Human Gene EPHB2 (ENST00000374630.8_7) from GENCODE V47lift37
  Description: EPH receptor B2, transcript variant 1 (from RefSeq NM_017449.5)
Gencode Transcript: ENST00000374630.8_7
Gencode Gene: ENSG00000133216.17_12
Transcript (Including UTRs)
   Position: hg19 chr1:23,037,332-23,247,993 Size: 210,662 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg19 chr1:23,037,476-23,240,063 Size: 202,588 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:23,037,332-23,247,993)mRNA (may differ from genome)Protein (986 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EPHB2_HUMAN
DESCRIPTION: RecName: Full=Ephrin type-B receptor 2; EC=2.7.10.1; AltName: Full=Developmentally-regulated Eph-related tyrosine kinase; AltName: Full=ELK-related tyrosine kinase; AltName: Full=EPH tyrosine kinase 3; AltName: Full=EPH-like kinase 5; Short=EK5; Short=hEK5; AltName: Full=Renal carcinoma antigen NY-REN-47; AltName: Full=Tyrosine-protein kinase TYRO5; AltName: Full=Tyrosine-protein kinase receptor EPH-3; Flags: Precursor;
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 lobs 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. Beside 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.
CATALYTIC ACTIVITY: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
SUBUNIT: 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.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell projection, axon (By similarity). Cell projection, dendrite (By similarity).
TISSUE SPECIFICITY: Brain, heart, lung, kidney, placenta, pancreas, liver and skeletal muscle. Preferentially expressed in fetal brain.
DISEASE: Defects in EPHB2 may be a cause of susceptibility to prostate cancer (PC) [MIM:176807]. It is 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. Note=EPHB2 mutations have been found in a prostate cancer cell line derived from a brain metastasis.
SIMILARITY: Belongs to the protein kinase superfamily. Tyr protein kinase family. Ephrin receptor subfamily.
SIMILARITY: Contains 1 Eph LBD (Eph ligand-binding) domain.
SIMILARITY: Contains 2 fibronectin type-III domains.
SIMILARITY: Contains 1 protein kinase domain.
SIMILARITY: Contains 1 SAM (sterile alpha motif) domain.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

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Click here to open Exonprimer with this transcript

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-  MalaCards Disease Associations
  MalaCards Gene Search: EPHB2
Diseases sorted by gene-association score: prostate cancer/brain cancer susceptibility, somatic* (975), prostate cancer* (97), sclerosing liposarcoma (15), doxorubicin induced cardiomyopathy (8), transitional cell carcinoma (7), pleomorphic lipoma (7), colorectal cancer (2), neuroblastoma (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.68 RPKM in Colon - Transverse
Total median expression: 74.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -90.40144-0.628 Picture PostScript Text
3' UTR -3004.707930-0.379 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001090 - Ephrin_rcpt_lig-bd_dom
IPR003961 - Fibronectin_type3
IPR008979 - Galactose-bd-like
IPR009030 - Growth_fac_rcpt
IPR013783 - Ig-like_fold
IPR011009 - Kinase-like_dom
IPR000719 - Prot_kinase_cat_dom
IPR017441 - Protein_kinase_ATP_BS
IPR001660 - SAM
IPR013761 - SAM/pointed
IPR021129 - SAM_type1
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

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00069 - Protein kinase domain
PF00536 - SAM domain (Sterile alpha motif)
PF01404 - Ephrin receptor ligand binding domain
PF07647 - SAM domain (Sterile alpha motif)
PF07699 - Tyrosine-protein kinase ephrin type A/B receptor-like
PF07714 - Protein tyrosine and serine/threonine kinase
PF14575 - Ephrin type-A receptor 2 transmembrane domain

SCOP Domains:
47769 - SAM/Pointed domain
49363 - Purple acid phosphatase, N-terminal domain
49265 - Fibronectin type III
49785 - Galactose-binding domain-like
56112 - Protein kinase-like (PK-like)
57184 - Growth factor receptor domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1B4F - X-ray MuPIT 1F0M - X-ray 2QBX - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P29323
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0001540 beta-amyloid binding
GO:0004672 protein kinase activity
GO:0004713 protein tyrosine kinase activity
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005003 ephrin receptor activity
GO:0005005 transmembrane-ephrin receptor activity
GO:0005102 receptor binding
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008046 axon guidance receptor activity
GO:0016301 kinase activity
GO:0016740 transferase activity
GO:0038023 signaling receptor activity
GO:0042802 identical protein binding
GO:0044877 macromolecular complex binding

