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NGEF Gene

protein-coding   GIFtS: 59
GCID: GC02M233707

Neuronal Guanine Nucleotide Exchange Factor

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(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
Neuronal Guanine Nucleotide Exchange Factor1 2 3
Eph-Interacting Exchange Protein2 3
ephexin1
ARHGEF272
EPHEXIN2
ephexin-12

External Ids:    HGNC: 78071   Entrez Gene: 257912   Ensembl: ENSG000000662487   OMIM: 6059915   UniProtKB: Q8N5V23   

Export aliases for NGEF gene to outside databases

Previous GC identifers: GC02M231800 GC02M232472 GC02M233945 GC02M233568 GC02M233451 GC02M225592


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for NGEF Gene:
NGEF (neuronal guanine nucleotide exchange factor) is a protein-coding gene. GO annotations related to this gene include phospholipid binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF19.

UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2
Function: Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1
and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine
morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its
activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone
extension (By similarity)




(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_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the NGEF gene promoter:
         AhR   Brachyury   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Arnt   N-Myc   MEF-2A   aMEF-2   
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 2q37   Ensembl cytogenetic band:  2q37.1   HGNC cytogenetic band: 2q37

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M233707:  view genomic region     (about GC identifiers)

Start:
233,743,396 bp from pter      End:
233,877,982 bp from pter
Size:
134,587 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2 (See protein sequence)
Recommended Name: Ephexin-1  
Size: 710 amino acids; 82496 Da
Subunit: Interacts with CDK5R1 and EPHA4; activated by EPHA4 through the CDK5 kinase (By similarity)
Sequence caution: Sequence=AAH73962.1; Type=Erroneous initiation; Sequence=AAX93288.1; Type=Erroneous initiation;
Sequence=CAC00686.1; Type=Frameshift; Positions=156;
Secondary accessions: B4DMB8 B9A045 E9PC42 Q53QQ4 Q53ST7 Q6GMQ5 Q9NQD6
Alternative splicing: 3 isoforms:  Q8N5V2-1   Q8N5V2-2   Q8N5V2-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NGEF: NX_Q8N5V2

Explore proteomics data for NGEF at MOPED

Post-translational modifications: 

  • Src-dependent phosphorylation at Tyr-179 upon EPHA4 activation increases the guanine exchange factor activity
    toward RHOA. Phosphorylation by CDK5 upon EPHA4 activation by EFNA1 may regulate dendritic spine morphogenesis
    (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001107562.1  NP_062824.2  

    ENSEMBL proteins: 
     ENSP00000264051   ENSP00000362653   ENSP00000387591   ENSP00000401063   ENSP00000412614  
     ENSP00000407544   ENSP00000387033   ENSP00000405053   ENSP00000439035  
    Reactome Protein details: Q8N5V2

    NGEF Human Recombinant Protein Products:

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    Novus Biologicals NGEF Protein
    Novus Biologicals NGEF Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NGEF

     
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    NGEF Antibody Products:

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    Search ThermoFisher Antibodies for NGEF
    Search LSBio for Antibodies for NGEF

    NGEF Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for NGEF
    Cloud-Clone Corp. CLIAs for NGEF
    Search eBioscience for ELISAs for NGEF 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARHGEF: Rho guanine nucleotide exchange factors

    4 InterPro protein domains:
     IPR000219 DH-domain
     IPR001849 Pleckstrin_homology
     IPR001452 SH3_domain
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q8N5V2

    ProtoNet protein and cluster: Q8N5V2

    3 Blocks protein domains:
    IPB000219 DH domain
    IPB001452 SH3 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2
    Domain: The DH domain and the PH domain are both required to mediate interaction with EPHA4 (By similarity)
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with NGEF           About GenesLikeMe


    (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,
    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: NGEF_HUMAN, Q8N5V2
    Function: Acts as a guanine nucleotide exchange factor (GEF) which differentially activates the GTPases RHOA, RAC1
    and CDC42. Plays a role in axon guidance regulating ephrin-induced growth cone collapse and dendritic spine
    morphogenesis. Upon activation by ephrin through EPHA4, the GEF activity switches toward RHOA resulting in its
    activation. Activated RHOA promotes cone retraction at the expense of RAC1- and CDC42-stimulated growth cone
    extension (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005089Rho guanyl-nucleotide exchange factor activity IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with NGEF           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for NGEF:
     Decreased TP53 protein express  Decreased Wnt reporter activit 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ngef):
     cellular  nervous system 

    Find genes that share phenotypes with NGEF           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ngeftm1Meg for NGEF

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NGEF
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NGEF

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    hsa-miR-200c hsa-miR-429 hsa-miR-155 hsa-miR-200b hsa-miR-3145-3p hsa-miR-103a-2* hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidNGEF 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NGEF
    Predesigned siRNA for gene silencing in human, mouse, rat NGEF

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): NGEF (NM_001114090)
    Sino Biological Human cDNA Clone for NGEF
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NGEF
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NGEF

