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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EFNB1 Gene

protein-coding   GIFtS: 69
GCID: GC0XP068048

Ephrin-B1

(Previous name: craniofrontonasal syndrome (craniofrontonasal dysplasia))
(Previous symbols: EPLG2, CFNS)
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Cell adhesion Ephrins signaling and Ephrin-Eph Signaling. GO annotations related to this gene include protein binding and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_011669.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EFNB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Membrane; Single-pass type I membrane protein
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:

  • UniProtKB: Inducible phosphorylation of tyrosine residues in the cytoplasmic domain (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P98172

  • EFNB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EFNB1 Protein Expression
    REFSEQ proteins: NP_004420.1  
    ENSEMBL proteins: 
     ENSP00000204961  

    Human Recombinant Protein Products for EFNB1: 
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    ProSpec Recombinant Protein for EFNB1
    Cloud-Clone Corp. Proteins for EFNB1 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--
    GO:0005887integral to plasma membrane TAS8660976
    GO:0016020membrane ----
    GO:0045121membrane raft IEA--

    EFNB1 for ontologies           About GeneDecksing



    EFNB1 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    EFNB1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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: Dopaminergic neuron-like cells from Brain

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0046875ephrin receptor binding IEA--
         
    EFNB1 for ontologies           About GeneDecksing


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

         15/19 MGI mutant phenotypes (inferred from 14 alleles(MGI details for Efnb1) (see all 19):
     cellular  craniofacial  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 

    EFNB1 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EFNB1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EFNB1

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    miRNA
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    miRTarBase miRNAs that target EFNB1:
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    8/109 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFNB1


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EFNB1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell adhesion Ephrins signaling
    Cell adhesion Ephrins signaling0.30
    EPHB forward signaling0.30
    2EphB-EphrinB Signaling
    Ephrin-Eph Signaling0.58
    EphB-EphrinB Signaling0.58
    3Cytoskeleton remodeling Reverse signaling by ephrin B
    Cytoskeleton remodeling Reverse signaling by ephrin B0.94
    4Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors
    5EphrinB-EPHB pathway
    EphrinB-EPHB pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for EFNB1
        Cytoskeleton remodeling Reverse signaling by ephrin B
    Cell adhesion Ephrins signaling

    2 Downloadable PowerPoint Slides of QIAGEN 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


    EFNB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EFNB1

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

    5/56 Interacting proteins for EFNB1 (P981721, 3 ENSP000002049614) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    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
    PTPN13Q129233, ENSP000003947944I2D: score=5 STRING: ENSP00000394794
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    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 IEA--
    GO:0009880embryonic pattern specification IEA--

    EFNB1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EFNB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about EFNB1

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    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 

    24/270 AceView cDNA sequences (see all 270):

    BP352942 AI493384 AW135725 BM792408 BM473426 BQ427496 NM_004429 AI127454 
    CA425297 BI767469 C18859 F09487 AA975667 AI342243 AI580158 BF594427 
    BU859104 BI771853 CR598339 AW137314 U09304 BU172498 AA917864 BQ007868 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EFNB1 expression in normal human tissues (normalized intensities)      EFNB1 embryonic expression: see
    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 
     5/20 selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Substantia Nigra   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Telencephalon
             spinal cord/lateral wall/ventricular layer   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             Ureter
             visceral organ/bladder   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             spinal cord/lateral wall/ventricular layer   

    See EFNB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EFNB1

    SOURCE GeneReport for Unigene cluster: Hs.144700

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

        SABiosciences Expression via Pathway-Focused 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

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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat EFNB1
    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for EFNB1 gene from 7/13 species (see all 13)    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)
    79.64(a)
      395896  NM_205035.1  NP_990366.1 
    lizard
    (Anolis carolinensis)
    Reptilia EFNB16
    Uncharacterized protein
    69(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
    9(a)
    1 → many
    4(592381-600748)
    worm
    (Caenorhabditis elegans)
    Secernentea efn-21 Protein EFN-2 43.31(n)
    31.85(a)
      177949  NM_069554.4  NP_501955.2 


    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)
    About This Section
    Paralogs for EFNB1 gene
    EFNB22  EFNB32  
    2 SIMAP similar genes for EFNB1 using alignment to 1 protein entry:     EFNB1_HUMAN:
    EFNB2    EFNB3

    EFNB1 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/256 SNPs in EFNB1 are shown (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
    ----------
    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--------
    VAR_0231334
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231332 P H mis40--------
    VAR_0231284
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231282 P L mis40--------
    VAR_0231354
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231352 P T mis40--------
    VAR_0231464
    Craniofrontonasal syndrome (CFNS)4--see VAR_0231462 S R 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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EFNB1
    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/24 diseases for EFNB1 (see all 24):    About MalaCards
    craniofrontonasal syndrome    congenital diaphragmatic hernia    hernia    craniosynostosis
    synostosis    intrahepatic cholangiocarcinoma    cholangiocarcinoma    crohn's disease
    rhabdomyosarcoma    cleft lip    osteosarcoma    atherosclerosis
    ischemia    mental retardation    cerebritis    gastric cancer
    rheumatoid arthritis    arthritis    hepatocellular carcinoma    colorectal cancer

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

    EFNB1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for EFNB1 gene, integrated from 9 sources (see all 124):
    (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. (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. (2006)
    3. Prevalence and complications of single-gene and chrom osomal disorders in craniosynostosis. (PubMed id 20643727)1, 4 Wilkie A.O....Wall S.A. (2010)
    4. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    6. Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome. (PubMed id 15124102)1, 2 Wieland I.... Wieacker P. (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. (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. (2004)
    9. EphrinB ligands recruit GRIP family PDZ adaptor proteins into raft membrane microdomains. (PubMed id 10197531)1, 2 Brueckner K....Klein R. (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. (1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1947 HGNC: 3226 AceView: EFNB1 Ensembl:ENSG00000090776 euGenes: HUgn1947
    ECgene: EFNB1 Kegg: 1947 H-InvDB: EFNB1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/EFNB1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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