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FLASH GENE
Symbol EFNB2 contributors: mct/pg/shn - updated : 11-01-2012
HGNC name ephrin-B2
HGNC id 3227
Location 13q33.3      Physical location : 107.142.097 - 107.187.337
Synonym name
  • HTK ligand
  • eph-related receptor tyrosine kinase ligand 5
  • ligand of eph-related kinase 5
    • Synonym symbol(s) EPLG5, LERK5, HTKL, MGC126226, MGC126227, MGC126228, Htk-L
    DNA
    TYPE functioning gene
    STRUCTURE 45.25 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D13S278 - D13S286 - EFNB2 - D13S1258 - D13S173- qter
    Physical map
    TPP2 13q32-q33 tripeptidyl peptidase II LOC196541 13q33.1 similar to RIKEN cDNA 2310038H17 FLJ40176 13q33.1 hypothetical protein FLJ40176 LOC93081 13q33.1 hypothetical protein BC015148 KDELC1 13q33 KDEL (Lys-Asp-Glu-Leu) containing 1 BIVM 13q32-q33.1 basic, immunoglobulin-like variable motif containing ERCC5 13q22 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) LOC121952 13q33.1 hypothetical protein LOC121952 SLC10A2 13q33 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 G30 13q33.2 solute carrier family 10 (sodium/bile acid cotransporter family), member 2 DAOA LOC144920 13q33.2 hypothetical protein LOC144920 LOC341604 13q33.2 similar to 60S ribosomal protein L35 EFNB2 13q33 ephrin-B2 FLJ10154 13q33.2 hypothetical protein FLJ10154 LOC390424 13 similar to ATP synthase lipid-binding protein, mitochondrial precursor (ATP synthase proteolipid P1) (ATPase protein 9) (ATPase subunit C) LOC122335 13q33.3 similar to peptidylprolyl isomerase A (cyclophilin A) LOC387944 13 similar to expressed sequence AW121567 LOC387945 13 similar to expressed sequence AW121567 LIG4 13q33-q34 ligase IV, DNA, ATP-dependent FLJ14906 13q33.3 hypothetical protein FLJ14906 TNFSF13B 13q32-q34 tumor necrosis factor (ligand) superfamily, member 13b MYR8 13q33.3 myosin heavy chain Myr 8 IRS2 13q34 insulin receptor substrate 2 COL4A1 13q34 collagen, type IV, alpha 1 COL4A2 13q34 collagen, type IV, alpha 2 RAB20 13q34 RAB20, member RAS oncogene family FLJ10769 13q34 hypothetical protein FLJ10769 FLJ12118 13q34 hypothetical protein FLJ12118 ING1 13q33-q34 inhibitor of growth family, member 1 LOC387946 13 LOC387946 LOC283487 13q34 hypothetical protein LOC283487 ANKRD10 13q34 ankyrin repeat domain 10 ADPRTP1 13q34 ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase) pseudogene 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 4335 36.8 333 - 2008 PMID: 187137
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel     Homo sapiens
    Skin/Tegumentskin     Homo sapiens
    Visualeyeretina  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal   Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousastrocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • C-terminal site for binding PDZ-domain containing protein
    • HOMOLOGY
    interspecies ortholog to Efnb2, Rattus norvegicus
    ortholog to Efnb2, Mus musculus
    ortholog to EFNB2, Pan troglodytes
    ortholog to efnb2a, Danio rerio
    Homologene
    FAMILY
  • ephrin family
    • CATEGORY signaling , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
    text type 1 transmembrane protein
    basic FUNCTION
  • a functional receptor for Nipah virus (
  • involved in short-range contact-mediated axonal guidance
  • also involved in angiogenesis by marking arterial but not venous endothelial cells an in the control of blood-vessel remodelling
  • controlling cell motility
  • controlling adhesion during blood-vessel-wall assembly
  • play essential roles in renal angiogenesis, blood vessel maturation, and kidney disease
  • controls angiogenic and lymphangiogenic growth
  • EFNB2-reverse signalling through PDZ interactions controls vessel sprouting by promoting tip cell filopodial extension during developmental angiogenesis
  • controls VEGF receptor KDR internalization and signalling (
  • essential components of the Reelin receptor/signalling pathway to control neuronal migration during the development of the nervous system (
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • Eph receptor B6, EPHB6 (
  • Eph receptor A4, EPHB4 (
  • metabotropic glutamate receptor 1, mGlu1 (
  • CD31 (
  • ligand for Eph receptor tyrosine kinases, promoting sprouting behaviour and motility in the angiogenic endothelium
  • its activation induces KDR internalization and activation, thereby controlling tip cell filopodial extension and vascular sprouting
  • at the tip cell filopodia regulates the proper spatial activation of KDR endocytosis and signalling to direct filopodial extension
    • cell & other
    REGULATION
    Other regulated by PTH and PTHLH acting in a paracrine or autocrine manner on EPHB4 or EPHB2 in the osteoblast
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    associated with low stage neuroblastoma and NTRK1 high expression
    constitutional     --over  
    in adult endothelial cells during arterial remodeling and controlled by cyclic stretch, a well-known inducer of such processes
    tumoral     --over  
    by advancement of the oesophageal squamous cell carcinoma process
    tumoral     --other  
    deregulated EPHB2 expression may play a role in several cancer types with loss of EPHB2 expression serving as an indicator of the possible pathogenetic role of EPHB2 signaling in the maintenance of tissue architecture of colon epithelium
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • for colobomata in del 13q
  • biological marker and a useful prognostic indicator in patients with oesophageal squamous cell carcinoma
    • Marker
    Therapy target
    SystemTypeDisorderPubmed
    immunologyautoimmune 
    could be targeted as a specific therapeutic approach in the development of a disease-modifying osteoarthritis drug
    tumor  
    blocking EFNB2 signalling in tumours might represent an intriguing strategy to interfere simultaneously with both KDR and FLT4 function that could be used as an alternative or combinatorial anti-angiogenic treatment for tumour therapy
    ANIMAL & CELL MODELS
  • ephrin-B2 knockout mice display defects in angiogenesis by both arteries and veins in the capillary networks of the head and yolk sac as well as in myocardial trabeculation (
  • loss of the ephrinB2 cytoplasmic domain in mouse results in midgestation lethality (
  • ephrinB2DeltaV mice expressing ephrinB2 lacking the C-terminal PDZ interaction site exhibited major lymphatic defects, including a failure to remodel their primary lymphatic capillary plexus into a hierarchical vessel network, hyperplasia, and lack of luminal valve formation (
  • ephrinB2(5F/5F) mice, expressing ephrinB2 in which the five conserved tyrosine residues were replaced by phenylalanine to disrupt phosphotyrosine-dependent signaling events, displayed only a mild lymphatic phenotype (
  • deletions of the gene reveal its essential roles for conduit vessel development in mice, suggesting similar functions during human vascular development and deregulation in vascular malformations (
  • Efnb2(-/-) knockout show neuronal migration defects that recapitulate the ones observed in the neocortex, hippocampus and cerebellum of the reeler mouse (
  • triple ephrin B1, B2, B3 knockouts knockout show neuronal migration defects that recapitulate the ones observed in the neocortex, hippocampus and cerebellum of the reeler mouse (