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NBPF15 Gene

protein-coding   GIFtS: 45
GCID: GC01P148555

Neuroblastoma Breakpoint Family, Member 15

(Previous names: neuroblastoma breakpoint family, member 16)
(Previous symbol: NBPF16)
  See NBPF15-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
Neuroblastoma Breakpoint Family, Member 151 2     AG32
NBPF161 2     Neuroblastoma Breakpoint Family Member 152
Neuroblastoma Breakpoint Family, Member 161 2     Neuroblastoma Breakpoint Family Member 162
AB142     

External Ids:    HGNC: 287911   Entrez Gene: 2845652   Ensembl: ENSG000002434527   OMIM: 610414,6140055   UniProtKB: Q8N6603   

Export aliases for NBPF15 gene to outside databases

Previous GC identifers: GC01P145341 GC01P146827 GC01P119791


(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 NBPF15 Gene:
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently
duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has
experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates
in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains.
Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have
been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly,
autism, schizophrenia, mental retardation, congenital heart disease, neuroblastoma, and congenital kidney and
urinary tract anomalies. Altered expression of some gene family members is associated with several types of
cancer. This gene family contains numerous pseudogenes. (provided by RefSeq, May 2013)

GeneCards Summary for NBPF15 Gene:
NBPF15 (neuroblastoma breakpoint family, member 15) is a protein-coding gene. Diseases associated with NBPF15 include neuroblastoma, and schizophrenia. An important paralog of this gene is NBPF6.




(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_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NBPF15 gene promoter:
         GATA-3   Tal-1beta   ITF-2   Evi-1   GATA-2   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNBPF15 promoter sequence
   Search Chromatin IP Primers for NBPF15

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NBPF15


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

Entrez Gene cytogenetic band: 1q21.2   Ensembl cytogenetic band:  1q21.2   HGNC cytogenetic band: 1q21.1

NBPF15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF15 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P148555:  view genomic region     (about GC identifiers)

Start:
148,555,979 bp from pter      End:
148,596,267 bp from pter
Size:
40,289 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, 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: NBPFF_HUMAN, Q8N660 (See protein sequence)
Recommended Name: Neuroblastoma breakpoint family member 15  
Size: 670 amino acids; 77563 Da
Miscellaneous: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the
chromosome 1
Secondary accessions: Q3BBV9 Q8IX77

Explore the universe of human proteins at neXtProt for NBPF15: NX_Q8N660

Explore proteomics data for NBPF15 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NBPF15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001164226.1  NP_775909.2  

    ENSEMBL proteins: 
     ENSP00000358188   ENSP00000416864  

    NBPF15 Human Recombinant Protein Products:

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    Search eBioscience for ELISAs for NBPF15 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    NBPF: neuroblastoma breakpoint family

    1 InterPro protein domain:
     IPR010630 NBPF_dom

    Graphical View of Domain Structure for InterPro Entry Q8N660

    ProtoNet protein and cluster: Q8N660

    UniProtKB/Swiss-Prot: NBPFF_HUMAN, Q8N660
    Similarity: Belongs to the NBPF family
    Similarity: Contains 6 NBPF domains


    Find genes that share domains with NBPF15           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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    Phenotypes:
         2 GenomeRNAi human phenotypes for NBPF15:
     Decreased OCT4 protein express  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NBPF15
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NBPF15

    miRNA
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    miRTarBase miRNAs that target NBPF15:
    hsa-mir-93-5p (MIRT048824), hsa-mir-615-3p (MIRT039916), hsa-mir-1260b (MIRT052721), hsa-let-7b-5p (MIRT051996), hsa-mir-766-3p (MIRT039015), hsa-mir-769-5p (MIRT039174)

    Block miRNA regulation of human, mouse, rat NBPF15 using miScript Target Protectors
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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
    NBPFF_HUMAN, Q8N660: Cytoplasm (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus3
    cytosol2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with NBPF15           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NBPF15
    Interactions:

        Search GeneGlobe Interaction Network for NBPF15

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for NBPF15 (ENSP000003581884) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    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 NBPF15 (NBPFF)



    (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 NBPF15 gene (3 alternative transcripts): 
    NM_001170755.2  NM_173638.4  NM_001102663.1  

    Unigene Cluster for NBPF15:

    Neuroblastoma breakpoint family, member 15
    Hs.656782  [show with all ESTs]
    Unigene Representative Sequence: NM_001170755
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000464336 ENST00000478419 ENST00000488031 ENST00000492711 ENST00000369187
    ENST00000442702(uc001esb.2 uc001esc.2)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat NBPF15
      QuantiFast Probe-based Assays in human, mouse, rat NBPF15

    Additional mRNA sequence: 

    AF379630.1 AK097180.1 AK290142.1 AK290302.1 AK299360.1 AY894566.1 BC023087.1 XR_159175.1 
    XR_171213.1 

    Selected DOTS entries (see all 42):

    DT.100058829  DT.100059221  DT.87078282  DT.92411509  DT.100800519  DT.95247186  DT.87017630  DT.99963054 
    DT.305473  DT.100861446  DT.95230911  DT.100646648  DT.121460520  DT.121460586  DT.95301339  DT.100807097 
    DT.121460210  DT.121460287  DT.121460342  DT.121460601  DT.121644796  DT.95296607  DT.97759819  DT.100059352 

