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GAP43 Gene

protein-coding   GIFtS: 63
GCID: GC03P115342

Growth Associated Protein 43

  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)
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Aliases
Growth Associated Protein 431 2     Neuron Growth-Associated Protein 431 2
Axonal Membrane Protein GAP-431 2 3     Protein F11 2
Neural Phosphoprotein B-501 2 3     Growth-Associated Protein 432 3
Calmodulin-Binding Protein P-571 2     B-502
Nerve Growth-Related Peptide GAP431 2     PP462
neuromodulin1 2     pp463

External Ids:    HGNC: 41401   Entrez Gene: 25962   Ensembl: ENSG000001720207   OMIM: 1620605   UniProtKB: P176773   

Export aliases for GAP43 gene to outside databases

Previous GC identifers: GC03P112171 GC03P114924 GC03P116623 GC03P116663 GC03P116825 GC03P112715


(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 GAP43 Gene:
The protein encoded by this gene has been termed a 'growth' or 'plasticity' protein because it is expressed at
high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a
crucial component of an effective regenerative response in the nervous system. Alternatively spliced transcript
variants encoding distinct isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for GAP43 Gene:
GAP43 (growth associated protein 43) is a protein-coding gene. Diseases associated with GAP43 include acute cervicitis, and myositis fibrosa. GO annotations related to this gene include calmodulin binding.

UniProtKB/Swiss-Prot: NEUM_HUMAN, P17677
Function: This protein is associated with nerve growth. It is a major component of the motile "growth cones" that
form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction

Gene Wiki entry for GAP43 (Gap-43 protein) 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:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the GAP43 gene promoter:
         AML1a   MAZR   MyoD   CUTL1   LCR-F1   C/EBPalpha   CREB   SRY   deltaCREB   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGAP43 promoter sequence
   Search Chromatin IP Primers for GAP43

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GAP43


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

Entrez Gene cytogenetic band: 3q13.31   Ensembl cytogenetic band:  3q13.31   HGNC cytogenetic band: 3q13.31

GAP43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GAP43 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P115342:  view genomic region     (about GC identifiers)

Start:
115,342,151 bp from pter      End:
115,440,337 bp from pter
Size:
98,187 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, 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., 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: NEUM_HUMAN, P17677 (See protein sequence)
Recommended Name: Neuromodulin  
Size: 238 amino acids; 24803 Da
Subunit: Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN (By
similarity). Binds calmodulin with a greater affinity in the absence of Ca(2+) than in its presence (By
similarity)
Secondary accessions: A8K0Y4
Alternative splicing: 2 isoforms:  P17677-1   P17677-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GAP43: NX_P17677

Explore proteomics data for GAP43 at MOPED

Post-translational modifications: 

  • Phosphorylated at Ser-41 by PHK. Phosphorylation of this protein by a protein kinase C is specifically correlated
    with certain forms of synaptic plasticity1
  • Palmitoylation by ARF6 is essential for plasma membrane association and axonal and dendritic filopodia induction.
    Deacylated by LYPLA21
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See GAP43 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001123536.1  NP_002036.1  

    ENSEMBL proteins: 
     ENSP00000305010   ENSP00000377372  

    GAP43 Human Recombinant Protein Products:

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    GAP43 Antibody Products:

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    GAP43 Assay Products:

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    Cloud-Clone Corp. ELISAs for GAP43
    Cloud-Clone Corp. CLIAs for GAP43


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR017454 Neuromodulin_C
     IPR001422 Neuromodulin
     IPR000048 IQ_motif_EF-hand-BS
     IPR018947 Neuromodulin_gap-junction_N
     IPR018243 Neuromodulin_palmitoyl/P_site

    Graphical View of Domain Structure for InterPro Entry P17677

    ProtoNet protein and cluster: P17677

    2 Blocks protein domains:
    IPB000048 IQ calmodulin-binding region
    IPB001422 Neuromodulin (GAP-43)


    UniProtKB/Swiss-Prot: NEUM_HUMAN, P17677
    Similarity: Belongs to the neuromodulin family
    Similarity: Contains 1 IQ domain


    GAP43 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NEUM_HUMAN, P17677
    Function: This protein is associated with nerve growth. It is a major component of the motile "growth cones" that
    form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction

