also regulates dendritic spines development and maturation and stimulates the formation of excitatory synapses. Upon activation by EFNB1, abolishes the ARHGEF15-mediated negative regulation on excitatory synapse formation. Controls other aspects of development including angiogenesis, palate development and in inner ear development through regulation of endolymph production. Forward and reverse signaling through the EFNB2/EPHB2 complex regulate movement and adhesion of cells that tubularize the urethra and septate the cloaca. May function as a tumor suppressor.

Enzyme Numbers (IUBMB) for EPHB2 Gene

Phenotypes From GWAS Catalog for EPHB2 Gene

Gene Ontology (GO) - Molecular Function for EPHB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001540 amyloid-beta binding ISS --
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity ISS,IEA --
GO:0004714 transmembrane receptor protein tyrosine kinase activity IEA --
GO:0004872 receptor activity IEA --
genes like me logo Genes that share ontologies with EPHB2: view
genes like me logo Genes that share phenotypes with EPHB2: view

Animal Models for EPHB2 Gene

MGI Knock Outs for EPHB2:

Animal Model Products

Clone Products

  • Addgene plasmids for EPHB2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPHB2 Gene

Localization for EPHB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPHB2 Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, axon. Cell projection, dendrite.

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 EPHB2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 4
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPHB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005634 nucleus IDA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,TAS --
GO:0005887 integral component of plasma membrane IEA,ISS --
genes like me logo Genes that share ontologies with EPHB2: view

Pathways & Interactions for EPHB2 Gene

genes like me logo Genes that share pathways with EPHB2: view

SIGNOR curated interactions for EPHB2 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for EPHB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000902 cell morphogenesis IEA --
GO:0001525 angiogenesis ISS --
GO:0001655 urogenital system development ISS --
GO:0001933 negative regulation of protein phosphorylation ISS --
GO:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with EPHB2: view

Drugs & Compounds for EPHB2 Gene

Products:

  1. Drug

(10) Drugs for EPHB2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoaminophosphonic Acid-Adenylate Ester Experimental Pharma Target 0
ATP Investigational Nutra Agonist 0

(8) Additional Compounds for EPHB2 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 EPHB2: view

Transcripts for EPHB2 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for EPHB2 Gene

(6) REFSEQ mRNAs :
(14) Additional mRNA sequences :
(135) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for EPHB2 Gene

EPH receptor B2:
Representative Sequences:

Clone Products

  • Addgene plasmids for EPHB2

Alternative Splicing Database (ASD) splice patterns (SP) for EPHB2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: - - -
SP2: - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for EPHB2 Gene

GeneLoc Exon Structure for
EPHB2
ECgene alternative splicing isoforms for
EPHB2

Expression for EPHB2 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPHB2 Gene

mRNA expression in normal human tissues for EPHB2 Gene
mRNA expression by GTEx for EPHB2 GenemRNA expression by BioGPS for EPHB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for EPHB2 Gene

This gene is overexpressed in Colon - Transverse (x6.7).

Protein differential expression in normal tissues from HIPED for EPHB2 Gene

This gene is overexpressed in Fetal Brain (37.6) and Ovary (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EPHB2 Gene



Protein tissue co-expression partners for EPHB2 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPHB2 Gene:

EPHB2

SOURCE GeneReport for Unigene cluster for EPHB2 Gene:

Hs.523329

mRNA Expression by UniProt/SwissProt for EPHB2 Gene:

P29323-EPHB2_HUMAN
Tissue specificity: Brain, heart, lung, kidney, placenta, pancreas, liver and skeletal muscle. Preferentially expressed in fetal brain.

Evidence on tissue expression from TISSUES for EPHB2 Gene

  • Nervous system(4.6)
  • Intestine(3.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EPHB2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • reproductive
Regions:
Head and neck:
  • brain
  • cerebellum
  • head
Pelvis:
  • prostate
General:
  • spinal cord
genes like me logo Genes that share expression patterns with EPHB2: view

Orthologs for EPHB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPHB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia EPHB2 34 33
  • 99.65 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia EPHB2 34
  • 96 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia EPHB2 33 34
  • 93.46 (n)
cow
(Bos Taurus)
 Mammalia EPHB2 33 34
  • 92.52 (n)
rat
(Rattus norvegicus)
 Mammalia Ephb2 33
  • 91.21 (n)
mouse
(Mus musculus)
 Mammalia Ephb2 33 16 34
  • 90.94 (n)
chicken
(Gallus gallus)
 Aves EPHB2 33 34
  • 84.64 (n)
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 93 (a)
 OneToMany
-- 34
  • 63 (a)
 OneToMany
African clawed frog
(Xenopus laevis)
 Amphibia Xl.506 33
zebrafish
(Danio rerio)
 Actinopterygii ephb2b 34
  • 88 (a)
 OneToMany
ephb2a 34
  • 83 (a)
 OneToMany
ephb2 33
  • 77.65 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Eph 35 34
  • 42 (a)
hop 35
  • 39 (a)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 45 (a)
 ManyToMany
-- 34
  • 43 (a)
 ManyToMany
CSA.7809 34
  • 41 (a)
 ManyToMany
CSA.1664 34
  • 40 (a)
 ManyToMany
Species where no ortholog for EPHB2 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for EPHB2 Gene

