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EFNB1 Gene

protein-coding   GIFtS: 69
GCID: GC0XP068048

Ephrin-B1

(Previous name: craniofrontonasal syndrome (craniofrontonasal dysplasia))
(Previous symbols: EPLG2, CFNS)
  See EFNB1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ephrin-B11 2     LERK22 3
EPLG21 2 3 5     ELK Ligand2 3
CFNS1 2 5     CFND2 5
EPH-Related Receptor Tyrosine Kinase Ligand 22 3     Craniofrontonasal Syndrome (Craniofrontonasal Dysplasia)1
EFL-32 3     Elk-L2
EFL32 3     Ligand Of Eph-Related Kinase 22
LERK-22 3     ELK-L3

External Ids:    HGNC: 32261   Entrez Gene: 19472   Ensembl: ENSG000000907767   OMIM: 3000355   UniProtKB: P981723   

Export aliases for EFNB1 gene to outside databases

Previous GC identifers: GC0XP064226 GC0XP065526 GC0XP066282 GC0XP066915 GC0XP067831 GC0XP067965 GC0XP061874


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for EFNB1 Gene:
The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine
kinases. It may play a role in cell adhesion and function in the development or maintenance of the nervous
system. (provided by RefSeq, Jul 2008)

GeneCards Summary for EFNB1 Gene:
EFNB1 (ephrin-B1) is a protein-coding gene. Diseases associated with EFNB1 include craniofrontonasal syndrome, and congenital diaphragmatic hernia. GO annotations related to this gene include ephrin receptor binding. An important paralog of this gene is EFNB2.

UniProtKB/Swiss-Prot: EFNB1_HUMAN, P98172
Function: Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to, and induce the collapse of,
commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally
projecting axons (By similarity)
Function: Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are
crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds
promiscuously Eph receptors 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. Binds to the receptor
tyrosine kinases EPHB3 (preferred), EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural
axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons
(By similarity)

Gene Wiki entry for EFNB1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011651.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the EFNB1 gene promoter:
         c-Fos   NF-1/L   NF-1   Spz1   AP-1   Sp1   Nkx2-5   Ik-3   c-Ets-1   MZF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEFNB1 promoter sequence
   Search Chromatin IP Primers for EFNB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EFNB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq12   Ensembl cytogenetic band:  Xq13.1   HGNC cytogenetic band: Xq12

EFNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFNB1 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP068048:  view genomic region     (about GC identifiers)

Start:
68,048,840 bp from pter      End:
68,062,007 bp from pter
Size:
13,168 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EFNB1_HUMAN, P98172 (See protein sequence)
Recommended Name: Ephrin-B1 precursor  
Size: 346 amino acids; 38007 Da
Subunit: Interacts with GRIP1 and GRIP2
Secondary accessions: D3DVU0

Explore the universe of human proteins at neXtProt for EFNB1: NX_P98172

Explore proteomics data for EFNB1 at MOPED

Post-translational modifications: 

  • Inducible phosphorylation of tyrosine residues in the cytoplasmic domain (By similarity)1
  • Ubiquitination2 at Lys289
  • Glycosylation2 at Asn139, Thr172, Thr177, Thr178, Ser179, Thr188, Ser201, Thr211
  • Modification sites at PhosphoSitePlus

  • See EFNB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004420.1  
    ENSEMBL proteins: 
     ENSP00000204961  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFN: Ephrins

    3 InterPro protein domains:
     IPR001799 Ephrin
     IPR008972 Cupredoxin
     IPR019765 Ephrin_CS

    Graphical View of Domain Structure for InterPro Entry P98172

    ProtoNet protein and cluster: P98172

    1 Blocks protein domain: IPB001799 Ephrin signature

    UniProtKB/Swiss-Prot: EFNB1_HUMAN, P98172
    Similarity: Belongs to the ephrin family
    Similarity: Contains 1 ephrin RBD (ephrin receptor-binding) domain