Biological Process:
GO:0000902 cell morphogenesis
GO:0001525 angiogenesis
GO:0001655 urogenital system development
GO:0001933 negative regulation of protein phosphorylation
GO:0006468 protein phosphorylation
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007275 multicellular organism development
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0007413 axonal fasciculation
GO:0007611 learning or memory
GO:0007612 learning
GO:0009887 animal organ morphogenesis
GO:0010628 positive regulation of gene expression
GO:0016310 phosphorylation
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0021631 optic nerve morphogenesis
GO:0021952 central nervous system projection neuron axonogenesis
GO:0022038 corpus callosum development
GO:0031290 retinal ganglion cell axon guidance
GO:0031915 positive regulation of synaptic plasticity
GO:0042472 inner ear morphogenesis
GO:0046580 negative regulation of Ras protein signal transduction
GO:0048013 ephrin receptor signaling pathway
GO:0048168 regulation of neuronal synaptic plasticity
GO:0048170 positive regulation of long-term neuronal synaptic plasticity
GO:0048593 camera-type eye morphogenesis
GO:0050770 regulation of axonogenesis
GO:0050771 negative regulation of axonogenesis
GO:0050878 regulation of body fluid levels
GO:0051389 inactivation of MAPKK activity
GO:0051965 positive regulation of synapse assembly
GO:0060021 palate development
GO:0060996 dendritic spine development
GO:0060997 dendritic spine morphogenesis
GO:0070373 negative regulation of ERK1 and ERK2 cascade
GO:0071679 commissural neuron axon guidance
GO:0099557 trans-synaptic signaling by trans-synaptic complex, modulating synaptic transmission
GO:1900273 positive regulation of long-term synaptic potentiation
GO:1903078 positive regulation of protein localization to plasma membrane
GO:1904782 negative regulation of NMDA glutamate receptor activity
GO:1904783 positive regulation of NMDA glutamate receptor activity

Cellular Component:
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0042995 cell projection
GO:0043025 neuronal cell body
GO:0098794 postsynapse