    Selected AceView cDNA sequences (see all 149):

    BQ215282 BU734684 BX280725 AW261884 BM756052 AA367582 AA367583 W92875 
    AA777093 AI654244 CA446902 N69326 BU632535 AV721974 AI685954 AI003102 
    BV194613 CA941244 BE841124 AI589346 AV718334 BM796852 AL531145 BV200708 

    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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    NBPF15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTAAATTCA
    NBPF15 Expression
    About this image

    NBPF15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NBPF15 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656782

    UniProtKB/Swiss-Prot: NBPFF_HUMAN, Q8N660
    Tissue specificity: Ubiquitously expressed with a higher expression observed in breast and liver. Also expressed
    in neuroblastoma cell line

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBPF15

    (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 mammals.

    Orthologs for NBPF15 gene from Selected species (see all 3)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    dog
    (Canis familiaris)
    Mammalia --
    Uncharacterized protein
    35(a)
    1 → many
    17(57512543-57515264)


    ENSEMBL Gene Tree for NBPF15 (if available)
    TreeFam Gene Tree for NBPF15 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NBPF15 gene
    NBPF91 2  NBPF81 2  NBPF111 2  NBPF101 2  NBPF141 2  NBPF19  NBPF11 2  NBPF26  
    LOC102724250  NBPF121 2  NBPF201 2  NBPF62  NBPF32  ENSG000002038362  NBPF42  ENSG000002038272  
    17 SIMAP similar genes for NBPF15 using alignment to 1 protein entry:     NBPFF_HUMAN:
    NBPF16    NBPF21    AL592307.2    NBPF14    NBPF20    NBPF8
    NBPF1    NBPF10    NBPF11    NBPF24    NBPF12    NBPF9
    NBPF7    NBPF5P    NBPF3    NBPF4    NBPF6

    Find genes that share paralogs with NBPF15           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 NBPF15 (see all 517)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1432172351,2
    --148556253(+) GGCGCC/TGCGCC 1 -- us2k10--------
    rs664863241,2
    C--148556367(+) GGTTG-/GGGAGG 1 -- us2k10--------
    rs1448614071,2
    --148556399(+) GGGCTG/TAAGTT 1 -- us2k10--------
    rs49502361,2
    C,F--148556414(-) GAATCG/CAACGC 1 -- us2k14Minor allele frequency- C:0.50NA WA 12
    rs618120491,2
    C--148556423(+) TCCTCG/ACTTGC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1887187991,2
    --148556446(+) CAGCCA/CTCCTT 1 -- us2k10--------
    rs343479511,2
    C--148556449(+) CCTCC-/ATCT  
            
    TTGGG
    1 -- us2k10--------
    rs49502351,2
    C,A,H--148556473(-) CGCCAG/ACGAGT 1 -- us2k15Minor allele frequency- A:0.00NS EA NA 418
    rs49502341,2
    C,F,A--148556495(-) CCCTGA/GGATGC 1 -- us2k13Minor allele frequency- G:0.40NA CSA 5
    rs1916390411,2
    C--148556521(+) AGCTTC/TGGGGG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for NBPF15 (148555979 - 148596267 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NBPF15 (see all 19):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717607CNV Deletion23290073
    nsv469683CNV Loss16826518
    dgv7e55CNV Loss17911159
    nsv508604CNV Loss20534489
    nsv428235CNV Gain18775914
    esv27789CNV Gain19812545
    nsv8247CNV Gain18304495
    esv2750807CNV Gain17911159
    nsv872291CNV Gain21882294
    nsv872292CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NBPF15
    DNA2.0 Custom Variant and Variant Library Synthesis for NBPF15

    (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: 610414,614005    OMIM disorders: --

    2 diseases for NBPF15:    
    About MalaCards
    neuroblastoma    schizophrenia


    Find genes that share disorders with NBPF15           About GenesLikeMe

    Genetic Association Database (GAD): NBPF15

    Export disorders for NBPF15 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 NBPF15 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with NBPF15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PubMed id 16079250)1, 2, 3 Vandepoele K.... van Roy F. (Mol. Biol. Evol. 2005)
    2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    4. Evolutionary history and genome organization of DUF1220 protein domains. (PubMed id 22973535)1 O'Bleness M.S....Sikela J.M. (G3 (Bethesda) 2012)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. Genome-wide association study implicates PARD3B-based AIDS restriction. (PubMed id 21502085)4 Troyer J.L....O'Brien S.J. (J. Infect. Dis. 2011)
    7. 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)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Human ORFeome version 1.1: a platform for reverse proteomics. (PubMed id 15489335)1 Rual J.F....Vidal M. (Genome Res. 2004)

    (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: 284565 HGNC: 28791 AceView: MGC8902.1 Ensembl:ENSG00000243452 euGenes: HUgn284565
    ECgene: NBPF15 H-InvDB: NBPF15

    (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 NBPF15 Pharmacogenomics, SNPs, Pathways

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