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Aliases for NBPF7 Gene

Aliases for NBPF7 Gene

  • NBPF Member 7 2 3 5
  • Neuroblastoma Breakpoint Family, Member 7 2

External Ids for NBPF7 Gene

Previous GeneCards Identifiers for NBPF7 Gene

  • GC01M120090
  • GC01M120178
  • GC01M120377
  • GC01M118235

Summaries for NBPF7 Gene

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, cognitive disability, 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 (NBPF Member 7) is a Protein Coding gene. Diseases associated with NBPF7 include Neuroblastoma.

Additional gene information for NBPF7 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF7 Gene

Genomics for NBPF7 Gene

GeneHancer (GH) Regulatory Elements for NBPF7 Gene

Promoters and enhancers for NBPF7 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I119638 Enhancer 0.2 FANTOM5 6.9 +206.5 206503 0.3 NBPF7 ZNF697 GC01M119620
GH01I120149 Enhancer 0.4 FANTOM5 1.7 -305.2 -305189 0.4 POLR2B NOTCH2 NBPF7 GC01P120130 SEC22B
GH01I119982 Enhancer 0.4 FANTOM5 dbSUPER 1.6 -138.2 -138167 0.3 ADAM30 NOTCH2 ZNF697 NBPF7 GC01P119934
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF7 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NBPF7 gene promoter:

Genomic Locations for NBPF7 Gene

Genomic Locations for NBPF7 Gene
11,151 bases
Minus strand

Genomic View for NBPF7 Gene

Genes around NBPF7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF7 Gene

Proteins for NBPF7 Gene

  • Protein details for NBPF7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative neuroblastoma breakpoint family member 7
    Protein Accession:

    Protein attributes for NBPF7 Gene

    421 amino acids
    Molecular mass:
    48090 Da
    Quaternary structure:
    No Data Available
    • Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.

neXtProt entry for NBPF7 Gene

Post-translational modifications for NBPF7 Gene

No Post-translational modifications

Other Protein References for NBPF7 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for NBPF7 Gene

Domains & Families for NBPF7 Gene

Gene Families for NBPF7 Gene

Protein Domains for NBPF7 Gene


Suggested Antigen Peptide Sequences for NBPF7 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the NBPF family.
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF7: view

Function for NBPF7 Gene

Phenotypes for NBPF7 Gene

genes like me logo Genes that share phenotypes with NBPF7: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF7 Gene

Localization for NBPF7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF7 Gene


Gene Ontology (GO) - Cellular Components for NBPF7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF7: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for NBPF7 Gene

Pathways & Interactions for NBPF7 Gene

SuperPathways for NBPF7 Gene

No Data Available

Interacting Proteins for NBPF7 Gene

Gene Ontology (GO) - Biological Process for NBPF7 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF7 Gene

Drugs & Compounds for NBPF7 Gene

No Compound Related Data Available

Transcripts for NBPF7 Gene

mRNA/cDNA for NBPF7 Gene

(2) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF7 Gene

No ASD Table

Relevant External Links for NBPF7 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF7 Gene

mRNA differential expression in normal tissues according to GTEx for NBPF7 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x24.2), Testis (x12.6), and Colon - Transverse (x12.6).

Protein differential expression in normal tissues from HIPED for NBPF7 Gene

This gene is overexpressed in Heart (56.2) and Adrenal (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF7 Gene

Protein tissue co-expression partners for NBPF7 Gene

NURSA nuclear receptor signaling pathways regulating expression of NBPF7 Gene:

genes like me logo Genes that share expression patterns with NBPF7: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF7 Gene

Orthologs for NBPF7 Gene

Evolution for NBPF7 Gene

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

No data available for Orthologs for NBPF7 Gene

Paralogs for NBPF7 Gene

(17) SIMAP similar genes for NBPF7 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NBPF7: view

No data available for Paralogs for NBPF7 Gene

Variants for NBPF7 Gene

Sequence variations from dbSNP and Humsavar for NBPF7 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000082510 -- 119,837,205(-) G/C intron_variant
rs1000467912 -- 119,842,350(-) A/G intron_variant
rs1000520692 -- 119,838,980(-) T/C intron_variant
rs1000719573 -- 119,833,277(-) A/G downstream_transcript_variant
rs1001854696 -- 119,833,670(-) T/C downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF7 Gene

Variant ID Type Subtype PubMed ID
nsv946187 CNV duplication 23825009
nsv945590 CNV duplication 23825009
nsv831226 CNV gain+loss 17160897
nsv831215 CNV gain 17160897
nsv524681 CNV gain 19592680
nsv428201 CNV gain 18775914
nsv10672 CNV gain 18304495
esv2716818 CNV deletion 23290073

Additional Variant Information for NBPF7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF7 Gene

Disorders for NBPF7 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF7 Gene - From: GeneCards

Disorder Aliases PubMed IDs
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search NBPF7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NBPF7

genes like me logo Genes that share disorders with NBPF7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF7 Gene

Publications for NBPF7 Gene

  1. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PMID: 16079250) Vandepoele K … van Roy F (Molecular biology and evolution 2005) 2 3 58
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58

Products for NBPF7 Gene

Sources for NBPF7 Gene

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