-  Descriptions from all associated GenBank mRNAs
  BC067861 - Homo sapiens EPH receptor B2, mRNA (cDNA clone IMAGE:30344215), complete cds.
AK299701 - Homo sapiens cDNA FLJ60851 complete cds, highly similar to Ephrin type-B receptor 2 precursor (EC 2.7.10.1).
AB210018 - Homo sapiens mRNA for EPHB2 variant protein, clone: fj16004.
AF025304 - Homo sapiens protein-tyrosine kinase EPHB2v (EPHB2) mRNA, complete cds.
L41939 - Homo sapiens protein-tyrosine kinase precursor (DRT) mRNA, complete cds.
AB384401 - Synthetic construct DNA, clone: pF1KSDB1480, Homo sapiens EPHB2 gene for ephrin type-B receptor 2 precursor, complete cds, without stop codon, in Flexi system.
BC146296 - Synthetic construct Homo sapiens clone IMAGE:100015183, MGC:180239 EPH receptor B2 (EPHB2) mRNA, encodes complete protein.
CU686595 - Synthetic construct Homo sapiens gateway clone IMAGE:100022956 5' read EPHB2 mRNA.
KJ901410 - Synthetic construct Homo sapiens clone ccsbBroadEn_10804 EPHB2 gene, encodes complete protein.
L36643 - Homo sapiens receptor protein-tyrosine kinase (HEK5) mRNA, 3' end.
D31661 - Homo sapiens ERK mRNA for tyrosine kinase, complete cds.
BC007903 - Homo sapiens EPH receptor B2, mRNA (cDNA clone IMAGE:4138660).
BC018763 - Homo sapiens EPH receptor B2, mRNA (cDNA clone IMAGE:3501578).
BC041017 - Homo sapiens EPH receptor B2, mRNA (cDNA clone IMAGE:3343843), with apparent retained intron.
AK298898 - Homo sapiens cDNA FLJ60805 complete cds, highly similar to Ephrin type-B receptor 2 precursor (EC 2.7.10.1).
JD187082 - Sequence 168106 from Patent EP1572962.
DL491267 - Novel nucleic acids.
HM437237 - Homo sapiens ephrin type-B receptor 2 variant (EPHB2) mRNA, partial cds.
D37827 - Homo sapiens mRNA for large erk/cek5 tyrosine kinase, partial cds.
D14717 - Homo sapiens mRNA for large erk kinase, partial cds.
E09453 - cDNA encoding human Cek5 receptor-type tyrosine kinase.
JD319092 - Sequence 300116 from Patent EP1572962.
JD357690 - Sequence 338714 from Patent EP1572962.
JD152174 - Sequence 133198 from Patent EP1572962.
JD133403 - Sequence 114427 from Patent EP1572962.
JD381585 - Sequence 362609 from Patent EP1572962.
JD284140 - Sequence 265164 from Patent EP1572962.
JD178803 - Sequence 159827 from Patent EP1572962.
JD082152 - Sequence 63176 from Patent EP1572962.
JD325032 - Sequence 306056 from Patent EP1572962.
JD152690 - Sequence 133714 from Patent EP1572962.
JD301554 - Sequence 282578 from Patent EP1572962.
JD301555 - Sequence 282579 from Patent EP1572962.
JD189457 - Sequence 170481 from Patent EP1572962.
JD458405 - Sequence 439429 from Patent EP1572962.
JD380761 - Sequence 361785 from Patent EP1572962.
JD526899 - Sequence 507923 from Patent EP1572962.
JD263507 - Sequence 244531 from Patent EP1572962.
JD025738 - Sequence 6762 from Patent EP1572962.
JD373870 - Sequence 354894 from Patent EP1572962.
JD194198 - Sequence 175222 from Patent EP1572962.
JD398978 - Sequence 380002 from Patent EP1572962.
JD230321 - Sequence 211345 from Patent EP1572962.
JD270352 - Sequence 251376 from Patent EP1572962.
JD413032 - Sequence 394056 from Patent EP1572962.
JD216441 - Sequence 197465 from Patent EP1572962.
JD456034 - Sequence 437058 from Patent EP1572962.
JD080884 - Sequence 61908 from Patent EP1572962.
JD372833 - Sequence 353857 from Patent EP1572962.
JD532910 - Sequence 513934 from Patent EP1572962.
JD471226 - Sequence 452250 from Patent EP1572962.
JD252179 - Sequence 233203 from Patent EP1572962.
JD190539 - Sequence 171563 from Patent EP1572962.
JD555043 - Sequence 536067 from Patent EP1572962.
JD125230 - Sequence 106254 from Patent EP1572962.
JD220307 - Sequence 201331 from Patent EP1572962.
JD408295 - Sequence 389319 from Patent EP1572962.
JD432298 - Sequence 413322 from Patent EP1572962.
JD192327 - Sequence 173351 from Patent EP1572962.
JD316817 - Sequence 297841 from Patent EP1572962.
JD468079 - Sequence 449103 from Patent EP1572962.
AK095664 - Homo sapiens cDNA FLJ38345 fis, clone FCBBF3028671.
AK125423 - Homo sapiens cDNA FLJ43434 fis, clone OCBBF2028055.
AK025975 - Homo sapiens cDNA: FLJ22322 fis, clone HRC05532.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P29323 (Reactome details) participates in the following event(s):

R-HSA-443817 Phosphorylation of L1 by EPHB2
R-HSA-3928624 EPHBs bind EFNBs
R-HSA-3928615 EFNBs bind SFKs
R-HSA-4093329 EFNBs bind SDCBP
R-HSA-3928580 SFKs phosphorylate EFNBs
R-HSA-3928597 EPH:EFN dimers tetramerise
R-HSA-3928639 p-EFNB binds GRB4
R-HSA-3928594 SFKs phosphorylate GIT1
R-HSA-3928614 EFNB:GRB4 binds GIT1
R-HSA-3928631 GIT1 binds bPIX
R-HSA-3928633 bPIX exchanges GTP for GDP on RAC, activating it
R-HSA-3928641 PAK binds RAC and bPIX
R-HSA-3928625 PAKs autophosphorylate
R-HSA-3928640 PAKs phosphorylate MLC
R-HSA-373760 L1CAM interactions
R-HSA-2682334 EPH-Ephrin signaling
R-HSA-422475 Axon guidance
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-3928664 Ephrin signaling
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: DRT, ENST00000374630.1, ENST00000374630.2, ENST00000374630.3, ENST00000374630.4, ENST00000374630.5, ENST00000374630.6, ENST00000374630.7, EPHB2_HUMAN, EPHT3, EPTH3, ERK, HEK5, NM_017449, O43477, P29323, Q5T0U6, Q5T0U7, Q5T0U8, TYRO5, uc318lsh.1, uc318lsh.2
UCSC ID: ENST00000374630.8_7
RefSeq Accession: NM_017449.5
Protein: P29323 (aka EPHB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.