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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NBPF7 Gene

protein-coding   GIFtS: 32
GCID: GC01M120377

Neuroblastoma Breakpoint Family, Member 7

  See 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)
About This Section

Aliases
Neuroblastoma Breakpoint Family, Member 71 2
Putative Neuroblastoma Breakpoint Family Member 72

External Ids:    HGNC: 319891   Entrez Gene: 3435052   Ensembl: ENSG000002158647   OMIM: 6139975   UniProtKB: P0C2Y13   

Export aliases for NBPF7 gene to outside databases

Previous GC identifers: GC01M120090 GC01M120178 GC01M118235


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NBPF7 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 2013)

GeneCards Summary for NBPF7 Gene: 
NBPF7 (neuroblastoma breakpoint family, member 7) is a protein-coding gene. Diseases associated with NBPF7 include neuroblastoma.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NBPF7 gene promoter:
         STAT5B   STAT1   STAT4   STAT1beta   STAT6   STAT5A   STAT1alpha   STAT2   STAT3   Cart-1   
         Other transcription factors

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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NBPF7


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

Entrez Gene cytogenetic band: 1p12   Ensembl cytogenetic band:  1p12   HGNC cytogenetic band: 1p12

NBPF7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBPF7 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M120377:  view genomic region     (about GC identifiers)

Start:
120,377,388 bp from pter      End:
120,387,779 bp from pter
Size:
10,392 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NBPF7_HUMAN, P0C2Y1 (See protein sequence)
Recommended Name: Putative neuroblastoma breakpoint family member 7  
Size: 421 amino acids; 48090 Da
Subcellular location: Cytoplasm (Probable)
Miscellaneous: Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the
chromosome 1
Caution: Could be the product of a pseudogene

Explore the universe of human proteins at neXtProt for NBPF7: NX_P0C2Y1

Explore proteomics data for NBPF7 at MOPED 

NBPF7 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

NBPF7 Protein Expression

REFSEQ proteins: NP_001041445.1  
Human Recombinant Protein Products for NBPF7: 
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Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

NBPF7 for ontologies           About GeneDecksing



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

1 InterPro protein domain:
 IPR010630 NBPF_dom

Graphical View of Domain Structure for InterPro Entry P0C2Y1

ProtoNet protein and cluster: P0C2Y1

UniProtKB/Swiss-Prot: NBPF7_HUMAN, P0C2Y1
Similarity: Belongs to the NBPF family
Similarity: Contains 2 NBPF domains


NBPF7 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Animal Models:
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NBPF7

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
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Search CenterWatch for drugs/clinical trials and news about NBPF7

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NBPF7 gene: 
NM_001047980.2  

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000445758 ENST00000401014(uc010oxk.2)
miRNA
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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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NBPF7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: ATGTGTCCCA
NBPF7 Expression
About this image


See NBPF7 Protein Expression from SPIRE MOPED and PaxDB    SABiosciences Custom PCR Arrays for NBPF7
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In Situ
Assay Products:
 

 
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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)
About This Section
  --

ENSEMBL Gene Tree for NBPF7 (if available)
TreeFam Gene Tree for NBPF7 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for NBPF7 gene
18/19 SIMAP similar genes for NBPF7 using alignment to 1 protein entry:     NBPF7_HUMAN(see all similar genes):
NBPF21    NBPF20    LOC101059961    NBPF11    NBPF12    NBPF24
AL592307.2    NBPF10    NBPF15    NBPF16    NBPF8    NBPF8P
NBPF9    NBPF1    NBPF3    NBPF14    NBPF5P    NBPF6

NBPF7 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/379 SNPs in NBPF7 are shown (see all 379)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 1 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1502256541,2
--120376939(+) GTTCAA/GAGTGA 1 -- ds50010--------
rs18156871,2
C,F,A,H--120377129(+) TTTTCA/CGCAAG 1 -- ds500130Minor allele frequency- C:0.23NS EA NA WA CSA 2444
rs1415559841,2
--120377173(+) GTCCCA/GGGTGA 1 -- ds50010--------
rs1470343811,2
C--120377197(+) GCCAGA/CGGCTC 1 -- ds50010--------
rs1833422821,2
--120377251(+) TAAGGA/CCTCTC 1 -- ds50010--------
rs2002522331,2
C,F--120377463(+) TCATCG/AAGCAG 2 /L syn11Minor allele frequency- A:0.00EU 1323
rs1145509561,2
C,F--120377579(+) TCTTGC/TTGATG 1 -- int11Minor allele frequency- T:0.02WA 118
rs1165612741,2
C,F--120377620(+) TAGCCC/TAGGGG 1 -- int11Minor allele frequency- T:0.03WA 118
rs1385955391,2
--120377694(+) GTGCCA/GTCCAC 1 -- int10--------
rs1866469931,2
--120377714(+) GAAAAC/TAACCC 1 -- int10--------

HapMap Linkage Disequilibrium report for NBPF7 (120377388 - 120387779 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for NBPF7:    About this table     
Variant IDTypeSubtypePubMed ID
esv2716818CNV Deletion23290073
nsv872180CNV Loss21882294
nsv831215CNV Gain17160897
nsv524681CNV Gain19592680
nsv428201CNV Gain18775914
nsv10672CNV Gain18304495
nsv831226CNV Gain+Loss17160897
dgv94e1CNV Complex17122850
dgv93e1CNV Complex17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 613997    OMIM disorders: --

2 diseases for NBPF7:    About MalaCards
neuroblastoma    


NBPF7 for disorders           About GeneDecksing

Genetic Association Database (GAD): NBPF7

Export disorders for NBPF7 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)
About This Section

PubMed articles for NBPF7 gene integrated from 9 sources:
(articles sorted by number of sources associating them with NBPF7)
    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, 3 Vandepoele K.... van Roy F. (2005)
  2. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 343505 HGNC: 31989 Ensembl:ENSG00000215864 euGenes: HUgn343505 ECgene: NBPF7
H-InvDB: NBPF7

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for NBPF7 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for NBPF7 gene:
Search GeneIP for patents involving NBPF7

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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