    Find genes that share domains with EFNB1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EFNB1_HUMAN, P98172
    Function: Binds to the receptor tyrosine kinases EPHB1 and EPHA1. Binds to, and induce the collapse of,
    commissural axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally
    projecting axons (By similarity)
    Function: Cell surface transmembrane ligand for Eph receptors, a family of receptor tyrosine kinases which are
    crucial for migration, repulsion and adhesion during neuronal, vascular and epithelial development. Binds
    promiscuously Eph receptors 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. Binds to the receptor
    tyrosine kinases EPHB3 (preferred), EPHB1 and EPHA1. Binds to, and induce the collapse of, commissural
    axons/growth cones in vitro. May play a role in constraining the orientation of longitudinally projecting axons
    (By similarity)
    Induction: By TNF

         Genatlas biochemistry entry for EFNB1:
    ephrin B-1,eph-related receptor tyrosine kinase,class B,ligand,high affinity,involved in short-range
    contact-mediated axonal guidance

         Summary: 
    EFNB1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:
                
    Brain: Dopaminergic neuron-like cells, Dopaminergic neuron-like cells
    Neurons: Dopaminergic neuron-like cells, Dopaminergic neuron-like cells

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0046875ephrin receptor binding IBA--
         
    Find genes that share ontologies with EFNB1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for EFNB1:
     Decreased Salmonella enterica  

         Selected MGI mutant phenotypes (inferred from 14 alleles(MGI details for Efnb1) (see all 19):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size/body  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with EFNB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for EFNB1: Efnb1tm1.1Sor Efnb1tm1.1Rha

       genOway: Develop your customized and physiologically relevant rodent model for EFNB1

    miRNA
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    miRTarBase miRNAs that target EFNB1:
    hsa-mir-34a-5p (MIRT025289), hsa-mir-124-3p (MIRT000478), hsa-mir-92a-3p (MIRT048918), hsa-mir-92b-3p (MIRT040525)

    Block miRNA regulation of human, mouse, rat EFNB1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate EFNB1 (see all 109):
    hsa-miR-323-3p hsa-miR-642a hsa-miR-1321 hsa-miR-300 hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b hsa-miR-759
    SwitchGear 3'UTR luciferase reporter plasmidEFNB1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EFNB1

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFNB1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EFNB1_HUMAN, P98172: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IBA--
    GO:0005887integral component of plasma membrane TAS8660976
    GO:0016020membrane ----

    Find genes that share ontologies with EFNB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EFNB1 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1EphB-EphrinB Signaling
    EphB-EphrinB Signaling0.58
    Cytoskeleton remodeling Reverse signaling by ephrin B0.34
    Ephrin-Eph Signaling0.58
    2EPHB forward signaling
    EPHB forward signaling0.30
    EphrinB-EPHB pathway0.00
    Cell adhesion Ephrins signaling0.30
    3Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors
    4Ephrin B reverse signaling
    Ephrin B reverse signaling
    5Axon guidance
    Axon guidance


    Find genes that share SuperPaths with EFNB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for EFNB1
        EphB-EphrinB Signaling
    Ephrin-Eph Signaling

    2 Cell Signaling Technology (CST) Pathways for EFNB1
        Angiogenesis
    Tyrosine Kinases / Adaptors

    2 GeneGo (Thomson Reuters) Pathways for EFNB1
        Cytoskeleton remodeling Reverse signaling by ephrin B
    Cell adhesion Ephrins signaling

    3 BioSystems Pathways for EFNB1
        Ephrin B reverse signaling
    EPHB forward signaling
    EphrinB-EPHB pathway



    1 Kegg Pathway  (Kegg details for EFNB1):
        Axon guidance

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EFNB1: 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              WNT Signaling Targets in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for EFNB1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EFNB1 (P981721, 3 ENSP000002049614) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SDCBPO005603, ENSP000002601304I2D: score=4 STRING: ENSP00000260130
    EPHB1P547623, ENSP000003810974I2D: score=2 STRING: ENSP00000381097
    RGS3P497963, ENSP000002594064I2D: score=2 STRING: ENSP00000259406
    PSEN1P497683, ENSP000003263664I2D: score=1 STRING: ENSP00000326366
    EPHB2P293233, ENSP000003637634I2D: score=3 STRING: ENSP00000363763
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001755neural crest cell migration IEA--
    GO:0007155cell adhesion TAS8798744
    GO:0007267cell-cell signaling TAS8798744
    GO:0007411axon guidance IBA--
    GO:0009880embryonic pattern specification IEA--

