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NPTXR Gene

protein-coding   GIFtS: 56
GCID: GC22M039214

Neuronal Pentraxin Receptor

  Search for NPTXR
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
Neuronal Pentraxin Receptor1 2
NPR2

External Ids:    HGNC: 79541   Entrez Gene: 234672   Ensembl: ENSG000002218907   OMIM: 6094745   UniProtKB: O955023   

Export aliases for NPTXR gene to outside databases

Previous GC identifers: GC22M035828 GC22M037457 GC22M037538 GC22M022180


(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 NPTXR Gene:
This gene encodes a protein similar to the rat neuronal pentraxin receptor. The rat pentraxin receptor is an
integral membrane protein that is thought to mediate neuronal uptake of the snake venom toxin, taipoxin, and its
transport into the synapses. Studies in rat indicate that translation of this mRNA initiates at a non-AUG (CUG)
codon. This may also be true for mouse and human, based on strong sequence conservation amongst these species.
(provided by RefSeq, Jul 2008)

GeneCards Summary for NPTXR Gene:
NPTXR (neuronal pentraxin receptor) is a protein-coding gene. An important paralog of this gene is NPTX2.

UniProtKB/Swiss-Prot: NPTXR_HUMAN, O95502
Function: May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the
synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses (By similarity)

Gene Wiki entry for NPTXR 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 at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the NPTXR gene promoter:
         HOXA9   HOXA9B   AML1a   Pax-5   Lmo2   AP-4   Evi-1   Meis-1b   HOXA5   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNPTXR promoter sequence
   Search Chromatin IP Primers for NPTXR

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


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.1   HGNC cytogenetic band: 22q13.1

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M039214:  view genomic region     (about GC identifiers)

Start:
39,214,456 bp from pter      End:
39,240,017 bp from pter
Size:
25,562 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: NPTXR_HUMAN, O95502 (See protein sequence)
Recommended Name: Neuronal pentraxin receptor  
Size: 500 amino acids; 52846 Da
Cofactor: Binds 2 calcium ions per subunit (By similarity)
Subunit: Heteropentamer with NPTX1 and/or NPTX2. Also binds taipoxin-associated calcium-binding protein 49
(TCBP49/RCN2). Interacts with KLHL2 (By similarity)
Sequence caution: Sequence=CAA15430.3; Type=Erroneous gene model prediction;

Explore the universe of human proteins at neXtProt for NPTXR: NX_O95502

Explore proteomics data for NPTXR at MOPED

Post-translational modifications: 

  • Ubiquitinated by a cullin-RING-based BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex containing KLHL2 (By
    similarity)1
  • Glycosylation2 at Asn42, Asn216, Asn463

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

    REFSEQ proteins: NP_055108.2  
    ENSEMBL proteins: 
     ENSP00000327545  

    NPTXR Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for NPTXR 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR013320 ConA-like_subgrp
     IPR001759 Pentaxin
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry O95502

    ProtoNet protein and cluster: O95502

    1 Blocks protein domain: IPB001759 Pentaxin

    UniProtKB/Swiss-Prot: NPTXR_HUMAN, O95502
    Similarity: Contains 1 pentaxin domain


    Find genes that share domains with NPTXR           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: NPTXR_HUMAN, O95502
    Function: May be involved in mediating uptake of synaptic material during synapse remodeling or in mediating the
    synaptic clustering of AMPA glutamate receptors at a subset of excitatory synapses (By similarity)

         Genatlas biochemistry entry for NPTXR:
    neuronal pentraxin receptor,interacting with NPTX1,NPTX2 and taipoxin-associated calcium binding protein
    49,putatively involved in the clearance of synaptic debris

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with NPTXR           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Nptxr):
     nervous system 

    Find genes that share phenotypes with NPTXR           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nptxrtm1Mspn for NPTXR

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NPTXR
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    Selected qRT-PCR Assays for microRNAs that regulate NPTXR (see all 46):
    hsa-miR-128 hsa-miR-30d hsa-miR-4314 hsa-miR-30a hsa-miR-149 hsa-miR-330-3p hsa-miR-761 hsa-miR-3144-5p
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    (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
    NPTXR_HUMAN, O95502: Membrane; Single-pass type II membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum2
    extracellular2
    cytosol1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

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

    Find genes that share ontologies with NPTXR           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 NPTXR About    
    See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Oxidative Stress Induced Senescence0.64
    Cellular responses to stress0.81



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

        Search GeneGlobe Interaction Network for NPTXR

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

    Selected Interacting proteins for NPTXR (O955023 ENSP000003275454) via UniProtKB, MINT, STRING, and/or I2D (see all 17)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NPTX2P479723, ENSP000002656344I2D: score=1 STRING: ENSP00000265634
    NPTX1Q158183, ENSP000003075494I2D: score=1 STRING: ENSP00000307549
    GBASO753233I2D: score=1 
    WIPI2Q9Y4P83I2D: score=1 
    KLHL2ENSP000002267254STRING: ENSP00000226725
    About this table

    (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 NPTXR

    1 HMDB Compound for NPTXR    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for NPTXR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cgmp 45.3 1 10446136 (1)
    nadph 20.5 3 15089095 (2), 15547247 (1)



    Find genes that share compounds with NPTXR           About GenesLikeMe



    (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 NPTXR gene (2 alternative transcripts): 
    NM_014293.3  NM_058178.1  

    Unigene Cluster for NPTXR:

    Neuronal pentraxin receptor
    Hs.91622  [show with all ESTs]
    Unigene Representative Sequence: NM_014293
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000333039(uc003awk.3)
    miRNA
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    hsa-miR-128 hsa-miR-30d hsa-miR-4314 hsa-miR-30a hsa-miR-149 hsa-miR-330-3p hsa-miR-761 hsa-miR-3144-5p
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      QuantiFast Probe-based Assays in human, mouse, rat NPTXR