ENSEMBL:
Gene Tree for EPHB2 (if available)
TreeFam:
Gene Tree for EPHB2 (if available)

Paralogs for EPHB2 Gene

Paralogs for EPHB2 Gene

(32) SIMAP similar genes for EPHB2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with EPHB2: view

Variants for EPHB2 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for EPHB2 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs121912582 pathogenic, Prostate cancer/brain cancer susceptibility 22,907,980(+) C/T coding_sequence_variant, stop_gained
rs138551214 likely-pathogenic, Colorectal Neoplasms 22,909,025(+) G/A coding_sequence_variant, missense_variant
rs142173175 Prostate cancer (PC) [MIM:176807] 22,906,770(+) T/C coding_sequence_variant, missense_variant
rs150803261 likely-benign, Peters anomaly 22,785,052(+) G/A coding_sequence_variant, missense_variant
rs201754821 Prostate cancer (PC) [MIM:176807] 22,784,861(+) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for EPHB2 Gene

Variant ID Type Subtype PubMed ID
esv1389294 CNV deletion 17803354
esv2538911 CNV insertion 19546169
esv34161 CNV loss 18971310
esv3577785 CNV loss 25503493
nsv1012432 CNV loss 25217958
nsv1075734 CNV deletion 25765185
nsv1116592 CNV tandem duplication 24896259
nsv1118106 CNV deletion 24896259
nsv469829 CNV loss 16826518
nsv476503 CNV novel sequence insertion 20440878
nsv481144 CNV novel sequence insertion 20440878
nsv509036 CNV insertion 20534489
nsv512725 CNV insertion 21212237
nsv528926 CNV loss 19592680
nsv6409 CNV insertion 18451855

Variation tolerance for EPHB2 Gene

Residual Variation Intolerance Score: 2.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.95; 49.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EPHB2 Gene

Human Gene Mutation Database (HGMD)
EPHB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPHB2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPHB2 Gene

Disorders for EPHB2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for EPHB2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search EPHB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

EPHB2_HUMAN
  • Prostate cancer (PC) [MIM:176807]: A malignancy originating in tissues of the prostate. Most prostate cancers are adenocarcinomas that develop in the acini of the prostatic ducts. Other rare histopathologic types of prostate cancer that occur in approximately 5% of patients include small cell carcinoma, mucinous carcinoma, prostatic ductal carcinoma, transitional cell carcinoma, squamous cell carcinoma, basal cell carcinoma, adenoid cystic carcinoma (basaloid), signet-ring cell carcinoma and neuroendocrine carcinoma. {ECO:0000269 PubMed:15300251, ECO:0000269 PubMed:16155194}. Note=The gene represented in this entry may be involved in disease pathogenesis. EPHB2 mutations have been found in a prostate cancer cell line derived from a brain metastasis.

Additional Disease Information for EPHB2

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 EPHB2: view

No data available for Genatlas for EPHB2 Gene

Publications for EPHB2 Gene

  1. A common nonsense mutation in EphB2 is associated with prostate cancer risk in African American men with a positive family history. (PMID: 16155194) Kittles RA … Carpten JD (Journal of medical genetics 2006) 3 4 22 44 58
  2. eek and erk, new members of the eph subclass of receptor protein-tyrosine kinases. (PMID: 1648701) Chan J … Watt VM (Oncogene 1991) 2 3 4 22 58
  3. EPHB2 germline variants in patients with colorectal cancer or hyperplastic polyposis. (PMID: 16740153) Kokko A … Aaltonen LA (BMC cancer 2006) 3 22 44 58
  4. Oligomeric structure of the human EphB2 receptor SAM domain. (PMID: 9933164) Thanos CD … Bowie JU (Science (New York, N.Y.) 1999) 3 4 22 58
  5. A variant transcript encoding an isoform of the human protein tyrosine kinase EPHB2 is generated by alternative splicing and alternative use of polyadenylation signals. (PMID: 9696046) Tang XX … Ikegaki N (Oncogene 1998) 3 4 22 58

Products for EPHB2 Gene

  • Addgene plasmids for EPHB2

Sources for EPHB2 Gene

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