         Genatlas biochemistry entry for GAP43:
    growth associated protein 43,expressed in elongating terminals of neurites,located in granules diffusely dispersed
    throughout the anterior horn neuropil and at the surface of horn cells,overexpressed in amyotropic lateral
    sclerosis,component of neurons regenerative response

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI9139733
    GO:0005516calmodulin binding IEA--
         
    GAP43 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GAP43:
     Decreased telomerase activity 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gap43):
     cellular  growth/size/body  hematopoietic system  immune system  mortality/aging 
     nervous system  vision/eye 

    GAP43 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for GAP43: Gap43tm1Mcf Gap43tm1Kmr

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GAP43
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GAP43

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GAP43
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GAP43

    miRNA
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    Block miRNA regulation of human, mouse, rat GAP43 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GAP43 (see all 36):
    hsa-miR-21* hsa-miR-25 hsa-miR-301a hsa-miR-890 hsa-miR-4330 hsa-miR-23a hsa-miR-92b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidGAP43 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GAP43
    Predesigned siRNA for gene silencing in human, mouse, rat GAP43

    Gene Editing
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    Sino Biological Human cDNA Clone for GAP43
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GAP43


    (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
    NEUM_HUMAN, P17677: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, growth cone
    membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse. Cell projection, filopodium
    membrane; Peripheral membrane protein. Note=Cytoplasmic surface of growth cone and synaptic plasma membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    mitochondrion3
    cytoskeleton2
    cytosol2
    nucleus2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IDA--
    GO:0030054cell junction IEA--
    GO:0030424axon IEA--
    GO:0031527filopodium membrane IDA14978216

    GAP43 for ontologies           About GeneDecksing


    (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 GAP43 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    2Spinal Cord Injury
    Spinal Cord Injury
    3Neuroscience
    Neuroscience
    4N-cadherin signaling events
    N-cadherin signaling events
    5Glial Cell Differentiation
    Glial Cell Differentiation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for GAP43
        Neuroscience
    Cytoskeletal Signaling

    3 BioSystems Pathways for GAP43
        Spinal Cord Injury
    Glial Cell Differentiation
    N-cadherin signaling events




    GAP43 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GAP43: 
              Alzheimer's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GAP43

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for GAP43 (P176771, 3 ENSP000003773724) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCDQ056551, 3, ENSP000003316024EBI-1267511,EBI-704279 I2D: score=1 STRING: ENSP00000331602
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    GRIN1Q055863, ENSP000003606164I2D: score=1 STRING: ENSP00000360616
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007205protein kinase C-activating G-protein coupled receptor signaling pathway TAS3272162
    GO:0007399nervous system development ----
    GO:0007411axon guidance ----
    GO:0009611response to wounding TAS3272162
    GO:0010001glial cell differentiation IEA--

    GAP43 for ontologies           About GeneDecksing



    (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 GAP43 (NEUM)

    Selected Novoseek inferred chemical compound relationships for GAP43 gene (see all 66)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dbc-amp 39.6 12 1646299 (2), 1319472 (2), 8393086 (1), 11972796 (1) (see all 6)
    palmitate 38.3 3 17110192 (1), 18654638 (1)
    tyrosine 31.9 25 8741767 (1), 7743648 (1), 17212696 (1), 1348695 (1) (see all 20)
    retinoic acid 31.2 8 11120388 (1), 10640639 (1), 9298234 (1), 12820386 (1) (see all 7)
    calcium 29.6 44 11274743 (3), 7896819 (3), 7514037 (2), 9139733 (2) (see all 20)
    12-o-tetradecanoylphorbol 13-acetate 28.7 13 10209306 (4), 8393086 (1), 1348695 (1), 1319472 (1) (see all 6)
    acth 1-24 25.8 11 8445991 (4), 2178253 (2)
    bryostatin 1 24.4 1 8482723 (1)
    adenylate 19.6 5 12034726 (4), 7509864 (1)
    iodoacetamide 15.7 1 10446390 (1)



    GAP43 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GAP43 gene (2 alternative transcripts): 
    NM_001130064.1  NM_002045.3  

    Unigene Cluster for GAP43:

