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FLASH GENE
Symbol EFNB1 contributors: snh - updated : 09-01-2012
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) EPLG2, LERK2, LERK-2, Elk-L, EFL3, EFL-3, D15D4, STRA1, CFNS
    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)
    Physical map
    AR Xq11.21-q12.1 androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease) OPHN1 Xq12 oligophrenin 1 PGK1P1 Xq12 phosphoglycerate kinase 1, pseudogene 1 MGC21416 Xq12 hypothetical protein MGC21416 LOC392487 X similar to ribosomal protein L31 STARD8 Xq12 START domain containing 8 LOC389866 X similar to PAI-1 mRNA-binding protein; chromodomain helicase DNA binding protein 3 interacting protein EFNB1 Xq12 ephrin-B1 LOC389867 X LOC389867 PJA1 Xq12 praja 1 FLJ33610 Xq13.1 hypothetical protein FLJ33610 HCP43 Xq13.1 cytochrome c, somatic pseudogene TED Xq13.1 TED protein ED1 Xq12-q13.1 ectodermal dysplasia 1, anhidrotic LOC158835 Xq13.1 similar to bA351K23.5 (novel protein) LOC139562 Xq13.1 similar to bA351K23.4 (novel protein) IGBP1 Xq13.1-q13.4 immunoglobulin (CD79A) binding protein 1 FLJ25989 Xq13.1 FLJ25989 protein LOC158833 Xq13.1 hypothetical protein LOC158833 P2RY4 Xq13 pyrimidinergic receptor P2Y, G-protein coupled, 4 ARR3 Xq13.1 arrestin 3, retinal (X-arrestin) LOC347517 Xq13.1 similar to DNA segment, Chr 9, Brigham & Womens Genetics 0185 expressed LOC51248 Xq13.1 hypothetical protein LOC51248 KIF4A Xq13.1 kinesin family member 4A OBDPF Xq13.1 osteoblast differentiation promoting factor DLG3 Xq13.1 discs, large (Drosophila) homolog 3 (neuroendocrine-dlg) TEX11 Xq12-q13.1 testis expressed sequence 11
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 3344 - 346 - -
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveesophagus   highly
     intestinelarge intestinecolon highly
    Endocrinepancreas    
    Nervousbrain    
    Reproductivefemale systemovary  highly
     male systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    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
    text type 1 membrane protein
    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 (
  • 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 (
  • cell & other
    REGULATION
    induced by TNF-alpha
    ASSOCIATED DISORDERS
    corresponding disease(s) CFNS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    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 (