Human Gene EPHB3 (ENST00000330394.3) from GENCODE V44
  Description: Homo sapiens EPH receptor B3 (EPHB3), mRNA. (from RefSeq NM_004443)
RefSeq Summary (NM_004443): Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into two groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010].
Gencode Transcript: ENST00000330394.3
Gencode Gene: ENSG00000182580.3
Transcript (Including UTRs)
   Position: hg38 chr3:184,561,785-184,582,408 Size: 20,624 Total Exon Count: 16 Strand: +
Coding Region
   Position: hg38 chr3:184,562,236-184,581,622 Size: 19,387 Coding Exon Count: 16 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:184,561,785-184,582,408)mRNA (may differ from genome)Protein (998 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EPHB3_HUMAN
DESCRIPTION: RecName: Full=Ephrin type-B receptor 3; EC=2.7.10.1; AltName: Full=EPH-like tyrosine kinase 2; Short=EPH-like kinase 2; AltName: Full=Embryonic kinase 2; Short=EK2; Short=hEK2; AltName: Full=Tyrosine-protein kinase TYRO6; 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. Generally has an overlapping and redundant function with EPHB2. Like EPHB2, functions in axon guidance during development regulating for instance the neurons forming the corpus callosum and the anterior commissure, 2 major interhemispheric connections between the temporal lobs of the cerebral cortex. Beside its role in axon guidance plays also an important redundant role with other ephrin-B receptors in development and maturation of dendritic spines and the formation of excitatory synapses. Controls other aspects of development through regulation of cell migration and positioning. This includes angiogenesis, palate development and thymic epithelium development for instance. Forward and reverse signaling through the EFNB2/EPHB3 complex also regulate migration and adhesion of cells that tubularize the urethra and septate the cloaca. Finally, plays an important role in intestinal epithelium differentiation segregating progenitor from differentiated cells in the crypt.
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).
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. Cell projection, dendrite (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
PTM: Phosphorylated. Autophosphorylates upon ligand-binding. Autophosphorylation on Tyr-614 is required for interaction with SH2 domain-containing proteins.
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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-  MalaCards Disease Associations
  MalaCards Gene Search: EPHB3
Diseases sorted by gene-association score: spinal cord ependymoma (1)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 39.26 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 282.68 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 -185.90451-0.412 Picture PostScript Text
3' UTR -360.40786-0.459 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
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:
PF01404 - Ephrin receptor ligand binding domain
PF00041 - Fibronectin type III domain
PF07699 - Putative ephrin-receptor like
PF07714 - Protein tyrosine kinase
PF00536 - SAM domain (Sterile alpha motif)

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3P1I - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P54753
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide 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:0005524 ATP binding
GO:0008046 axon guidance receptor activity
GO:0016301 kinase activity
GO:0016740 transferase activity

Biological Process:
GO:0001525 angiogenesis
GO:0001655 urogenital system development
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:0016310 phosphorylation
GO:0016477 cell migration
GO:0018108 peptidyl-tyrosine phosphorylation
GO:0021952 central nervous system projection neuron axonogenesis
GO:0022038 corpus callosum development
GO:0022407 regulation of cell-cell adhesion
GO:0031290 retinal ganglion cell axon guidance
GO:0034446 substrate adhesion-dependent cell spreading
GO:0043087 regulation of GTPase activity
GO:0046777 protein autophosphorylation
GO:0048013 ephrin receptor signaling pathway
GO:0048538 thymus development
GO:0048546 digestive tract morphogenesis
GO:0050770 regulation of axonogenesis
GO:0051965 positive regulation of synapse assembly
GO:0060021 palate development
GO:0060996 dendritic spine development
GO:0060997 dendritic spine morphogenesis

Cellular Component:
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030425 dendrite
GO:0042995 cell projection


-  Descriptions from all associated GenBank mRNAs
  BC052968 - Homo sapiens EPH receptor B3, mRNA (cDNA clone MGC:54077 IMAGE:6472607), complete cds.
X75208 - H.sapiens HEK2 mRNA for protein tyrosine kinase receptor.
AB385181 - Synthetic construct DNA, clone: pF1KB7020, Homo sapiens EPHB3 gene for ephrin type-B receptor 3 precursor, complete cds, without stop codon, in Flexi system.
KJ891114 - Synthetic construct Homo sapiens clone ccsbBroadEn_00508 EPHB3 gene, encodes complete protein.
JD056231 - Sequence 37255 from Patent EP1572962.
JD020169 - Sequence 1193 from Patent EP1572962.
JD033270 - Sequence 14294 from Patent EP1572962.
JD300871 - Sequence 281895 from Patent EP1572962.
JD354342 - Sequence 335366 from Patent EP1572962.
JD497268 - Sequence 478292 from Patent EP1572962.
JD361625 - Sequence 342649 from Patent EP1572962.
JD072110 - Sequence 53134 from Patent EP1572962.
JD537939 - Sequence 518963 from Patent EP1572962.
JD173204 - Sequence 154228 from Patent EP1572962.
JD418311 - Sequence 399335 from Patent EP1572962.
JD548516 - Sequence 529540 from Patent EP1572962.
JD550060 - Sequence 531084 from Patent EP1572962.
JD158222 - Sequence 139246 from Patent EP1572962.
JD468292 - Sequence 449316 from Patent EP1572962.
JD324827 - Sequence 305851 from Patent EP1572962.
JD372621 - Sequence 353645 from Patent EP1572962.
JD098606 - Sequence 79630 from Patent EP1572962.
JD485086 - Sequence 466110 from Patent EP1572962.
JD302383 - Sequence 283407 from Patent EP1572962.
JD441897 - Sequence 422921 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04360 - Axon guidance

Reactome (by CSHL, EBI, and GO)

Protein P54753 (Reactome details) participates in the following event(s):

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-2682334 EPH-Ephrin signaling
R-HSA-3928665 EPH-ephrin mediated repulsion of cells
R-HSA-3928664 Ephrin signaling
R-HSA-422475 Axon guidance
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000330394.1, ENST00000330394.2, EPHB3_HUMAN, ETK2, HEK2, NM_004443, P54753, Q7Z740, TYRO6, uc003foz.1, uc003foz.2, uc003foz.3, uc003foz.4, uc003foz.5
UCSC ID: ENST00000330394.3
RefSeq Accession: NM_004443
Protein: P54753 (aka EPHB3_HUMAN)
CCDS: CCDS3268.1

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