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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]
EPHB2 (EPH Receptor B2) is a Protein Coding gene. Diseases associated with EPHB2 include Bleeding Disorder, Platelet-Type, 22 and Prostate Cancer/Brain Cancer Susceptibility. Among its related pathways are Neuroscience and Activation of cAMP-Dependent PKA. 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.
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.
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 |
---|---|---|---|---|---|---|---|---|---|---|
GH01J022710 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER | 600.7 | +0.7 | 691 | 3.3 | PRDM10 ZNF692 RELA ZIC2 POLR2A PATZ1 TCF12 ZNF740 IKZF2 ZNF600 | EPHB2 ENSG00000225952 TCEA3 KDM1A MIR4684 LACTBL1 | |
GH01J022709 | Enhancer | 0.4 | CraniofacialAtlas | 600.7 | -1.2 | -1162 | 0.2 | CTCF RAD21 ZFP36 | EPHB2 piR-61101-006 C1QB | |
GH01J022708 | Enhancer | 0.3 | FANTOM5 | 600.7 | -1.8 | -1804 | 0.2 | ZNF664 | EPHB2 piR-61101-006 C1QB | |
GH01J022824 | Enhancer | 1.3 | Ensembl ENCODE CraniofacialAtlas dbSUPER | 22.6 | +119.0 | 118999 | 10.1 | CREB1 PRDM10 ZNF629 SP1 ZNF600 ZNF341 MNT CEBPB SMARCC1 JUND | EPHB2 KDM1A LINC01355 ELOA ENSG00000225952 lnc-C1QB-2 LACTBL1 | |
GH01J022805 | Enhancer | 1.1 | Ensembl ENCODE CraniofacialAtlas dbSUPER | 26 | +96.1 | 96092 | 5.7 | KDM1A FOS NR2F2 ZFHX2 MAFK ATM ZNF366 RXRA PRDM10 ZNF398 | EPHB2 ENSG00000225952 ZBTB40 lnc-C1QB-2 LACTBL1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0001540 | amyloid-beta binding | TAS | 26871627 |
GO:0004672 | protein kinase activity | IEA | -- |
GO:0004713 | protein tyrosine kinase activity | IEA,ISS | -- |
GO:0004714 | transmembrane receptor protein tyrosine kinase activity | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005829 | cytosol | TAS | -- |
GO:0005886 | plasma membrane | IDA,TAS | -- |
GO:0005887 | integral component of plasma membrane | IEA,ISS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
P2Y Receptor Signaling
.38
|
2 | EPH-Ephrin signaling |
Cell adhesion Ephrins signaling
.35
|
.01
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Nanog in Mammalian ESC Pluripotency |
GSK3 Signaling
.62
Nanog in Mammalian ESC Pluripotency
.62
|
14-3-3 Induced Intracellular Signaling
.59
eNOS Signaling
.48
|
5 | MAPK Erk Pathway |
.32
|
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 | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
fostamatinib | Approved, Investigational | Pharma | Target, inhibitor | Kinase Inhibitors | 0 | |
Phosphoaminophosphonic Acid-Adenylate Ester | Experimental | Pharma | Target | 0 | ||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EPHB2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EPHB2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EPHB2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | EPHB2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ephb2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ephb2 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EPHB2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.506 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ephb2b 31 |
|
OneToMany | |
ephb2a 31 |
|
OneToMany | |||
ephb2 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Eph 31 32 |
|
OneToMany | |
hop 32 |
|
|
|||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
CSA.7809 31 |
|
ManyToMany | |||
CSA.1664 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
711269 | Likely Benign: not provided | 22,892,884(+) | G/A | MISSENSE_VARIANT | |
717437 | Benign: not provided | 22,896,435(+) | C/T | SYNONYMOUS_VARIANT,INTRON_VARIANT | |
722170 | Likely Benign: not provided | 22,895,590(+) | G/A | INTRON_VARIANT | |
724716 | Likely Benign: not provided | 22,906,948(+) | C/T | SYNONYMOUS_VARIANT | |
725130 | Likely Benign: not provided | 22,908,042(+) | T/C | SYNONYMOUS_VARIANT |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
bleeding disorder, platelet-type, 22 |
|
|
prostate cancer/brain cancer susceptibility |
|
|
prostate cancer |
|
|
brain cancer |
|
|
transitional cell carcinoma |
|
|