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EPHB4 EPH receptor B4 [ Homo sapiens (human) ]

Gene ID: 2050, updated on 12-Aug-2018
Official Symbol
EPHB4provided by HGNC
Official Full Name
EPH receptor B4provided by HGNC
Primary source
HGNC:HGNC:3395
See related
Ensembl:ENSG00000196411 MIM:600011; Vega:OTTHUMG00000157040
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HTK; MYK1; HFASD; TYRO11
Summary
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 2 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. The protein encoded by this gene binds to ephrin-B2 and plays an essential role in vascular development. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in placenta (RPKM 28.2), endometrium (RPKM 22.9) and 24 other tissues See more
Orthologs
See EPHB4 in Genome Data Viewer
Location:
7q22.1
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (100802565..100827521, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (100400187..100425143, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene erythropoietin Neighboring gene zonadhesin (gene/pseudogene) Neighboring gene RNA, 7SL, cytoplasmic 750, pseudogene Neighboring gene solute carrier family 12 member 9 Neighboring gene SLC12A9 antisense RNA 1 Neighboring gene uncharacterized LOC107986830 Neighboring gene microRNA 6875 Neighboring gene thyroid hormone receptor interactor 6

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to
MedGen: C4310629 OMIM: 617300 GeneReviews: Not available
not available

NHGRI GWAS Catalog

Description
Genome-wide association study for circulating levels of PAI-1 provides novel insights into its regulation.
NHGRI GWA Catalog
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • EPH-Ephrin signaling, organism-specific biosystem (from REACTOME)
    EPH-Ephrin signaling, organism-specific biosystemDuring the development process cell migration and adhesion are the main forces involved in morphing the cells into critical anatomical structures. The ability of a cell to migrate to its correct dest...
  • EPH-ephrin mediated repulsion of cells, organism-specific biosystem (from REACTOME)
    EPH-ephrin mediated repulsion of cells, organism-specific biosystemDespite high-affinity multimeric interaction between EPHs and ephrins (EFNs), the cellular response to EPH-EFN engagement is usually repulsion between the two cells and signal termination. These repu...
  • EPHB forward signaling, organism-specific biosystem (from Pathway Interaction Database)
    EPHB forward signaling, organism-specific biosystem
    EPHB forward signaling
  • EPHB-mediated forward signaling, organism-specific biosystem (from REACTOME)
    EPHB-mediated forward signaling, organism-specific biosystemMultiple EPHB receptors contribute directly to dendritic spine development and morphogenesis. These are more broadly involved in post-synaptic development through activation of focal adhesion kinase ...
  • Ephrin B reverse signaling, organism-specific biosystem (from Pathway Interaction Database)
    Ephrin B reverse signaling, organism-specific biosystem
    Ephrin B reverse signaling
  • Ephrin signaling, organism-specific biosystem (from REACTOME)
    Ephrin signaling, organism-specific biosystemThe interaction between ephrin (EFN) ligands and EPH receptors results not only in forward signaling through the EPH receptor, but also in 'reverse' signaling through the EFN ligand itself. Reverse s...
  • EphrinB-EPHB pathway, organism-specific biosystem (from Pathway Interaction Database)
    EphrinB-EPHB pathway, organism-specific biosystem
    EphrinB-EPHB pathway
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ephrin receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein tyrosine kinase activity EXP
Inferred from Experiment
more info
PubMed 
protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane receptor protein tyrosine kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
transmembrane signaling receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane-ephrin receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell adhesion IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration involved in sprouting angiogenesis IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
ephrin receptor signaling pathway TAS
Traceable Author Statement
more info
 
heart morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
peptidyl-tyrosine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ERK1 and ERK2 cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of MAPK cascade IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein autophosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
extracellular exosome HDA PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
receptor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Preferred Names
ephrin type-B receptor 4
Names
ephrin receptor EphB4
hepatoma transmembrane kinase
soluble EPHB4 variant 1
soluble EPHB4 variant 2
soluble EPHB4 variant 3
tyrosine-protein kinase TYRO11
tyrosine-protein kinase receptor HTK
NP_004435.3
XP_016867305.1

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052671.1 RefSeqGene

    Range
    5001..29957
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004444.4NP_004435.3  ephrin type-B receptor 4 precursor

    See identical proteins and their annotated locations for NP_004435.3

    Status: REVIEWED

    Source sequence(s)
    AY056048, BC052804, CB962032
    Consensus CDS
    CCDS5706.1
    UniProtKB/Swiss-Prot
    P54760
    UniProtKB/TrEMBL
    Q541P7, Q96L35
    Related
    ENSP00000350896.3, OTTHUMP00000211367, ENST00000358173.7, OTTHUMT00000347222
    Conserved Domains (5) summary
    cd05065
    Location:610878
    PTKc_EphR_B; Catalytic domain of the Protein Tyrosine Kinases, Class EphB Ephrin Receptors
    cd09554
    Location:907973
    SAM_EPH-B4; SAM domain of EPH-B4 subfamily of tyrosine kinase receptors
    cd10474
    Location:17196
    EphR_LBD_B4; Ligand Binding Domain of Ephrin type-B Receptor 4
    cd00063
    Location:434526
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam14575
    Location:564610
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    100802565..100827521 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011816.1XP_016867305.1  ephrin type-B receptor 4 isoform X1

    Conserved Domains (7) summary
    cd05065
    Location:628896
    PTKc_EphR_B; Catalytic domain of the Protein Tyrosine Kinases, Class EphB Ephrin Receptors
    cd09554
    Location:925991
    SAM_EPH-B4; SAM domain of EPH-B4 subfamily of tyrosine kinase receptors
    smart00454
    Location:922989
    SAM; Sterile alpha motif
    cd10474
    Location:17196
    EphR_LBD_B4; Ligand Binding Domain of Ephrin type-B Receptor 4
    cd00063
    Location:452544
    FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
    pfam07714
    Location:633892
    Pkinase_Tyr; Protein tyrosine kinase
    pfam14575
    Location:582628
    EphA2_TM; Ephrin type-A receptor 2 transmembrane domain
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