    Additional mRNA sequence: 

    AF052163.1 AL161974.1 AL162057.1 BC043606.1 

    6 DOTS entries:

    DT.100781229  DT.448345  DT.100781231  DT.120650937  DT.433700  DT.91909871 

    Selected AceView cDNA sequences (see all 212):

    BQ230962 NM_014293 NM_058178 CD635634 AF052163 AI014314 BE048263 BU856929 
    AA372919 BM664678 BX090839 CB152312 BM722090 AA322700 D51955 BU632940 
    BC043606 T30973 CD635635 H41734 AW963649 T33852 R88792 AL118608 

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


    NPTXR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Brain (Nervous System)
             Amygdala
     
     Testis (Reproductive System)
    NPTXR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NPTXR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.91622
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    (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 NPTXR gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nptxr1 , 5 neuronal pentraxin receptor1, 5 88.03(n)1
    90.47(a)1
      15 (37.85 cM)5
    733401  NM_030689.41  NP_109614.21 
     797863535 
    chicken
    (Gallus gallus)
    Aves NPTXR6
    neuronal pentraxin receptor
    36(a)
    1 ↔ 1
    1(50627427-50649375)
    lizard
    (Anolis carolinensis)
    Reptilia NPTXR6
    neuronal pentraxin receptor
    33(a)
    1 ↔ 1
    5(24307274-24385885)
    zebrafish
    (Danio rerio)
    Actinopterygii nptxrb1 neuronal pentraxin receptor b 55.26(n)
    48.36(a)
      100005257  NM_001044314.1  NP_001037779.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NPTXR gene
    NPTX22  APCS2  CRP2  PTX42  NPTX12  PTX32  
    2 SIMAP similar genes for NPTXR using alignment to 1 protein entry:     NPTXR_HUMAN:
    NPTX2    NPTX1

    Find genes that share paralogs with NPTXR           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 NPTXR (see all 974)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452318761,2
    Cuntested139222748(+) GCTGAG/AGACCC 2 /S syn11Minor allele frequency- A:0.00NA 4546
    rs1169421611,2
    C,F--22206071(+) GTCCAA/GGGTCA 1 -- int11Minor allele frequency- G:0.07EA 120
    rs126284731,2
    C,H--22206303(+) TCATTA/GCAGAA 1 -- int12Minor allele frequency- G:0.11CSA EA 122
    rs126284971,2
    C,A,H--22206306(+) TTACAG/AAATCT 1 -- int13Minor allele frequency- A:0.07CSA WA EA 240
    rs1812311801,2
    --22206349(+) TCCTCC/TGAATC 1 -- int10--------
    rs1870949341,2
    --22206387(+) AGAGAA/TACCCC 1 -- int10--------
    rs119133541,2
    C,F,H--22206413(+) TCTGCC/TTTCGT 1 -- int11Minor allele frequency- T:0.03WA 118
    rs1461090221,2
    --22206589(+) TAAAAA/GCAATC 1 -- int10--------
    rs1906299101,2
    C--22206639(+) ATGAGA/GTCTTT 1 -- int10--------
    rs1835436111,2
    --22206657(+) AATACA/GGATTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for NPTXR (39214456 - 39240017 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for NPTXR:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724234CNV Deletion23290073
    esv2724233CNV Deletion23290073
    nsv915071CNV Loss21882294
    nsv915070CNV Loss21882294
    nsv915069CNV Loss21882294
    nsv471199CNV Loss18288195
    nsv915068CNV Loss21882294
    nsv915067CNV Loss21882294
    dgv769n67CNV Gain20364138

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    (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: 609474    OMIM disorders: --


    Find genes that share disorders with NPTXR           About GenesLikeMe

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

    Export disorders for NPTXR 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 NPTXR gene, integrated from 10 sources (see all 34):
    (articles sorted by number of sources associating them with NPTXR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Regulation of neuronal type genes in congestive heart failure rats. (PubMed id 16497176)1, 3 Andersson K.B....Christensen G. (Acta Physiol (Oxf) 2006)
    3. The DNA sequence of human chromosome 22. (PubMed id 10591208)1, 2 Dunham I.... Wright H. (Nature 1999)
    4. Neuronal pentraxin receptor, a novel putative integral membrane pentraxin that interacts with neuronal pentraxin 1 and 2 and taipoxin-associated calcium-binding protein 49. (PubMed id 9261167)1, 9 Dodds D.C....Perin M.S. (J. Biol. Chem. 1997)
    5. Neuronal pentraxin receptor in cerebrospinal fluid as a potential biomarker for neurodegenerative diseases. (PubMed id 19368810)1, 9 Yin G.N....Suk K. (Brain Res. 2009)
    6. Specific sensitivity of small cell lung cancer cell lines to the snake venom toxin taipoxin. (PubMed id 16115696)1, 9 Poulsen T.T....Poulsen H.S. (Lung Cancer 2005)
    7. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (amp 2008)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Biochemical interactions of the neuronal pentraxins. Neuronal pentraxin (NP) receptor binds to taipoxin and taipoxin-associated calcium-binding protein 49 via NP1 and NP2. (PubMed id 10748068)1 Kirkpatrick L.L.... Perin M.S. (J. Biol. Chem. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23467 HGNC: 7954 AceView: NPTXR Ensembl:ENSG00000221890 euGenes: HUgn23467
    ECgene: NPTXR H-InvDB: NPTXR

    (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 NPTXR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NPTXR gene:
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    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
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