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NPTN Gene

protein-coding   GIFtS: 57
GCID: GC15M073852

Neuroplastin

(Previous name: stromal cell derived factor receptor 1)
(Previous symbol: SDFR1)
  See NPTN-related disease
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
neuroplastin1 2     GP552 5
SDFR11 2 3 5     GP652 5
Stromal Cell Derived Factor Receptor 11 2     np552
Stromal Cell-Derived Receptor 12 3     np652
SDR-12 3     NP555
SDR12 3     NP655

External Ids:    HGNC: 178671   Entrez Gene: 270202   Ensembl: ENSG000001566427   OMIM: 6128205   UniProtKB: Q9Y6393   
ORGUL members:         

Export aliases for NPTN gene to outside databases

Previous GC identifers: GC15M071640 GC15M050683


(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 NPTN Gene:
This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be
involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple
transcript variants. (provided by RefSeq, May 2009)

GeneCards Summary for NPTN Gene:
NPTN (neuroplastin) is a protein-coding gene. Diseases associated with NPTN include allergic bronchopulmonary aspergillosis. GO annotations related to this gene include type 1 fibroblast growth factor receptor binding and cell adhesion molecule binding. An important paralog of this gene is BSG.

UniProtKB/Swiss-Prot: NPTN_HUMAN, Q9Y639
Function: Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at
hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating
the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity)

Gene Wiki entry for NPTN 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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Regulatory elements:
   Regulatory transcription factor binding sites in the NPTN gene promoter:
         AhR   SRF   AML1a   SRF (504 AA)   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Arnt   PPAR-gamma1   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPTN promoter sequence
   Search Chromatin IP Primers for NPTN

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


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

Entrez Gene cytogenetic band: 15q22   Ensembl cytogenetic band:  15q24.1   HGNC cytogenetic band: 15q24.1

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M073852:  view genomic region     (about GC identifiers)

Start:
73,852,344 bp from pter      End:
73,926,475 bp from pter
Size:
74,132 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: NPTN_HUMAN, Q9Y639 (See protein sequence)
Recommended Name: Neuroplastin precursor  
Size: 398 amino acids; 44387 Da
Sequence caution: Sequence=BAD93049.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: B2RAL7 B7Z4D3 B7ZLL2 Q17R52 Q59EJ9 Q6NVX7 Q9Y640
Alternative splicing: 5 isoforms:  Q9Y639-2   Q9Y639-1   Q9Y639-3   Q9Y639-4   Q9Y639-5   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NPTN: NX_Q9Y639

Explore proteomics data for NPTN at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn55, Asn81, Asn113, Asn168, Asn180, Asn201
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001154835.1  NP_001154836.1  NP_036560.1  NP_059429.1  

    ENSEMBL proteins: 
     ENSP00000290401   ENSP00000342958   ENSP00000457470   ENSP00000456349   ENSP00000457028  
     ENSP00000456033   ENSP00000455671   ENSP00000440593   ENSP00000444548   ENSP00000287226  

    NPTN Human Recombinant Protein Products:

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    OriGene MassSpec for NPTN
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    GenScript Custom Purified and Recombinant Proteins Services for NPTN
    Novus Biologicals NPTN Protein
    Novus Biologicals NPTN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NPTN

     
    Search eBioscience for Proteins for NPTN 

    NPTN Antibody Products:

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    Novus Biologicals NPTN Antibodies
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    ThermoFisher Antibodies for NPTN
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    NPTN Assay Products:

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    Cloud-Clone Corp. ELISAs for NPTN
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    Search eBioscience for ELISAs for NPTN 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    Selected InterPro protein domains (see all 6):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub
     IPR027112 Neuroplastin
     IPR013098 Ig_I-set

    Graphical View of Domain Structure for InterPro Entry Q9Y639

    ProtoNet protein and cluster: Q9Y639

    3 Blocks protein domains:
    IPB003598 Immunoglobulin C-2 type
    IPB009151 Basigin signature
    IPB013098 Immunoglobulin I-set


    UniProtKB/Swiss-Prot: NPTN_HUMAN, Q9Y639
    Domain: Some isoforms lack the first Ig-like domain which may confer homophilic adhesion activity. However, they
    can bind and activate FGFR1 (By similarity)
    Similarity: Contains 3 Ig-like (immunoglobulin-like) domains


    Find genes that share domains with NPTN           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: NPTN_HUMAN, Q9Y639
    Function: Probable homophilic and heterophilic cell adhesion molecule involved in long term potentiation at
    hippocampal excitatory synapses through activation of p38MAPK. May also regulate neurite outgrowth by activating
    the FGFR1 signaling pathway. May play a role in synaptic plasticity (By similarity)

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005105type 1 fibroblast growth factor receptor binding ISS--
    GO:0005515protein binding ----
    GO:0050839cell adhesion molecule binding ISS--
         
    Find genes that share ontologies with NPTN           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Nptn (no phenotypes)

    Find genes that share phenotypes with NPTN           About GenesLikeMe

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target NPTN:
    hsa-let-7b-5p (MIRT051931), hsa-mir-125b-5p (MIRT046088), hsa-mir-455-3p (MIRT037907), hsa-mir-1 (MIRT023641), hsa-mir-26b-5p (MIRT029137)

    Block miRNA regulation of human, mouse, rat NPTN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPTN (see all 53):
    hsa-miR-4291 hsa-miR-25 hsa-miR-938 hsa-miR-301a hsa-miR-3167 hsa-miR-629* hsa-miR-4325 hsa-miR-1183
    SwitchGear 3'UTR luciferase reporter plasmidNPTN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NPTN
    Predesigned siRNA for gene silencing in human, mouse, rat NPTN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NPTN

    Clone
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    OriGene clones in human, mouse for NPTN (see all 24)
    OriGene ORF clones in mouse, rat for NPTN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NPTN (NM_017455)
    Sino Biological Human cDNA Clone for NPTN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPTN

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for NPTN
    Browse ESI BIO Cell Lines and PureStem Progenitors for NPTN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPTN


    (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
    NPTN_HUMAN, Q9Y639: Cell membrane; Single-pass type I membrane protein (Potential). Note=Enriched at
    postsynaptic density (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum2
    extracellular2
    golgi apparatus1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0042734presynaptic membrane ISS--

    Find genes that share ontologies with NPTN           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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    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for NPTN (see all 7)
        Chemokine Signaling
    STAT3 Pathway
    Molecular Mechanisms of Cancer
    Antioxidant Action of Vitamin-C
    p38 Signaling



        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NPTN
    Interactions:

        Search GeneGlobe Interaction Network for NPTN

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5 Interacting proteins for NPTN (Q9Y6392, 3 ENSP000002904014) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SURF2Q155272, 3, ENSP000003610324MINT-8272410 I2D: score=2 STRING: ENSP00000361032
    DLG4P783523I2D: score=1 
    YWHABP319463I2D: score=1 
    NCAM1ENSP000003184724STRING: ENSP00000318472
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001934positive regulation of protein phosphorylation ISS--
    GO:0007156homophilic cell adhesion ISS--
    GO:0007204positive regulation of cytosolic calcium ion concentration ISS--
    GO:0010976positive regulation of neuron projection development ISS--
    GO:0045743positive regulation of fibroblast growth factor receptor signaling pathway ISS--

    Find genes that share ontologies with NPTN           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 NPTN



    (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 NPTN gene (4 alternative transcripts): 
    NM_001161363.1  NM_001161364.1  NM_012428.3  NM_017455.3  

    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000345330(uc002avs.3 uc010bjc.3 uc002avt.3 uc002avr.3 uc010ula.2)
    ENST00000351217 ENST00000565325 ENST00000562924 ENST00000561898 ENST00000563691
    ENST00000565282 ENST00000564551 ENST00000563753 ENST00000567198 ENST00000542234
    ENST00000545878 ENST00000287226
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NPTN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NPTN (see all 53):
    hsa-miR-4291 hsa-miR-25 hsa-miR-938 hsa-miR-301a hsa-miR-3167 hsa-miR-629* hsa-miR-4325 hsa-miR-1183
    SwitchGear 3'UTR luciferase reporter plasmidNPTN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NPTN
    Predesigned siRNA for gene silencing in human, mouse, rat NPTN
    Clone
    Products:
         
    OriGene clones in human, mouse for NPTN (see all 24)
    OriGene ORF clones in mouse, rat for NPTN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NPTN (NM_017455)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NPTN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NPTN
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NPTN
    OriGene qSTAR qPCR primer pairs in human, mouse for NPTN
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat NPTN
      QuantiTect SYBR Green Assays in human, mouse, rat NPTN
      QuantiFast Probe-based Assays in human, mouse, rat NPTN

    Selected AceView cDNA sequences (see all 345):

    CA443418 BU158684 AA772984 BU950599 AW517251 BF971452 CA431648 CB215924 
    AW952203 BU149854 AI801210 CR615564 CA393797 BF436039 AI459347 AI270730 
    AI523268 CR615149 BM982926 AW473018 AI524280 CR604231 AV729293 BU686426 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NPTN (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
    SP1:                          -                       -                                       
    SP2:                          -     -                 -                                       
    SP3:                          -     -                 -     -                                 
    SP4:                                                                                          
    SP5:                                                                                          


    ECgene alternative splicing isoforms for NPTN

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


    NPTN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 16) fully expand
     
     Brain (Nervous System)
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
     
     Testis (Reproductive System)
    NPTN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPTN Protein Expression

    UniProtKB/Swiss-Prot: NPTN_HUMAN, Q9Y639
    Tissue specificity: Isoform 1 is ubiquitously expressed. Isoform 2 is expressed in brain cortex and cerebellum (at
    protein level)

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    QuantiTect SYBR Green Assays in human, mouse, rat NPTN
    QuantiFast Probe-based Assays in human, mouse, rat NPTN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NPTN

    (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 NPTN gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nptn5 neuroplastin   --   9 (31.79 cM) 58582240 
    chicken
    (Gallus gallus)
    Aves NPTN1 neuroplastin 77.72(n)
    81.02(a)
      415316  XM_413703.4  XP_413703.3 
    lizard
    (Anolis carolinensis)
    Reptilia NPTN6
    neuroplastin
    74(a)
    1 ↔ 1
    GL343517.1(326666-362383)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3985012 similar to stromal cell derived factor receptor 1 76.18(n)    BC044289.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufj19g072 Transcribed sequence with moderate similarity to protein more 78.4(n)    57073053 
    fruit fly
    (Drosophila melanogaster)
    Insecta Bsg6
    Basigin
    14(a)
    1 → many
    2L(8083420-8116531)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NPTN gene
    BSG2  EMB2  
    3 SIMAP similar genes for NPTN using alignment to 6 protein entries:     NPTN_HUMAN (see all proteins):
    DKFZp566H1924    hEMMPRIN    BSG

    Find genes that share paralogs with NPTN           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 NPTN (see all 1246)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1417914261,2
    C--73852965(+) TATAA-/ATATATA 4 -- ut310--------
    rs1394985701,2
    --73853099(+) ATGGCA/GCATGC 4 -- ut310--------
    rs30880021,2
    F--73853157(-) TTTTCC/TTTTGT 4 -- ut311Minor allele frequency- T:0.08MN 184
    rs1808516221,2
    --73853159(+) AAAGGA/GAAAAA 4 -- ut310--------
    rs1857888441,2
    --73853224(+) AAGCAC/TTGTTT 4 -- ut310--------
    rs1174395861,2
    C,F--73853289(+) AGACAG/ATCATT 4 -- ut311Minor allele frequency- A:0.06EA 120
    rs71682621,2
    C,F,H--73853486(+) AGCACG/ACTCAG 4 -- int110Minor allele frequency- A:0.03NS EA NA WA 1196
    rs1902557221,2
    --73853572(+) TGTCTC/TGCCCC 4 -- int10--------
    rs1492544461,2
    --73853721(+) CATGTA/GACACA 4 -- int10--------
    rs1811528491,2
    --73853750(+) CACACC/TGGCTC 4 -- int10--------

    HapMap Linkage Disequilibrium report for NPTN (73852344 - 73926475 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NPTN:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2749873CNV Deletion23290073
    esv1006009CNV Loss20482838
    esv26087CNV Loss19812545
    nsv904344CNV Gain21882294

    Human Gene Mutation Database (HGMD): NPTN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NPTN
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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.)
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    OMIM gene information: 612820    OMIM disorders: --

    1 disease for NPTN:    
    About MalaCards
    allergic bronchopulmonary aspergillosis

    1 disease from the University of Copenhagen DISEASES database for NPTN:
    Polycythemia

    Find genes that share disorders with NPTN           About GenesLikeMe

    2 Novoseek inferred disease relationships for NPTN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    erythroleukemia 71.2 1 19581930 (1)
    tumors 0 6 18568347 (3)

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

    Export disorders for NPTN 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 NPTN gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with NPTN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association study of putative promoter polymorphisms in the neuroplastin gene and schizophrenia. (PubMed id 17123723)1, 4, 9 Saito A....Ito C. (Neurosci. Lett. 2007)
    2. The immunolocalization of the synaptic glycoprotein neuroplastin differs substantially between the human and the rodent brain. (PubMed id 17196182)1, 2, 9 Bernstein H.G.... Kreutz M.R. (Brain Res. 2007)
    3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    4. 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)
    5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (Genome Res. 1997)
    6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (Anal. Biochem. 1996)
    7. Synaptic membrane glycoproteins gp65 and gp55 are new members of the immunoglobulin superfamily. (PubMed id 8995369)1, 9 Langnaese K....Gundelfinger E.D. (J. Biol. Chem. 1997)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 2012)
    9. Proteomic identification of common SCF ubiquitin ligase FBXO6-interacting glycoproteins in three kinds of cells. (PubMed id 22268729)1 Liu B....Wang L.S. (J. Proteome Res. 2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)

    (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: 27020 HGNC: 17867 AceView: SDFR1 Ensembl:ENSG00000156642 euGenes: HUgn27020
    ECgene: NPTN H-InvDB: NPTN

    (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 NPTN Pharmacogenomics, SNPs, Pathways

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

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    Patent Information for NPTN gene:
    Search GeneIP for patents involving NPTN

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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