    Cell Line
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-11928) for NGEF 


    (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
    NGEF_HUMAN, Q8N5V2: Cytoplasm (By similarity). Membrane (By similarity). Cell projection, growth cone (By
    similarity). Note=Associated with membranes. Localizes to axonal growth cones (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    nucleus3
    cytoskeleton2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane ----
    GO:0016020membrane IEA--
    GO:0030426growth cone IEA--

    Find genes that share ontologies with NGEF           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 NGEF About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1p75 NTR receptor-mediated signalling
    p75 NTR receptor-mediated signalling0.74
    NRAGE signals death through JNK0.71
    Cell death signalling via NRAGE, NRIF and NADE0.74
    G alpha (12/13) signalling events0.44
    2Signaling by GPCR
    Signaling by GPCR0.90
    Signal Transduction0.58
    GPCR downstream signaling0.90
    3Rho GTPase cycle
    Rho GTPase cycle1.00
    Signaling by Rho GTPases1.00
    4Signaling by FGFR
    Signalling by NGF0.71
    5EphB-EphrinB Signaling
    Ephrin-Eph Signaling0.58


    Find genes that share SuperPaths with NGEF           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NGEF
        RhoA Pathway
    Guidance Cues and Growth Cone Motility
    Ephrin-Eph Signaling
    EphrinA-EphR Signaling

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

    4 BioSystems Pathways for NGEF
        Regulation of CDC42 activity
    EPHA forward signaling
    Regulation of RhoA activity
    Regulation of RAC1 activity


    3 Reactome Pathways for NGEF
        G alpha (12/13) signalling events
    NRAGE signals death through JNK
    Rho GTPase cycle


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

        Pathway & Disease-focused RT2 Profiler PCR Array including NGEF: 
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NGEF

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

    Selected Interacting proteins for NGEF (Q8N5V22, 3 ENSP000002640514) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RHOAP615862, 3, ENSP000004001754MINT-6504242 I2D: score=1 STRING: ENSP00000400175
    ATP5C1P365422, 3MINT-63707 I2D: score=5 
    C7orf25Q9BPX72, 3MINT-8250054 I2D: score=2 
    C8orf33Q9H7E92, 3MINT-8250479 I2D: score=2 
    FAM118BQ9BPY32, 3MINT-8255174 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007264small GTPase mediated signal transduction TAS--
    GO:0009987cellular process ----
    GO:0035023regulation of Rho protein signal transduction ----
    GO:0043065positive regulation of apoptotic process TAS--
    GO:0043087regulation of GTPase activity ISS--

    Find genes that share ontologies with NGEF           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 NGEF

    3 HMDB Compounds for NGEF    About this table
    CompoundSynonyms CAS #PubMed Ids
    Guanosine diphosphate5'-GDP (see all 10)146-91-8--
    Guanosine monophosphate5'-GMP (see all 14)85-32-5--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--



    (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 NGEF gene (2 alternative transcripts): 
    NM_001114090.1  NM_019850.2  

    Unigene Cluster for NGEF:

    Neuronal guanine nucleotide exchange factor
    Hs.97316  [show with all ESTs]
    Unigene Representative Sequence: NM_019850
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264051(uc010zmm.1 uc010fyg.1 uc002vts.2) ENST00000373552
    ENST00000424488 ENST00000489127 ENST00000461944 ENST00000416114 ENST00000458735
    ENST00000420650 ENST00000409079(uc002vtt.2) ENST00000414326 ENST00000539537

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    7 qRT-PCR Assays for microRNAs that regulate NGEF:
    hsa-miR-200c hsa-miR-429 hsa-miR-155 hsa-miR-200b hsa-miR-3145-3p hsa-miR-103a-2* hsa-miR-664
    SwitchGear 3'UTR luciferase reporter plasmidNGEF 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): NGEF (NM_001114090)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NGEF
    Primer
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      QuantiFast Probe-based Assays in human, mouse, rat NGEF
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    Additional mRNA sequence: 

    AJ238899.1 AK025225.1 AK293203.1 AK297390.1 AK298315.1 AK300953.1 BC031573.1 BC073962.1 

    9 DOTS entries:

    DT.100025352  DT.100740682  DT.120969018  DT.405172  DT.75181054  DT.120968982  DT.120969098  DT.111601 
    DT.40188493 

    1 AceView cDNA sequence:

    AK025225 

    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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    NGEF expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGGCCTGC
    NGEF Expression
    About this image


    NGEF expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Adrenal Gland (Endocrine System)
     
     Bone (Muscoskeletal System)
    NGEF Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NGEF Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.97316

    UniProtKB/Swiss-Prot: NGEF_HUMAN, Q8N5V2
    Tissue specificity: Highly expressed in brain specifically in caudate nucleus and to a lower extent in amygdala
    and hippocampus. Also detected in lung

        Pathway & Disease-focused RT2 Profiler PCR Array including NGEF: 
              Huntington's Disease in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NGEF

