EPHB4
entrez
2050
canonical
uniprot
P54760
canonical
ensembl
ENSG00000196411
resolver
ensp
ENSP00000350896
resolver
ensp
ENSP00000353833
resolver
ensp
ENSP00000526950
resolver
enst
ENST00000360620
resolver
genesymbol
EPHB4
resolver
genesymbol_syn
HTK
resolver
genesymbol_syn
MYK1
resolver
genesymbol_syn
TYRO11
resolver
hgnc
HGNC:3395
resolver
uniprot
B5A970
resolver
uniprot
B5A971
resolver
uniprot
B5A972
resolver
uniprot
F6RDZ0
resolver
uniprot
Q7Z635
resolver
uniprot
Q96L35
resolver
uniprot
Q9BTA5
resolver
uniprot
Q9BXP0
resolver
uniprot_entry
EPHB4_HUMAN
resolver
uniprot_entry
F6RDZ0_HUMAN
resolver
uniprot_entry
Q96L35_HUMAN
resolver
uniprot_sec
B5A970
resolver
uniprot_sec
B5A971
resolver
uniprot_sec
B5A972
resolver
uniprot_sec
Q7Z635
resolver
uniprot_sec
Q9BTA5
resolver
uniprot_sec
Q9BXP0
resolver
amino_acid_sequence
MELRVLLCWASLAAALEETLLNTKLETADLKWVTFPQVDGQWEELSGLDEEQHSVRTYEVCDVQRAPGQAHWLRTGWVPRRGAVHVYATLRFTMLECLSLPRAGRSCKETFTVFYYESDADTATALTPAWMENPYIKVDTVAAEHLTRKRPGAEATGKVNVKTLRLGPLSKAGFYLAFQDQGACMALLSLHLFYKKCAQLTVNLTRFPETVPRELVVPVAGSCVVDAVPAPGPSPSLYCREDGQWAEQPVTGCSCAPGFEAAEGNTKCRACAQGTFKPLSGEGSCQPCPANSHSNTIGSAVCQCRVGYFRARTDPRGAPCTTPPSAPRSVVSRLNGSSLHLEWSAPLESGGREDLTYALRCRECRPGGSCAPCGGDLTFDPGPRDLVEPWVVVRGLRPDFTYTFEVTALNGVSSLATGPVPFEPVNVTTDREVPPAVSDIRVTRSSPSSLSLAWAVPRAPSGAVLDYEVKYHEKGAEGPSSVRFLKTSENRAELRGLKRGASYLVQVRARSEAGYGPFGQEHHSQTQLDESEGWREQLALIAGTAVVGVVLVLVVIVVAVLCLRKQSNGREAEYSDKHGQYLIGHGTKVYIDPFTYEDPNEAVREFAKEIDVSYVKIEEVIGAGEFGEVCRGRLKAPGKKESCVAIKTLKGGYTERQRREFLSEASIMGQFEHPNIIRLEGVVTNSMPVMILTEFMENGALDSFLRLNDGQFTVIQLVGMLRGIASGMRYLAEMSYVHRDLAARNILVNSNLVCKVSDFGLSRFLEENSSDPTYTSSLGGKIPIRWTAPEAIAFRKFTSASDAWSYGIVMWEVMSFGERPYWDMSNQDVINAIEQDYRLPPPPDCPTSLHQLMLDCWQKDRNARPRFPQVVSALDKMIRNPASLKIVARENGGASHPLLDQRQPHYSAFGSVGEWLRAIKMGRYEESFAAAGFGSFELVSQISAEDLLRIGVTLAGHQKKILASVQHMKSQAKPGTPGGTGGPAPQY
uniprot
proteins
disease_involvement
DISEASE: Lymphatic malformation 7 (LMPHM7) [MIM:617300]: 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. {ECO:0000269|PubMed:27400125}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Capillary malformation-arteriovenous malformation 2 (CMAVM2) [MIM:618196]: 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. {ECO:0000269|PubMed:28687708, ECO:0000269|PubMed:28730721, ECO:0000269|PubMed:29444212, ECO:0000269|PubMed:30578106}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.7.10.1
uniprot
proteins
function
FUNCTION: Receptor tyrosine kinase which binds promiscuously to 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. Together with its cognate ligand/functional ligand EFNB2, it is involved in the regulation of cell adhesion and migration, and plays a central role in heart morphogenesis, angiogenesis and blood vessel remodeling and permeability. EPHB4-mediated forward signaling controls cellular repulsion and segregation from EFNB2-expressing cells. Phosphorylates inactive tyrosine-protein kinase EPHB6 which promotes interaction of EPHB6 with SH2 domains, allowing it to recruit SH2 domain-containing signaling adapters (PubMed:34431498). {ECO:0000269|PubMed:12734395, ECO:0000269|PubMed:16424904, ECO:0000269|PubMed:27400125, ECO:0000269|PubMed:30578106, ECO:0000269|PubMed:34431498}.
uniprot
proteins
mass_dalton
108270
uniprot
proteins
mutagenesis
MUTAGEN 95; /note="L->R: Reduces binding affinity for EFNB2."; /evidence="ECO:0000269|PubMed:16867992"; MUTAGEN 590; /note="Y->F: Retains catalytic activity but displays reduced kinase activity with EPHB6 as substrate; when associated with F-596."; /evidence="ECO:0000269|PubMed:34431498"; MUTAGEN 596; /note="Y->F: Retains catalytic activity but displays reduced kinase activity with EPHB6 as substrate; when associated with F-590."; /evidence="ECO:0000269|PubMed:34431498
uniprot
proteins
post_translational_modification
PTM: Phosphorylated; autophosphorylation is stimulated by EFNB2.
uniprot
proteins
protein_family
Ephrin receptor subfamily
uniprot
proteins
protein_family
Protein kinase superfamily
uniprot
proteins
protein_family
Tyr protein kinase family
uniprot
proteins
pubmed
11239002
uniprot
proteins
pubmed
12734395
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16424904
uniprot
proteins
pubmed
16472751
uniprot
proteins
pubmed
16867992
uniprot
proteins
pubmed
17344846
uniprot
proteins
pubmed
18593464
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
18691976
uniprot
proteins
pubmed
19369195
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27400125
uniprot
proteins
pubmed
28687708
uniprot
proteins
pubmed
28730721
uniprot
proteins
pubmed
29444212
uniprot
proteins
pubmed
30578106
uniprot
proteins
pubmed
34431498
uniprot
proteins
pubmed
8188704
uniprot
proteins
pubmed
9267020
uniprot
proteins
sequence_length
987
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:28687708, ECO:0000269|PubMed:8188704}; Single-pass type I membrane protein {ECO:0000269|PubMed:8188704}.
uniprot
proteins
transmembrane_region
TRANSMEM 540..560; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins