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

EFNA1 Gene

protein-coding   GIFtS: 64
GCID: GC01P155099

ephrin-A1


(Previous symbols: TNFAIP4, EPLG1)
 Explore 30 diseases affiliated with
EFNA1 via our new
 Human Malady Compendium 
Biological research products
for EFNA1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ephrin-A11     Tumor Necrosis Factor Alpha-Induced Protein 42 3
EPLG11 2 3 5     LERK-12 3
TNFAIP41 2 3 5     TNF Alpha-Induced Protein 42 3
LERK11 2 3     B612
ECKLG1 2     EFL12
EPH-Related Receptor Tyrosine Kinase Ligand 12 3     Ligand Of Eph-Related Kinase 12
Immediate Early Response Protein B612 3     Tumor Necrosis Factor, Alpha-Induced Protein 42

External Ids:    HGNC: 32211   Entrez Gene: 19422   Ensembl: ENSG000001692427   OMIM: 1911645   UniProtKB: P208273   

Export aliases for EFNA1 gene to outside databases

Previous GC identifers: GC01P152980 GC01P150840 GC01P151875 GC01P152317 GC01P152318 GC01P151913 GC01P153367 GC01P126462


(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 EFNA1:
This gene encodes a member of the ephrin (EPH) family. The ephrins and EPH-related receptors comprise the largest
subfamily of receptor protein-tyrosine kinases and have been implicated in mediating developmental events, especially
in the nervous system and in erythropoiesis. Based on their structures and sequence relationships, ephrins are divided
into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the
ephrin-B (EFNB) class, which are transmembrane proteins. This gene encodes an EFNA class ephrin which binds to the
EPHA2, EPHA4, EPHA5, EPHA6, and EPHA7 receptors. Two transcript variants that encode different isoforms were
identified through sequence analysis. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827
Function: Cell surface GPI-bound 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.
Plays an important role in angiogenesis and tumor neovascularization. The recruitment of VAV2, VAV3 and PI3-kinase p85
subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell
migration and assembly. Exerts anti-oncogenic effects in tumor cells through activation and down-regulation of EPHA2.
Activates EPHA2 by inducing tyrosine phosphorylation which leads to its internalization and degradation. Acts as a
negative regulator in the tumorigenesis of gliomas by down-regulating EPHA2 and FAK. Can evoke collapse of embryonic
neuronal growth cone and regulates dendritic spine morphogenesis

Gene Wiki entry for EFNA1 (Ephrin A1)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the EFNA1 gene promoter:
         CHOP-10   PPAR-gamma1   Pax-3   Lmo2   STAT3   MRF-2   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): EFNA1 promoter sequence
   Search SABiosciences Chromatin IP Primers for EFNA1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat EFNA1


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

Entrez Gene cytogenetic band: 1q21-q22   Ensembl cytogenetic band:  1q22   HGNC cytogenetic band: 1q21-q22

EFNA1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EFNA1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P155099:  view genomic region     (about GC identifiers)

Start:
155,099,936 bp from pter      End:
155,107,386 bp from pter
Size:
7,451 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827 (See protein sequence)
Recommended Name: Ephrin-A1 precursor  
Size: 205 amino acids; 23787 Da
Subunit: Monomer. Homodimer. Forms heterodimers with EPHA2. Binds to the receptor tyrosine kinases EPHA2, EPHA3, EPHA4,
EPHA5, EPHA6 and EPHA7. Also binds with low affinity to EPHA1
Subcellular location: Cell membrane; Lipid-anchor, GPI-anchor
Subcellular location: Ephrin-A1, secreted form: Secreted
3 PDB 3D structures from and Proteopedia for EFNA1:
3CZU (3D)        3HEI (3D)        3MBW (3D)    
Secondary accessions: D3DV86 Q5SR60 Q5SR61 Q6I9T9 Q8N578
Alternative splicing: 2 isoforms:  P20827-1   P20827-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for EFNA1: NX_P20827

Post-translational modifications:

  • Undergoes proteolysis by a metalloprotease to give rise to a soluble monomeric form1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20827

  • EFNA1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_004419.2  NP_872626.1  

    ENSEMBL proteins: 
     ENSP00000357392   ENSP00000357391  

    Human Recombinant Protein Products: 
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    Novus Biologicals EFNA1 Proteins
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    Sino Biological Recombinant Protein for EFNA1
    ProSpec Recombinant Protein for EFNA1
    Uscn Proteins for EFNA1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005887integral to plasma membrane TAS8660976
    GO:0046658anchored to plasma membrane IEA--


    EFNA1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    EFNA1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR001799 Ephrin
     IPR008972 Cupredoxin
     IPR019765 Ephrin_CS