    (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 NGEF gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ngef1 , 5 neuronal guanine nucleotide exchange factor1, 5 83.62(n)1
    86.44(a)1
      1 (44.42 cM)5
    539721  NM_001111314.11  NP_001104784.11 
     874768345 
    chicken
    (Gallus gallus)
    Aves NGEF1 neuronal guanine nucleotide exchange factor 82.05(n)
    91.1(a)
      424744  NM_001010841.2  NP_001010841.1 
    lizard
    (Anolis carolinensis)
    Reptilia NGEF6
    neuronal guanine nucleotide exchange factor
    67(a)
    1 ↔ 1
    3(35708141-35753834)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ngef1 neuronal guanine nucleotide exchange factor 66.97(n)
    65.49(a)
      100487663  XM_004917795.1  XP_004917852.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5690901 ephexin-1-like 58.19(n)
    52.34(a)
      569090  XM_692454.3  XP_697546.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta BcDNA:GH036933   -- 33(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea K07D4.7a3   -- 37(a)
    (best of 2)
      II(4004982-4015768)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NGEF gene
    ARHGEF192  ARHGEF152  ARHGEF162  ARHGEF52  ARHGEF262  
    7 SIMAP similar genes for NGEF using alignment to 7 protein entries:     NGEF_HUMAN (see all proteins):
    ARHGEF16    ARHGEF19    LOC728377    ARHGEF5    ARHGEF15    DKFZp686N1969
    ARHGEF26

    Find genes that share paralogs with NGEF           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 NGEF (see all 3557)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs606522091,2
    C,F--225727566(+) CAGCCG/ATCCAC 1 -- us2k111Minor allele frequency- A:0.37NA WA CSA EA 373
    rs1910805651,2
    --225727623(+) GGGCAC/TTATAA 1 -- us2k10--------
    rs1807502721,2
    C--225727757(+) TGTCCG/ACTGAG 1 -- us2k11Minor allele frequency- A:0.00EU 593
    rs621939811,2
    C,F--225727803(+) AACCTA/GTCATC 1 -- us2k15Minor allele frequency- G:0.12NA WA 244
    rs1853694531,2
    --225727864(+) TTTCAC/GTCATT 1 -- us2k10--------
    rs621939821,2
    C--225727904(+) TGTAAG/ATGTTT 1 -- us2k13Minor allele frequency- A:0.11NA WA 240
    rs1472019271,2
    C--225727930(+) TGTGT-/AGCGG 
            
    GTGTG
    1 -- us2k10--------
    rs763233831,2
    C,F--225728012(+) GCAGGG/TCCAGC 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs739957931,2
    C,F--225728032(+) AGGTAG/AAGGCC 1 -- us2k12Minor allele frequency- A:0.06WA 120
    rs1476683621,2
    --225728114(+) GAACTC/TGTGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NGEF (233743396 - 233877982 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NGEF (see all 34):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2443215CNV Deletion19546169
    esv3194CNV Deletion18987735
    dgv676e201CNV Deletion23290073
    esv2721641CNV Deletion23290073
    esv2721633CNV Deletion23290073
    esv2721640CNV Deletion23290073
    esv2721646CNV Deletion23290073
    esv2721634CNV Deletion23290073
    esv1445847CNV Deletion17803354
    esv2721645CNV Deletion23290073

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NGEF
    DNA2.0 Custom Variant and Variant Library Synthesis for NGEF

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605991    OMIM disorders: --


    Find genes that share disorders with NGEF           About GenesLikeMe

    Genetic Association Database (GAD): NGEF
    Human Genome Epidemiology (HuGE) Navigator: NGEF (3 documents)

    Export disorders for NGEF 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 NGEF gene, integrated from 10 sources (see all 25):
    (articles sorted by number of sources associating them with NGEF)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus. (PubMed id 10777665)1, 2, 3 Rodrigues N.R.... Davies K.E. (Genomics 2000)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Mutation of ARHGAP9 in patients with coronary spastic angina. (PubMed id 19911011)1, 4 Takefuji M....Kaibuchi K. (J. Hum. Genet. 2010)
    4. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    5. 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)
    6. EphA receptors regulate growth cone dynamics through the novel guanine nucleotide exchange factor ephexin. (PubMed id 11336673)1, 9 Shamah S.M....Greenberg M.E. (Cell 2001)
    7. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. (PubMed id 23974872)1 Ripke S....Sullivan P.F. (Nat. Genet. 2013)
    8. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    9. Identification and analysis of intermediate size noncoding RNAs in the human fetal brain. (PubMed id 21789175)1 Yan D....Chen R. (PLoS ONE 2011)
    10. Complementary quantitative proteomics reveals that transcription factor AP-4 mediates E-box-dependent complex formation for transcriptional repression of HDM2. (PubMed id 19505873)1 Ku W.C....Chen Y.J. (amp 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 25791 HGNC: 7807 AceView: NGEF.1 Ensembl:ENSG00000066248 euGenes: HUgn25791
    ECgene: NGEF Kegg: 25791 H-InvDB: NGEF

    (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 NGEF Pharmacogenomics, SNPs, Pathways

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

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



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