    Growth associated protein 43
    Hs.134974  [show with all ESTs]
    Unigene Representative Sequence: AK091466
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000305124(uc003ebq.2) ENST00000393780(uc003ebr.2)
    miRNA
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    hsa-miR-21* hsa-miR-25 hsa-miR-301a hsa-miR-890 hsa-miR-4330 hsa-miR-23a hsa-miR-92b hsa-miR-130b
    SwitchGear 3'UTR luciferase reporter plasmidGAP43 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat GAP43

    Additional mRNA sequence: 

    AF279774.1 AK091466.1 AK123311.1 AK289699.1 AK290100.1 AK313658.1 BC007936.2 BT019771.1 
    BT019810.1 BX648458.1 M25667.1 

    10 DOTS entries:

    DT.416583  DT.92039380  DT.101981587  DT.100762749  DT.99937146  DT.100788962  DT.120844192  DT.91751612 
    DT.92067603  DT.100806792 

    Selected AceView cDNA sequences (see all 225):

    CR607941 AA339583 CR612258 BP348536 AI359319 BQ068112 BG202954 AA338509 
    BM663887 BF439700 AA339346 BI820435 BX374567 AI419299 NM_002045 BQ024440 
    BQ898873 CK903641 BF432407 AA323511 BM683029 M25667 AA171547 AV729219 

    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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    GAP43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAGTAATCA
    GAP43 Expression
    About this image


    GAP43 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Epithalamus
             Neural progenitor cells
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cushion Mesenchymal Cells Endocardium
             Outflow Tract
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             Non-myelinating Schwann Cells Peripheral Nerve Domain
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
    GAP43 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GAP43 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.134974
        Pathway & Disease-focused RT2 Profiler PCR Array including GAP43: 
              Alzheimer'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 GAP43

    (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 chordates.

    Orthologs for GAP43 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gap431 , 5 growth associated protein 431, 5 81.86(n)1
    74.78(a)1
      16 (28.37 cM)5
    144321  NM_008083.21  NP_032109.11 
     422484425 
    chicken
    (Gallus gallus)
    Aves GAP431 growth associated protein 43 77.49(n)
    67.98(a)
      427955  XM_425527.4  XP_425527.3 
    lizard
    (Anolis carolinensis)
    Reptilia GAP436
    growth associated protein 43
    61(a)
    1 ↔ 1
    3(177523061-177605920)
    African clawed frog
    (Xenopus laevis)
    Amphibia gap43-prov2 growth associated protein 43 78.53(n)    BC042240.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gap432 growth associated protein 43 77.49(n)   30608  L27645.1 


    ENSEMBL Gene Tree for GAP43 (if available)
    TreeFam Gene Tree for GAP43 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GAP43 gene
    1 SIMAP similar gene for GAP43 using alignment to 2 protein entries:     NEUM_HUMAN (see all proteins):
    NRGN

    GAP43 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), 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 GAP43 (see all 2127)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1441136411,2
    --115340163(+) TCACAC/TATTTA 2 -- us2k10--------
    rs1464900191,2
    --115340169(+) ATTTAC/GTCACA 2 -- us2k10--------
    rs22180541,2
    C,F,O,H--115340177(+) ACAAAG/TTTCAT 2 -- us2k134Minor allele frequency- T:0.29EA NA NS WA CSA 3410
    rs1836370571,2
    --115340247(+) CCAAGA/GTTCCT 2 -- us2k10--------
    rs14383581,2
    C,F,O,H--115340373(+) TCAATG/TGAGTT 2 -- us2k123Minor allele frequency- N:0.00MN NS EA NA 2618
    rs1895246481,2
    --115340570(+) TCACGG/TAAGGC 2 -- us2k10--------
    rs23995261,2
    C,F,H--115340577(+) AGGCTG/CTTCTG 2 -- us2k19Minor allele frequency- C:0.47NS EA NA WA 782
    rs1115753461,2
    C--115340590(+) GCGGCTGGGCTTT
    CAAAAT
    /-
    CTGGG
    2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs61480261,2
    C--115340596(+) GGGCT-/TTCAAA
    ATTGGGCT
    CCTTG
    2 -- us2k10--------
    rs1422216221,2
    --115340665(+) AAACTA/GGGAAG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for GAP43 (115342151 - 115440337 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for GAP43:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2672570CNV Deletion23128226
    esv274109CNV Insertion20981092
    esv1060470CNV Insertion17803354
    esv270312CNV Insertion20981092
    dgv5234n71CNV Gain21882294
    nsv877356CNV Gain21882294

