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NBPF20 Gene

protein-coding   GIFtS: 29
GCID: GC01M148250

Neuroblastoma Breakpoint Family, Member 20

  See NBPF20-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 201 2
Neuroblastoma Breakpoint Family Member 202

External Ids:    HGNC: 320001   Entrez Gene: 1002881422   Ensembl: ENSG000002038327   OMIM: 6140075   UniProtKB: Q3BBV13   

Export aliases for NBPF20 gene to outside databases

Previous GC identifers: GC01P9K0165 GC01M146616


(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 NBPF20 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, Mar 2014)

GeneCards Summary for NBPF20 Gene:
NBPF20 (neuroblastoma breakpoint family, member 20) is a protein-coding gene. Diseases associated with NBPF20 include neuroblastoma, and schizophrenia. An important paralog of this gene is NBPF6.

Gene Wiki entry for NBPF20 (NBPF10) 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 NBPF20 gene promoter:
         Max1   AhR   C/EBPbeta   AML1a   GCNF   GATA-1   GCNF-1   c-Myb   GCNF-2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNBPF20 promoter sequence
   Search Chromatin IP Primers for NBPF20

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NBPF20


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: 1q21.2

NBPF20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF20 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M148250:  view genomic region     (about GC identifiers)

Start:
148,250,249 bp from pter      End:
148,347,506 bp from pter
Size:
97,258 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: NBPFK_HUMAN, Q3BBV1 (See protein sequence)
Recommended Name: Neuroblastoma breakpoint family member 20  
Size: 942 amino acids; 108576 Da
Miscellaneous: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the
chromosome 1

Explore the universe of human proteins at neXtProt for NBPF20: NX_Q3BBV1

Explore proteomics data for NBPF20 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See NBPF20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001265196.1  
    ENSEMBL proteins: 
     ENSP00000358203   ENSP00000358189   ENSP00000358190   ENSP00000389520  

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    Search eBioscience for ELISAs for NBPF20 


    (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 Q3BBV1

    ProtoNet protein and cluster: Q3BBV1

    UniProtKB/Swiss-Prot: NBPFK_HUMAN, Q3BBV1
    Similarity: Belongs to the NBPF family
    Similarity: Contains 7 NBPF domains


    Find genes that share domains with NBPF20           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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NBPF20
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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
    NBPFK_HUMAN, Q3BBV1: Cytoplasm (Probable)

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

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

    Find genes that share ontologies with NBPF20           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 NBPF20
    Interactions:

        Search GeneGlobe Interaction Network for NBPF20

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for NBPF20 (ENSP000003582034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COG8ENSP000003054594STRING: ENSP00000305459
    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 NBPF20 (NBPFK)



    (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 NBPF20 gene: 
    NM_001278267.1  

    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369202(uc021owf.1 uc001eri.1 uc021owj.1 uc021owp.1 uc021owb.1 uc021owk.1 uc010pan.1 uc021owm.1 uc021owu.1 uc001erg.1 uc001erq.1 uc001eru.1 uc021oww.1 uc021owq.1 uc021owv.1 uc021owg.1 uc021ows.1 uc021owy.1 uc021own.1 uc010paq.2 uc021owz.1 uc001erl.1 uc021owh.1 uc021owl.1 uc021owx.1 uc021oxa.1 uc021owt.1 uc021owr.1 uc001esa.1 uc001erb.3 uc021owo.1 uc001erc.4 uc001erd.4 uc010paj.2)
    ENST00000369188(uc009wkf.1) ENST00000369189(uc010pav.2 uc010paw.2)
    ENST00000414710
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    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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    NBPF20 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    NBPF20 Expression
    About this image

    NBPF20 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NBPF20 Protein Expression
        Custom PCR Arrays for NBPF20
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    In Situ
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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 mammals.

    Orthologs for NBPF20 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
    37(a)
    1 → many
    17(57512543-57515264)


    ENSEMBL Gene Tree for NBPF20 (if available)
    TreeFam Gene Tree for NBPF20 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NBPF20 gene
    NBPF141 2  NBPF19  NBPF101 2  NBPF121 2  NBPF26  NBPF91 2  NBPF151 2  NBPF81 2  
    LOC102724250  NBPF11 2  NBPF111 2  NBPF62  NBPF32  ENSG000002038362  NBPF42  ENSG000002038272  
    17 SIMAP similar genes for NBPF20 using alignment to 2 protein entries:     NBPFK_HUMAN (see all proteins):
    NBPF21    NBPF15    NBPF16    NBPF14    AL592307.2    NBPF10
    NBPF11    NBPF9    NBPF8    NBPF1    NBPF24    NBPF12
    NBPF5P    NBPF7    NBPF3    NBPF6    NBPF4

    Find genes that share paralogs with NBPF20           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for NBPF20
    PGOHUM00000244259 PGOHUM00000244926


    (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 NBPF20 (see all 1060)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2009574931,2
    F--16974723(+) ATGTTA/CTTCAA 1 -- nc-transcript-variant1Minor allele frequency- C:0.03EU 329
    rs1999776271,2
    F--16974877(+) TTCTGG/TTTAGG 1 -- int11Minor allele frequency- T:0.04EU 167
    rs1995387561,2
    C--16975829(+) ATGGCA/CACTGC 1 -- int10--------
    rs2018802381,2
    C--16976111(+) TTTTTA/CAACAG 1 -- int10--------
    rs2010315951,2
    F--16976321(+) TACAGC/AAGTGC 1 -- nc-transcript-variant1Minor allele frequency- A:0.11EU 131
    rs1899998321,2
    --16976657(+) CAGAAC/GTATGA 1 -- int10--------
    rs2010864891,2
    C--16976671(+) GGACTC/GAAGGG 1 -- int10--------
    rs1997711821,2
    C--16976783(+) CTCCTA/GGAAAT 1 -- int10--------
    rs2016641361,2
    F--16977100(+) AGGACC/GAAGAA 1 -- nc-transcript-variant1Minor allele frequency- G:0.02EU 303
    rs2010992201,2
    F--16979426(+) ATGTTA/CTTCAA 1 -- nc-transcript-variant1Minor allele frequency- C:0.04EU 323

    HapMap Linkage Disequilibrium report for NBPF20 (148250249 - 148347506 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NBPF20: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NBPF20
    DNA2.0 Custom Variant and Variant Library Synthesis for NBPF20

    (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: 614007    OMIM disorders: --

    2 diseases for NBPF20:    
    About MalaCards
    neuroblastoma    schizophrenia


    Find genes that share disorders with NBPF20           About GenesLikeMe


    Export disorders for NBPF20 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 article for NBPF20 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with NBPF20)
        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)

    (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: 100288142 HGNC: 32000 Ensembl:ENSG00000203832 euGenes: HUgn100288142 ECgene: NBPF20
    H-InvDB: NBPF20

    (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)
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      --

    (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 NBPF20 gene:
    Search GeneIP for patents involving NBPF20

    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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     Browse ESI BIO Cell Lines and PureStem Progenitors for NBPF20
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     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBPF20
     Browse SwitchGear 3'UTR luciferase reporter plasmids for NBPF20
     SwitchGear Promoter luciferase reporter plasmids for NBPF20
     Search ThermoFisher Antibodies for NBPF20
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NBPF20
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NBPF20
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NBPF20
     Search LSBio for Antibodies for NBPF20
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     Browse compounds at ApexBio
     Search Addgene for plasmids for NBPF20
      Search eBioscience for proteins for NBPF20
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      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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