    Graphical View of Domain Structure for InterPro Entry P20827

    ProtoNet protein and cluster: P20827

    1 Blocks protein family: IPB001799 Ephrin signature

    UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827
    Similarity: Belongs to the ephrin family
    Similarity: Contains 1 ephrin RBD (ephrin receptor-binding) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827
    Function: Cell surface GPI-bound 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.
    Plays an important role in angiogenesis and tumor neovascularization. The recruitment of VAV2, VAV3 and PI3-kinase p85
    subunit by phosphorylated EPHA2 is critical for EFNA1-induced RAC1 GTPase activation and vascular endothelial cell
    migration and assembly. Exerts anti-oncogenic effects in tumor cells through activation and down-regulation of EPHA2.
    Activates EPHA2 by inducing tyrosine phosphorylation which leads to its internalization and degradation. Acts as a
    negative regulator in the tumorigenesis of gliomas by down-regulating EPHA2 and FAK. Can evoke collapse of embryonic
    neuronal growth cone and regulates dendritic spine morphogenesis
    Induction: By TNF and IL1B/interleukin-1 beta

         Genatlas biochemistry entry for EFNA1:
    ephrin A-1,eph-related receptor tyrosine kinase,class A,ligand,high affinity,involved in short-range contact-mediated
    axonal guidance

    miRNA
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    hsa-mir-218 (MIRT001058)

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat EFNA1
    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate EFNA1 (see all 18):
    hsa-miR-485-5p hsa-miR-429 hsa-miR-938 hsa-miR-1271 hsa-miR-1304 hsa-miR-9 hsa-miR-3674 hsa-miR-296-5p
    SwitchGear 3'UTR luciferase reporter plasmidEFNA1 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFNA1

    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding TAS8660976
    GO:0005515protein binding IPI19573808
    GO:0046875ephrin receptor binding IPI15777695


    EFNA1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Efna1tm1Jinc for EFNA1
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Efna1):
     cardiovascular system  muscle  skeleton 

    EFNA1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/11 super-pathways (see all 11About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1G-protein signaling_RhoA regulation pathway
    G-protein signaling_RhoA regulation pathway1.00
    EphrinA-EphR Signaling0.26
    G-protein signaling RhoA regulation pathway1.00
    2Cell adhesion_Ephrins signaling
    Cell adhesion Ephrins signaling1.00
    Cell adhesion_Ephrins signaling1.00
    3Neurophysiological process Receptor-mediated axon growth repulsion
    Neurophysiological process Receptor-mediated axon growth repulsion1.00
    Neurophysiological process_Receptor-mediated axon growth repulsion0.94
    4Guidance Cues and Growth Cone Motility
    Guidance Cues and Growth Cone Motility1.00
    5EPHA forward signaling
    EPHA forward signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for EFNA1
        Neurophysiological process Receptor-mediated axon growth repulsion
    Cell adhesion Ephrins signaling
    G-protein signaling RhoA regulation pathway

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for EFNA1
        Guidance Cues and Growth Cone Motility
    Ephrin-Eph Signaling
    EphrinA-EphR Signaling

    3 GeneGo (Thomson Reuters) Pathways for EFNA1
        Neurophysiological process Receptor-mediated axon growth repulsion
    G-protein signaling RhoA regulation pathway
    Cell adhesion Ephrins signaling

    5 BioSystems Pathways for EFNA1 
        Stabilization and expansion of the E-cadherin adherens junction
    EPHA2 forward signaling
    Arf6 signaling events
    EPHA forward signaling
    HIF-2-alpha transcription factor network


    1         Kegg Pathway  (Kegg details for EFNA1):
        Axon guidance


    EFNA1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EFNA1

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

    5/51 Interacting proteins for EFNA1 (P208271, 2, 3 ENSP000003573924) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    EPHA2P293171, 2, 3, ENSP000003512094EBI-715194,EBI-702104 MINT-7218724 MINT-7218694 I2D: score=4 STRING: ENSP00000351209
    EEF1GP266412, 3MINT-64466 I2D: score=5 
    KAT5Q929932, 3MINT-64467 I2D: score=5 
    XRCC6P129562, 3MINT-8254963 I2D: score=2 
    PPBPP027752, 3, ENSP000002960284MINT-64465 MINT-8254952 I2D: score=5 STRING: ENSP00000296028
    About this table

    Gene Ontology (GO): 5/20 biological process terms (GO ID links to tree view) (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter ISS--
    GO:0000187activation of MAPK activity IEA--
    GO:0001525angiogenesis IEA--
    GO:0003180aortic valve morphogenesis ISS--
    GO:0003183mitral valve morphogenesis ISS--