    Human Gene Mutation Database (HGMD): GAP43
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GAP43
    DNA2.0 Custom Variant and Variant Library Synthesis for GAP43

    (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: 162060    OMIM disorders: --

    Selected diseases for GAP43 (see all 51):    
    About MalaCards
    acute cervicitis    myositis fibrosa    appendicitis    status epilepticus
    cystitis    retinal detachment    memory impairment    frontotemporal dementia
    allergic contact dermatitis    spinal cord injury    neuronitis    contact dermatitis
    tetanus    cutaneous malignant melanoma    dementia    toxic encephalopathy
    brain ischemia    neuroma    cholera    temporal lobe epilepsy


    GAP43 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for GAP43 gene (see all 40)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    senile plaques 44.8 6 9011750 (1), 8402154 (1), 10837922 (1), 1283445 (1) (see all 5)
    alzheimers disease 42.3 13 9011750 (3), 11215757 (2), 11351137 (1), 7573369 (1) (see all 7)
    neurodegeneration 36.9 2 9973230 (1), 10666665 (1)
    neurofibrillary tangles 32.2 8 1283445 (4), 9011750 (1)
    amyotrophic lateral sclerosis 29.1 2 9973230 (1), 1387517 (1)
    pheochromocytoma 24.3 5 8928618 (1), 1839071 (1), 9774477 (1), 2139463 (1) (see all 5)
    carcinoma embryonal 23.9 2 10640639 (2)
    atrophy 20.5 12 9391013 (3), 17495772 (2), 15296835 (2), 11569536 (1) (see all 7)
    astrocytosis 19.6 1 11569536 (1)
    schizophrenia 17.9 30 15694236 (7), 11208668 (4), 8943081 (4), 17095155 (3) (see all 11)

    Genetic Association Database (GAD): GAP43
    Human Genome Epidemiology (HuGE) Navigator: GAP43 (1 document)

    Export disorders for GAP43 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 GAP43 gene, integrated from 10 sources (see all 412):
    (articles sorted by number of sources associating them with GAP43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the human gene for the neural phosphoprotein B-50 (GAP- 43). (PubMed id 8231732)1, 2, 3, 9 Nielander H.B....Schotman P. (Brain Res. Mol. Brain Res. 1993)
    2. Human GAP-43: its deduced amino acid sequence and chromosomal localization in mouse and human. (PubMed id 3272162)1, 2, 3 Kosik K.S.... Neve R. (Neuron 1988)
    3. 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)
    4. Acyl-protein thioesterase 2 catalyzes the deacylation of peripheral membrane-associated GAP-43. (PubMed id 21152083)1, 2 Tomatis V.M.... Daniotti J.L. (PLoS ONE 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Regulation of dendritic branching and filopodia formation in hippocampal neurons by specific acylated protein motifs. (PubMed id 14978216)1, 2 Gauthier-Campbell C.... El-Husseini A. (Mol. Biol. Cell 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. Characterization of single-nucleotide polymorphisms in coding regions of human genes. (PubMed id 10391209)1, 2 Cargill M....Lander E.S. (Nat. Genet. 1999)
    9. Cloning of human GAP-43: growth association and ischemic resurgence. (PubMed id 3272163)1, 2 Ng S.-C.... Fishman M.C. (Neuron 1988)
    10. Immunocytochemical detection of the growth-associated protein B-50 by newly characterized monoclonal antibodies in human brain and muscle. (PubMed id 1385623)1, 9 Mercken M....Oestreicher A.B. (J. Neurobiol. 1992)

    (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: 2596 HGNC: 4140 AceView: GAP43 Ensembl:ENSG00000172020 euGenes: HUgn2596
    ECgene: GAP43 H-InvDB: GAP43

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for GAP43 Pharmacogenomics, SNPs, Pathways
    NIEHS-SNPshttp://egp.gs.washington.edu/data/gap43/
    Wikipedia http://en.wikipedia.org/wiki/Gap-43_protein

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GAP43 gene:
    Search GeneIP for patents involving GAP43

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



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