    Find genes that share ontologies with EFNB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EFNB1

    1 Novoseek inferred chemical compound relationship for EFNB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 57.4 11 12709432 (3), 18690387 (2), 16639408 (1), 8798744 (1) (see all 8)



    Find genes that share compounds with EFNB1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EFNB1 gene: 
    NM_004429.4  

    Unigene Cluster for EFNB1:

    Ephrin-B1
    Hs.144700  [show with all ESTs]
    Unigene Representative Sequence: NM_004429
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000204961(uc004dxd.4 uc004dxe.2)
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    hsa-miR-323-3p hsa-miR-642a hsa-miR-1321 hsa-miR-300 hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b hsa-miR-759
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    Additional mRNA sequence: 

    AK311197.1 BC016649.1 BC052979.1 L37361.1 U09303.1 U09304.1 

    8 DOTS entries:

    DT.448860  DT.100783174  DT.95367583  DT.100025151  DT.100783175  DT.100783178  DT.121296806  DT.95262325 

    Selected AceView cDNA sequences (see all 270):

    AA303572 CA425297 AA975667 BC016649 AI580164 BQ427496 BF059597 AA478616 
    BP365201 BI767469 BF511038 AA303391 BE777967 BU733148 AA780779 BM974665 
    CR598339 NM_004429 BM742957 AI423690 AI342243 AI499824 F09487 AA917864 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EFNB1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAAAAAAA
    EFNB1 Expression
    About this image


    EFNB1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Midbrain tegmentum
     
     Neural Crest (Gastrulation Derivatives)
             Cardiac Neural Crest Cells Branchial Arch 3,4,6
     
     Kidney (Urinary System)
             Metanephros
     
     Lower Urinary Tract (Urinary System)
             Ureter
    EFNB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EFNB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.144700

    UniProtKB/Swiss-Prot: EFNB1_HUMAN, P98172
    Tissue specificity: Heart, placenta, lung, liver, skeletal muscle, kidney, pancreas

        Pathway & Disease-focused RT2 Profiler PCR Arrays including EFNB1: 
              Notch Signaling Targets in human mouse rat
              Neurogenesis in human mouse rat
              WNT Signaling Targets in human mouse rat
              Polycomb & Trithorax Target Genes in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFNB1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for EFNB1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Efnb11 , 5 ephrin B11, 5 90.72(n)1
    95.94(a)1
      X (43.22 cM)5
    136411  NM_010110.41  NP_034240.11 
     991361305 
    chicken
    (Gallus gallus)
    Aves EFNB11 ephrin-B1 77.45(n)
    79.94(a)
      395896  NM_205035.1  NP_990366.1 
    lizard
    (Anolis carolinensis)
    Reptilia EFNB16
    ephrin-B1
    67(a)
    1 ↔ 1
    AAWZ02037107(12596-15803)
    African clawed frog
    (Xenopus laevis)
    Amphibia efnb1-A2 ephrin-B1 (EPH family ligand) 79.94(n)    U31427.1 
    zebrafish
    (Danio rerio)
    Actinopterygii efnb12 ephrin B1 76.57(n)   114377  AF375224.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ephrin6
    Ephrin
    10(a)
    1 → many
    4(592381-600748)
    worm
    (Caenorhabditis elegans)
    Secernentea efn-26
    efn-36
    (see all 3)
    Protein EFN-3 (efn-3) mRNA, complete cds
    (see all 3)
    28(a)
    27(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(10576350-10578286) WBGene00001163
    X(13476101-13477456) WBGene00001164


    ENSEMBL Gene Tree for EFNB1 (if available)
    TreeFam Gene Tree for EFNB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EFNB1 gene
    EFNB22  EFNB32  
    2 SIMAP similar genes for EFNB1 using alignment to 1 protein entry:     EFNB1_HUMAN:
    EFNB2    EFNB3

