Gene: EPHB2

Basic information

Tag Content
Uniprot ID P29323; O43477; Q5T0U6; Q5T0U7; Q5T0U8;
Entrez ID 2048
Genbank protein ID CAA41981.1; AAA74244.1; BAA07073.1; AAA99310.1; BAA03537.1; AAB94602.1; BAA06506.1;
Genbank nucleotide ID NM_017449.4; NM_004442.7; NM_001309193.1;
Ensembl protein ID ENSP00000383053; ENSP00000363761; ENSP00000363763;
Ensembl nucleotide ID ENSG00000133216
Gene name Ephrin type-B receptor 2
Gene symbol EPHB2
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description 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. May be involved in the regulation of platelet activation and blood coagulation (PubMed:30213874).
Sequence
MALRRLGAAL LLLPLLAAVE ETLMDSTTAT AELGWMVHPP SGWEEVSGYD ENMNTIRTYQ 60
VCNVFESSQN NWLRTKFIRR RGAHRIHVEM KFSVRDCSSI PSVPGSCKET FNLYYYEADF 120
DSATKTFPNW MENPWVKVDT IAADESFSQV DLGGRVMKIN TEVRSFGPVS RSGFYLAFQD 180
YGGCMSLIAV RVFYRKCPRI IQNGAIFQET LSGAESTSLV AARGSCIANA EEVDVPIKLY 240
CNGDGEWLVP IGRCMCKAGF EAVENGTVCR GCPSGTFKAN QGDEACTHCP INSRTTSEGA 300
TNCVCRNGYY RADLDPLDMP CTTIPSAPQA VISSVNETSL MLEWTPPRDS GGREDLVYNI 360
ICKSCGSGRG ACTRCGDNVQ YAPRQLGLTE PRIYISDLLA HTQYTFEIQA VNGVTDQSPF 420
SPQFASVNIT TNQAAPSAVS IMHQVSRTVD SITLSWSQPD QPNGVILDYE LQYYEKELSE 480
YNATAIKSPT NTVTVQGLKA GAIYVFQVRA RTVAGYGRYS GKMYFQTMTE AEYQTSIQEK 540
LPLIIGSSAA GLVFLIAVVV IAIVCNRRGF ERADSEYTDK LQHYTSGHMT PGMKIYIDPF 600
TYEDPNEAVR EFAKEIDISC VKIEQVIGAG EFGEVCSGHL KLPGKREIFV AIKTLKSGYT 660
EKQRRDFLSE ASIMGQFDHP NVIHLEGVVT KSTPVMIITE FMENGSLDSF LRQNDGQFTV 720
IQLVGMLRGI AAGMKYLADM NYVHRDLAAR NILVNSNLVC KVSDFGLSRF LEDDTSDPTY 780
TSALGGKIPI RWTAPEAIQY RKFTSASDVW SYGIVMWEVM SYGERPYWDM TNQDVINAIE 840
QDYRLPPPMD CPSALHQLML DCWQKDRNHR PKFGQIVNTL DKMIRNPNSL KAMAPLSSGI 900
NLPLLDRTIP DYTSFNTVDE WLEAIKMGQY KESFANAGFT SFDVVSQMMM EDILRVGVTL 960
AGHQKKILNS IQVMRAQMNQ IQSVEGQPLA RRPRATGRTK RCQPRDVTKK TCNSNDGKKK 1020
GMGKKKTDPG RGREIQGIFF KEDSHKESND CSCGG 1055

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologEPHB2102186352A0A452FQI3Capra hircusPredictionMore>>
1:1 orthologEPHB22048P29323Homo sapiensPredictionMore>>
1:1 orthologEphb213844P54763CPOE12.5, E13.5, E14.5Mus musculusPublicationMore>>
1:1 orthologEPHB2456613K7CN32Pan troglodytesPredictionMore>>
1:1 orthologEPHB2I3L7R2Sus scrofaPredictionMore>>
1:1 orthologEphb2A0A0G2JY48Rattus norvegicusPredictionMore>>
1:1 orthologephb2b554232A2CEJ3Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0001540 amyloid-beta bindingISS
GO:0001540 amyloid-beta bindingTAS
GO:0004713 protein tyrosine kinase activityISS
GO:0004714 transmembrane receptor protein tyrosine kinase activityIBA
GO:0005005 transmembrane-ephrin receptor activityISS
GO:0005005 transmembrane-ephrin receptor activityTAS
GO:0005102 signaling receptor bindingIEA
GO:0005515 protein bindingIPI
GO:0005524 ATP bindingIEA
GO:0008046 axon guidance receptor activityIEA
GO:0042802 identical protein bindingIEA
GO:0044877 protein-containing complex bindingISS