    EFNA1 for ontologies           About GeneDecksing



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

    EFNA1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for EFNA1
    3 Novoseek chemical compound relationships for EFNA1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 64.9 20 10064801 (1), 12775584 (1), 11641774 (1), 12794130 (1) (see all 17)
    vegf 34.9 3 11331884 (1), 17765896 (1), 16359662 (1)
    oligonucleotide 29.3 3 15888795 (1)

    Search CenterWatch for drugs/clinical trials and news about EFNA1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for EFNA1 gene (2 alternative transcripts): 
    NM_004428.2  NM_182685.1  

    Unigene Cluster for EFNA1:

    Ephrin-A1
    Hs.516664  [show with all ESTs]
    Unigene Representative Sequence: AK057845
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368407(uc001fhh.3 uc001fhi.3) ENST00000368406 ENST00000469878
    ENST00000474413 ENST00000497282

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    8/18 QIAGEN miScript miRNA Assays for microRNAs that regulate EFNA1 (see all 18):
    hsa-miR-485-5p hsa-miR-429 hsa-miR-938 hsa-miR-1271 hsa-miR-1304 hsa-miR-9 hsa-miR-3674 hsa-miR-296-5p
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    Additional cDNA sequence: 

    AK057845.1 AK289589.1 AK308965.1 AK313117.1 AL833641.1 BC032698.1 BC095432.1 BC150578.1 
    CR457416.1 M57730.1 

    18 DOTS entries:

    DT.456230  DT.95346866  DT.121351158  DT.91730050  DT.121351181  DT.100825603  DT.100825621  DT.87015618 
    DT.95346864  DT.100825614  DT.100825608  DT.100825618  DT.121351123  DT.121351154  DT.91724251  DT.92440878 
    DT.121351163  DT.91699736 

    24/373 AceView cDNA sequences (see all 373):

    AL546685 BU535448 CR624077 BI761701 AI090694 CR624007 CR614778 BE876614 
    BX356997 BX095633 BQ008286 CR620274 CR599087 BG057099 CR601554 BM973136 
    AI983762 CK431215 CR592371 CA393190 BI770645 CA314937 AU120033 BI767848 

    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

    EFNA1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTACATTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    EFNA1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasIslets of LangerhansMature Beta CellsPancreas
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor 30-MV2-12 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial Progenitor 30-SM2-3 (Embryonic Progenitor Cell)Blood, Endothelium
    PureStem™ endothelial progenitor 30-SM2-1 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ epithelial progenitor E164 (Embryonic Progenitor Cell)Intermediate Mesoderm, Kidney
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ endothelial progenitor 30-MV2-14 (Embryonic Progenitor Cell)Endothelium
    PureStem™ progenitor E69 (Embryonic Progenitor Cell)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Primordial germ cell-like cells (Reconstitution of mo...)

    See EFNA1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EFNA1

    SOURCE GeneReport for Unigene cluster: Hs.516664

    UniProtKB/Swiss-Prot: EFNA1_HUMAN, P20827
    Tissue specificity: Brain. Down-regulated in primary glioma tissues compared to the normal tissues. The soluble
    monomeric form is expressed in the glioblastoma multiforme (GBM) and breast cancer cells (at protein level)

        SABiosciences Expression via Pathway-Focused PCR Arrays including EFNA1: 
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              Polycomb & Trithorax Target Genes in human mouse rat
              Angiogenesis in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EFNA1

    (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 chordates.

    Orthologs for EFNA1 gene from 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    African clawed frog
    (Xenopus laevis)
    Amphibia elfa-A-prov2 eph ligand family-a 72.89(n)    U31204.1 
    zebrafish
    (Danio rerio)
    Actinopterygii efna1a6
    efna1b6
    ephrin A1b
    47(a)
    44(a)
    1 ↔ many
    1 ↔ many
    19(9104338-9124857)
    16(25521948-25537442)


    ENSEMBL Gene Tree for EFNA1 (if available)
    TreeFam Gene Tree for EFNA1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for EFNA1 gene
    EFNA22  EFNA52  EFNA32  EFNA42  ENSG000002512462  
    4 SIMAP similar genes for EFNA1 using alignment to 2 protein entries:     EFNA1_HUMAN (see all proteins):
    EFNA5    EFNA3    EFNA4    EFNA2

