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FLASH GENE
Symbol EFNB1 contributors: mct - updated : 04-04-2020
HGNC name ephrin-B1
HGNC id 3226
Corresponding disease
CFNS craniofrontonasal dysplasia with coronal craniosynostosis
Location Xq13.1      Physical location : 68.048.839 - 68.062.004
Synonym name
  • stimulated by retinoic acid 1
  • craniofrontonasal syndrome (craniofrontonasal dysplasia)
  • ELK ligand
  • eph-related receptor tyrosine kinase ligand 2
  • ligand of eph-related kinase 2efnb1
  • Synonym symbol(s) MGC8782, EPLG2, LERK2, LERK-2, Elk-L, EFL3, EFL-3, D15D4, STRA1, CFNS, CFND
    DNA
    TYPE functioning gene
    STRUCTURE 13.17 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Map cen - DXS8380 - EFNB1 - DXS8040 - DXS1216 - qter
    Authors Fletcher (95)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3344 - 346 - 2019 30326247
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     intestinelarge intestinecolon highly
    Endocrinepancreas    
    Nervousbrain    
    Reproductivefemale systemovary  highly
     male systemprostate   
    Respiratorylung    
    Skeleton      Homo sapiens
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticprogenitor cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a tyrosine kinase domain
  • a SAM motif
  • a PDZ motif involved in forward signaling
  • a globular ephrin-binding domain (GLOB)
  • a cysteine-rich region
  • two fibronectin III repeats on the extracellular side
  • HOMOLOGY
    interspecies ortholog to Efnb1, Mus musculus
    ortholog to Efnb1, Rattus norvegicus
    ortholog to EFNB1, Pan troglodytes
    ortholog to efnb1, Danio rerio
    Homologene
    FAMILY ephrin family
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
        intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    intracellular,nucleus
    text type 1 membrane protein
  • EFNB1 co-localizes with MTs during all phases of the cell cycle 3)
  • basic FUNCTION
  • provide positional cues required for the normal morphogenesis of skeletal elements (
  • acts both as a ligand and as a receptor in a tissue-specific manner during embryogenesis (
  • ligand for eph-related receptor tyrosine kinase, involved in short-range contact-mediated axonal guidance
  • may be playing a role in cell adhesion and function in the development or maintenance of the nervous system
  • playing a role in tissue boundary formation
  • binds to the cytoplasmic domain of EFNB1, which is expressed in cortical neural progenitors and plays a role in neural progenitor cell maintenance
  • essential components of the Reelin receptor/signalling pathway to control neuronal migration during the development of the nervous system (
  • novel function of EFNB1 and EFNB2 in stabilizing IL7R expression at the post-translational level
  • function of EFNB1 in the T cell compartment could be compensated by other members of the EFN family, and that such redundancy safeguards the pivotal roles of EFNB1 in T cell development and function
  • is necessary for cardiac tissue architecture cohesion by stabilizing the adult cardiomyocytes (CM) morphology through regulation of its lateral membrane
  • EFNB1 inhibits nonradial migration of pyramidal neurons, thereby controlling the pattern of cortical columns
  • contributes to the suppression of adipose inflammatory response
  • is a novel microtubule associated protein (MAP)
  • importance of ephrinB1 signalling between cells of the skeleton required for endochondral ossification
  • EFNB1-mediated repulsion and signaling control germinal center T cell territoriality and function
  • influences bone loss during the development of osteoporosis, by regulating both osteoblast and osteoclast formation and function, leading to a loss of skeletal integrity
  • contributes to the stromal support of hematopoietic stem/progenitor cells (HSPCs) function and maintenance and may be an important factor in regulating the HSPC niche
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule cofactor,
    stimulated by retinoic acid 1
    protein
  • Human embryonal kinase 2, HEK2 (
  • growth factor receptor-bound protein 7, Grb7 (
  • T-cell lymphoma invasion and metastasis 1, TIAM1 (
  • EFNB1 and EFNB2 interacted physically with IL7R
  • SMURF1 interaction with EFNB1 prevents the association with SMURF2 and precludes EFNB1 from ubiquitination and degradation, since it is a substantially weaker substrate for SMURF1
  • EFNB1 interacts with Connector Enhancer of KSR1 (CNKSR1) in an EphB receptor-independent manner
  • astrocytic EFNB1 may play an active role in injury-induced synapse remodeling through the activation of STAT3-mediated signaling in astrocytes
  • interaction between the two unrelated guidance receptors EFNBB1 and NRP1, that is used to control the navigation of post-crossing axons in the corpus callosum
  • cell & other
    REGULATION
    induced by TNF-alpha
    ASSOCIATED DISORDERS
    corresponding disease(s) CFNS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --other  
    dysregulated in medulloblastoma (MB) and promotes oncogenic responses in MB cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerbrain 
    potential therapeutic target in medulloblastoma (MB)
    ANIMAL & CELL MODELS
  • targeted inactivation of the Eph receptor ligand ephrinB1 in mouse caused perinatal lethality, edema, defective body wall closure, and skeletal abnormalities (
  • Complete ablation of ephrin-B1 in mouse results in perinatal lethality associated with a range of phenotypes, including defects in neural crest cell (NCC)-derived tissues, incomplete body wall closure, and abnormal skeletal patterning (
  • 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 (
  • EfnB1 mRNA and protein levels were significantly decreased in adipose tissues of obese mice and such reduction was mainly observed in mature adipocytes