    Find genes that share paralogs with EFNB1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EFNB1 (see all 256)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289360691,2,,4
    CCraniofrontonasal syndrome (CFNS)4 pathogenic168066963(+) AGGGCA/GGTGTG 2 S G mis1 ese30--------
    rs289360701,2,,4
    CCraniofrontonasal syndrome (CFNS)4 pathogenic168066964(+) GGGCGG/TTGTGT 2 G V mis1 ese30--------
    rs289360711,2,,4
    CCraniofrontonasal syndrome (CFNS)4 pathogenic168066984(+) GCACCA/GTGAAG 2 M V mis1 ese30--------
    rs289351701,2,,4
    CCraniofrontonasal syndrome (CFNS)4 pathogenic168066986(+) ACCATG/TAAGAT 2 M I mis10--------
    VAR_0231374
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231372 S F mis40--------
    VAR_0231414
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231412 C Y mis40--------
    VAR_0231434
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231432 T P mis40--------
    VAR_0231404
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231402 C S mis40--------
    VAR_0231364
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231362 T A mis40--------
    VAR_0231304
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231302 L S mis40--------

    HapMap Linkage Disequilibrium report for EFNB1 (68048840 - 68062007 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for EFNB1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv516469CNV Gain19592680
    esv1584074OTHER Inversion17803354

    Human Gene Mutation Database (HGMD): EFNB1
    Locus Specific Mutation Databases (LSDB): EFNB1

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for EFNB1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300035   
    OMIM disorders: 304110  
    UniProtKB/Swiss-Prot: EFNB1_HUMAN, P98172
  • Craniofrontonasal syndrome (CFNS) [MIM:304110]: X-linked inherited syndrome characterized by
    hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip,
    joint anomalies, longitudinally grooved fingernails and other digital anomalies. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 3 diseases for EFNB1:    
    About MalaCards
    craniofrontonasal syndrome    congenital diaphragmatic hernia    hyperlipoproteinemia type v

    3 diseases from the University of Copenhagen DISEASES database for EFNB1:
    Craniofrontonasal syndrome     Craniosynostosis     Congenital diaphragmatic hernia

    Find genes that share disorders with EFNB1           About GenesLikeMe

    6 Novoseek inferred disease relationships for EFNB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    craniosynostosis 49.7 1 17300690 (1)
    cleft lip 25.3 1 17300690 (1)
    ovarian carcinoma 17.3 3 16784989 (1), 12960427 (1)
    tumors 0 5 14642617 (3), 12209731 (1)
    carcinoma 0 1 18189245 (1)
    cancer 0 7 17567680 (3), 16784989 (1), 18314490 (1), 16211011 (1)

    Genetic Association Database (GAD): EFNB1
    Human Genome Epidemiology (HuGE) Navigator: EFNB1 (1 document)

    Export disorders for EFNB1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EFNB1 gene, integrated from 10 sources (see all 126):
    (articles sorted by number of sources associating them with EFNB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS). (PubMed id 15959873)1, 2, 9 Wieland I.... Wieacker P. (Hum. Mutat. 2005)
    2. A novel mutation in EFNB1, probably with a dominant negative effect, underlying craniofrontonasal syndrome. (PubMed id 16526919)1, 3, 9 Shotelersuk V....Ausavarat S. (Cleft Palate Craniofac. J. 2006)
    3. Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis. (PubMed id 20643727)1, 4 Wilkie A.O....Wall S.A. (Pediatrics 2010)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (Nature 2005)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    6. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. (PubMed id 15124102)1, 2 Wieland I.... Wieacker P. (Am. J. Hum. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome. (PubMed id 15166289)1, 2 Twigg S.R.F.... Wilkie A.O.M. (Proc. Natl. Acad. Sci. U.S.A. 2004)
    9. EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains. (PubMed id 10197531)1, 2 Brueckner K....Klein R. (Neuron 1999)
    10. Assignment of the gene (EPLG2) encoding a high-affinity binding protein for the receptor tyrosine kinase elk to a 200-kilobasepair region in human chromosome Xq12. (PubMed id 7774950)1, 3 Fletcher F.A....Belmont J.W. (Genomics 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1947 HGNC: 3226 AceView: EFNB1 Ensembl:ENSG00000090776 euGenes: HUgn1947
    ECgene: EFNB1 Kegg: 1947 H-InvDB: EFNB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EFNB1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EFNB1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EFNB1[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EFNB1 gene:
    Search GeneIP for patents involving EFNB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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