    EFNA1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/153 NCBI SNPs in EFNA1 are shown (see all 153    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs341526341,2
    C--155098365(+) AATGAA/CCAAAA 2 -- us2k10--------
    rs1828234511,2
    --155098378(+) AAAACC/TCATGT 2 -- us2k10--------
    rs1889685741,2
    --155098622(+) GTGGCA/GCTGGC 2 -- us2k10--------
    rs1144181621,2
    F,--155098645(+) CCGGCC/TCTGAC 2 -- us2k11Minor allele frequency- T:0.02WA 118
    rs1488830901,2
    --155098824(+) GGGCCC/TCGCGT 2 -- us2k10--------
    rs112643301,2
    C,F,H,--155098905(+) GGGCCG/AGAGCT 2 -- us2k18Minor allele frequency- A:0.01NS NA WA 872
    rs596985741,2
    --155099366(+) CACGCC/GGGTAC 2 -- us2k10--------
    rs1907156301,2
    --155099411(+) CATTAC/GCATAC 2 -- us2k10--------
    rs2015511331,2
    --155099487(+) CTAGC-/AGGCGCC 2 -- us2k10--------
    rs792000771,2
    C,--155099488(+) CTAGCA/GCGCCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for EFNA1 (155099936 - 155107386 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for EFNA1
         2 CNVs: 3315 4257

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    (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.)
    About This Section

    EFNA1 for disorders           About GeneDecksing

    OMIM gene information: 191164    OMIM disorders: --

    20/30 diseases for EFNA1 (see all 30):    About MalaCards
    arteriovenous malformation    chronic lymphocytic leukemia    lymphocytic leukemia    malignant glioma
    renal cell carcinoma    pterygium    squamous cell carcinoma    gastric cancer
    colorectal cancer    endometrial carcinoma    breast cancer    colon carcinoma
    hepatocellular carcinoma    carcinoma    endometriosis    ovarian cancer
    infertility    pancreatic cancer    leukemia    osteosarcoma

    10 Novoseek disease relationships for EFNA1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 34.8 17 7780963 (6), 10502726 (6), 11891198 (1)
    tumors 28.2 34 11146556 (6), 18246128 (4), 14965363 (3), 20154726 (3) (see all 13)
    neovascularization 26 4 11146556 (2), 14965363 (1), 17049832 (1)
    cancer 15.2 8 20154726 (2), 11146556 (2), 18246128 (1), 11741747 (1) (see all 5)
    adenocarcinoma 7.15 1 9357823 (1)
    breast cancer 6.28 6 20154726 (3), 16098464 (1), 20223987 (1), 15649254 (1)
    metastasis 1.51 4 15888795 (1), 17686315 (1), 17972146 (1)
    necrosis 0 1 8070404 (1)
    gastric cancer 0 3 15649254 (2)
    colorectal cancer 0 1 14965363 (1)


    Export disorders for EFNA1 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 EFNA1 gene, integrated from 9 sources (see all 124):
    (articles sorted by number of sources associating them with EFNA1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel immediate-early response gene of endothelium is induced by cytokines and encodes a secreted protein. (PubMed id 2233719)1, 2, 3 Holzman L.B.... Dixit V.M. (1990)
    2. Ephrin-A1 is a negative regulator in glioma through down-regulation of EphA2 and FAK. (PubMed id 17332925)1, 2, 9 Liu D.P....Xie D. (2007)
    3. The genes encoding the eph-related receptor tyrosine kinase ligands LERK-1 (EPLG1, Epl1), LERK-3 (EPLG3, Epl3), and LERK-4 (EPLG4, Epl4) are clustered on human chromosome 1 and mouse chromosome 3. (PubMed id 8660976)1, 3, 9 Cerretti D.P....Morris S.W. (1996)
    4. Ligand recognition by A-class Eph receptors: crystal structures of the EphA2 ligand-binding domain and the EphA2/ephrin-A1 complex. (PubMed id 19525919)1, 2, 9 Himanen J.P.... Nikolov D.B. (2009)
    5. Soluble monomeric EphrinA1 is released from tumor cells and is a functional ligand for the EphA2 receptor. (PubMed id 18794797)1, 2 Wykosky J....Debinski W. (2008)
    6. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    7. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    8. 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)
    9. Ligands for the receptor tyrosine kinases hek and elk: isolation of cDNAs encoding a family of proteins. (PubMed id 7838529)1, 2 Kozlosky C.J.... Beckmann M.P. (1995)
    10. Ephrin-A1 suppresses Th2 cell activation and provides a regulatory link to lung epithelial cells. (PubMed id 14707054)1, 9 Wohlfahrt J.G....Schmidt-Weber C.B. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
    Disorders
    Free Text  

      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1942 HGNC: 3221 AceView: EFNA1 Ensembl:ENSG00000169242 euGenes: HUgn1942
    ECgene: EFNA1 Kegg: 1942 H-InvDB: EFNA1

    (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 EFNA1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EFNA1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for EFNA1 gene:
    Search GeneIP for patents involving EFNA1

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



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