GO:Biological Process

GO ID GO Term Evidence
GO:0001525 angiogenesisISS
GO:0001655 urogenital system developmentISS
GO:0001933 negative regulation of protein phosphorylationISS
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathwayIBA
GO:0007275 multicellular organism developmentIBA
GO:0007399 nervous system developmentTAS
GO:0007411 axon guidanceISS
GO:0007413 axonal fasciculationISS
GO:0007611 learning or memoryISS
GO:0007612 learningISS
GO:0010628 positive regulation of gene expressionISS
GO:0016310 phosphorylationISS
GO:0018108 peptidyl-tyrosine phosphorylationISS
GO:0021631 optic nerve morphogenesisIEA
GO:0021952 central nervous system projection neuron axonogenesisIBA
GO:0022038 corpus callosum developmentISS
GO:0030193 regulation of blood coagulationIMP
GO:0031290 retinal ganglion cell axon guidanceIEA
GO:0031915 positive regulation of synaptic plasticityISS
GO:0033674 positive regulation of kinase activityIBA
GO:0042472 inner ear morphogenesisISS
GO:0046580 negative regulation of Ras protein signal transductionISS
GO:0048013 ephrin receptor signaling pathwayISS
GO:0048013 ephrin receptor signaling pathwayTAS
GO:0048168 regulation of neuronal synaptic plasticityISS
GO:0048170 positive regulation of long-term neuronal synaptic plasticityIEA
GO:0048593 camera-type eye morphogenesisIEA
GO:0050771 negative regulation of axonogenesisIEA
GO:0050878 regulation of body fluid levelsISS
GO:0051389 inactivation of MAPKK activityISS
GO:0051965 positive regulation of synapse assemblyISS
GO:0060021 roof of mouth developmentISS
GO:0060996 dendritic spine developmentISS
GO:0060997 dendritic spine morphogenesisISS
GO:0070373 negative regulation of ERK1 and ERK2 cascadeISS
GO:0071679 commissural neuron axon guidanceISS
GO:0097104 postsynaptic membrane assemblyIEA
GO:0099557 trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmissionIEA
GO:0106028 neuron projection retractionIEA
GO:1900273 positive regulation of long-term synaptic potentiationISS
GO:1903078 positive regulation of protein localization to plasma membraneISS
GO:1904782 negative regulation of NMDA glutamate receptor activityISS
GO:1904783 positive regulation of NMDA glutamate receptor activityISS

GO:Cellular Component

GO ID GO Term Evidence
GO:0005576 extracellular regionTAS
GO:0005654 nucleoplasmIDA
GO:0005829 cytosolTAS
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneTAS
GO:0005887 integral component of plasma membraneISS
GO:0005887 integral component of plasma membraneIBA
GO:0030424 axonISS
GO:0030425 dendriteISS
GO:0043025 neuronal cell bodyIEA
GO:0043235 receptor complexIBA
GO:0098794 postsynapseTAS
GO:0098978 glutamatergic synapseIEA
GO:0099055 integral component of postsynaptic membraneIEA
GO:0099056 integral component of presynaptic membraneIEA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-2682334 EPH-Ephrin signalingTAS
R-HSA-2682334 EPH-Ephrin signalingIEA
R-HSA-373760 L1CAM interactionsIEA
R-HSA-3928662 EPHB-mediated forward signalingTAS
R-HSA-3928662 EPHB-mediated forward signalingIEA
R-HSA-3928664 Ephrin signalingIEA
R-HSA-3928664 Ephrin signalingTAS
R-HSA-3928665 EPH-ephrin mediated repulsion of cellsTAS
R-HSA-422475 Axon guidanceTAS
R-HSA-422475 Axon guidanceIEA

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-0067 ATP-binding
KW-1003 Cell membrane
KW-0966 Cell projection
KW-0217 Developmental protein
KW-0225 Disease mutation
KW-1015 Disulfide bond
KW-0325 Glycoprotein
KW-0418 Kinase
KW-0472 Membrane
KW-0524 Neurogenesis
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-0675 Receptor
KW-1185 Reference proteome
KW-0677 Repeat
KW-0732 Signal
KW-0808 Transferase
KW-0812 Transmembrane
KW-1133 Transmembrane helix
KW-0043 Tumor suppressor
KW-0829 Tyrosine-protein kinase
KW-0832 Ubl conjugation

Interpro

InterPro ID InterPro Term
IPR027936 Eph_TM
IPR034238 EphB2_rcpt_lig-bd
IPR001090 Ephrin_rcpt_lig-bd_dom
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR008979 Galactose-bd-like_sf
IPR009030 Growth_fac_rcpt_cys_sf
IPR013783 Ig-like_fold
IPR011009 Kinase-like_dom_sf
IPR000719 Prot_kinase_dom
IPR017441 Protein_kinase_ATP_BS
IPR001660 SAM
IPR013761 SAM/pointed_sf
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
IPR011641 Tyr-kin_ephrin_A/B_rcpt-like
IPR008266 Tyr_kinase_AS
IPR020635 Tyr_kinase_cat_dom
IPR016257 Tyr_kinase_ephrin_rcpt
IPR001426 Tyr_kinase_rcpt_V_CS

PROSITE

PROSITE ID PROSITE Term
PS51550 EPH_LBD
PS50853 FN3
PS00107 PROTEIN_KINASE_ATP
PS50011 PROTEIN_KINASE_DOM
PS00109 PROTEIN_KINASE_TYR
PS00790 RECEPTOR_TYR_KIN_V_1
PS00791 RECEPTOR_TYR_KIN_V_2
PS50105 SAM_DOMAIN

Pfam

Pfam ID Pfam Term
PF14575 EphA2_TM
PF01404 Ephrin_lbd
PF07699 Ephrin_rec_like
PF00041 fn3
PF07714 Pkinase_Tyr
PF00536 SAM_1

Protein-protein interaction

Protein-miRNA interaction