Entity Details

Primary name EPHB4
Entity type gene
Source Source Link

Details

PrimaryID2050
RefseqGeneNG_052671
SymbolEPHB4
NameEPH receptor B4
Chromosome7
Location7q22.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-08-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsEPHB4_HUMAN

GO terms

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GOName
GO:0001525 angiogenesis
GO:0002042 cell migration involved in sprouting angiogenesis
GO:0003007 heart morphogenesis
GO:0004714 transmembrane receptor protein tyrosine kinase activity
GO:0005003 ephrin receptor activity
GO:0005005 transmembrane-ephrin receptor activity
GO:0005524 ATP binding
GO:0005576 extracellular region
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0007155 cell adhesion
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007275 multicellular organism development
GO:0007411 axon guidance
GO:0033674 positive regulation of kinase activity
GO:0043005 neuron projection
GO:0043235 receptor complex
GO:0046777 protein autophosphorylation
GO:0048013 ephrin receptor signaling pathway
GO:0070062 extracellular exosome

Diseases

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Disease IDSourceNameDescription
618196 OMIMCapillary malformation-arteriovenous malformation 2 (CMAVM2)An autosomal dominant disorder characterized by multiple, round to oval or more irregularly shaped macules that are pinkish red in color and are randomly distributed across the body. These capillary malformations are associated with either arteriovenous malformation, arteriovenous fistula, or Parkes Weber syndrome. The disease is caused by variants affecting the gene represented in this entry.
617300 OMIMLymphatic malformation 7 (LMPHM7)A form of primary lymphedema, a disease characterized by swelling of body parts due to developmental anomalies and functional defects of the lymphatic system. Patients with lymphedema may suffer from recurrent local infections. LMPHM7 is an autosomal dominant form with variable expressivity. Some individuals present with severe non-immune hydrops fetalis, which may cause perinatal demise or fully resolve after the neonatal period. Others present with no edema and have milder clinical features, such as atrial septal defect or varicose veins as adults. The disease is caused by variants affecting the gene represented in this entry.

Interactions

46 interactions

InteractorPartnerSourcesPublicationsLink
EPHB4EFNB2BioGRID, HPRD, IntAct12051776 26186194 26481148 28514442 9718367 details
EPHB4EPOIntAct26481148 details
EPHB4APPBioGRID21832049 details
EPHB4FBXO7BioGRID27503909 details
EPHB4JUNIntAct20195357 details
EPHB4EPHB6BioGRID20086179 details
EPHB4SDC3HPRD9388509 details
EPHB4GRIN1HPRD11136979 details
EPHB4EGFRIntAct15657067 details
EPHB4PKMIntAct24606918 details
EPHB4PARD6ABioGRID, IntAct26496610 details
EPHB4ZSCAN5ABioGRID, IntAct26496610 details
EPHB4TMEM17BioGRID, IntAct26638075 details
EPHB4MMEBioGRID, IntAct28514442 details
EPHB4PCDHAC2BioGRID, IntAct28514442 details
EPHB4KLRG2BioGRID, IntAct28514442 details
EPHB4SCGB2A2BioGRID, IntAct28514442 details
EPHB4MANSC1BioGRID, IntAct28514442 details
EPHB4PCDHA12BioGRID, IntAct28514442 details
EPHB4GABREBioGRID, IntAct26186194 28514442 details
EPHB4HLA-EBioGRID, IntAct26186194 28514442 details
EPHB4TMPRSS3BioGRID, IntAct28514442 details
EPHB4MRAP2BioGRID, IntAct28514442 details
EPHB4ST8SIA4BioGRID, IntAct28514442 details
EPHB4IL17RCBioGRID, IntAct28514442 details
EPHB4ADPGKBioGRID, IntAct28514442 details
EPHB4PCDHGA5BioGRID, IntAct28514442 details
EPHB4LRRIQ1BioGRID, IntAct28514442 details
EPHB4TCTN2BioGRID, IntAct28514442 details
EPHB4P2RX2BioGRID, IntAct28514442 details
EPHB4NRROSBioGRID, IntAct28514442 details
EPHB4HLA-DRABioGRID, IntAct26186194 28514442 details
EPHB4TANKBioGRID, IntAct30561431 details
EPHB4H1-2BioGRID, IntAct30021884 details
EPHB4CD81IntAct32900848 details
EPHB4LMBR1LBioGRID31073040 details
EPHB4DNAJC5BioGRID33957083 details
EPHB4ARF6BioGRID34079125 details
EPHB4C11orf52BioGRID34079125 details
EPHB4CAV1BioGRID34079125 details
EPHB4KRASBioGRID34079125 details
EPHB4RAB2ABioGRID34079125 details
EPHB4RAB35BioGRID34079125 details
EPHB4RHOBBioGRID34079125 details
EPHB4ELAVL1BioGRID19322201 details
EPHB4APEX1BioGRID28986522 details