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Aliases for NBPF6 Gene

Aliases for NBPF6 Gene

  • Neuroblastoma Breakpoint Family Member 6 2 3 5
  • Neuroblastoma Breakpoint Family, Member 6 2

External Ids for NBPF6 Gene

Previous GeneCards Identifiers for NBPF6 Gene

  • GC01U901190
  • GC01P108720
  • GC01P108794
  • GC01P108919

Summaries for NBPF6 Gene

Entrez Gene Summary for NBPF6 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. Alternative splicing of this gene results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2013]

GeneCards Summary for NBPF6 Gene

NBPF6 (Neuroblastoma Breakpoint Family Member 6) is a Protein Coding gene. Diseases associated with NBPF6 include Neuroblastoma. An important paralog of this gene is NBPF4.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF6 Gene

Genomics for NBPF6 Gene

Regulatory Elements for NBPF6 Gene

Transcription factor binding sites by QIAGEN in the NBPF6 gene promoter:

Genomic Location for NBPF6 Gene

108,376,119 bp from pter
108,471,903 bp from pter
95,785 bases
Plus strand

Genomic View for NBPF6 Gene

Genes around NBPF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF6 Gene

Proteins for NBPF6 Gene

  • Protein details for NBPF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuroblastoma breakpoint family member 6
    Protein Accession:
    Secondary Accessions:
    • A4QN25

    Protein attributes for NBPF6 Gene

    638 amino acids
    Molecular mass:
    72239 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.
    • Sequence=CAH70399.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI23469.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for NBPF6 Gene


neXtProt entry for NBPF6 Gene

Post-translational modifications for NBPF6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NBPF6 Gene

Domains & Families for NBPF6 Gene

Gene Families for NBPF6 Gene

Protein Domains for NBPF6 Gene


Suggested Antigen Peptide Sequences for NBPF6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 3 NBPF domains.
  • Belongs to the NBPF family.
  • Contains 3 NBPF domains.
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF6: view

Function for NBPF6 Gene

Phenotypes for NBPF6 Gene

GenomeRNAi human phenotypes for NBPF6:
genes like me logo Genes that share phenotypes with NBPF6: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF6 Gene

Localization for NBPF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF6 Gene


Subcellular locations from

Jensen Localization Image for NBPF6 Gene COMPARTMENTS Subcellular localization image for NBPF6 gene
Compartment Confidence
cytosol 2
nucleus 2

Gene Ontology (GO) - Cellular Components for NBPF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF6: view

Pathways & Interactions for NBPF6 Gene

SuperPathways for NBPF6 Gene

No Data Available

Interacting Proteins for NBPF6 Gene

Gene Ontology (GO) - Biological Process for NBPF6 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF6 Gene

Transcripts for NBPF6 Gene

mRNA/cDNA for NBPF6 Gene

(6) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NBPF6 Gene

Neuroblastoma breakpoint family, member 6:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF6 Gene

No ASD Table

Relevant External Links for NBPF6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF6 Gene

mRNA expression in normal human tissues for NBPF6 Gene

mRNA differential expression in normal tissues according to GTEx for NBPF6 Gene

This gene is overexpressed in Testis (x21.2), Small Intestine - Terminal Ileum (x6.0), and Brain - Putamen (basal ganglia) (x5.2).

Protein differential expression in normal tissues from HIPED for NBPF6 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF6 Gene

Protein tissue co-expression partners for NBPF6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NBPF6 Gene:


SOURCE GeneReport for Unigene cluster for NBPF6 Gene:

genes like me logo Genes that share expression patterns with NBPF6: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for NBPF6 Gene

Orthologs for NBPF6 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NBPF6 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC740049 34
  • 98.1 (n)
-- 35
  • 94 (a)
(Bos Taurus)
Mammalia LOC101903302 34
  • 63.35 (n)
-- 35
  • 40 (a)
-- 35
  • 35 (a)
(Canis familiaris)
Mammalia -- 35
  • 40 (a)
Species where no ortholog for NBPF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • mouse (Mus musculus)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for NBPF6 Gene

Gene Tree for NBPF6 (if available)
Gene Tree for NBPF6 (if available)

Paralogs for NBPF6 Gene

Variants for NBPF6 Gene

Sequence variations from dbSNP and Humsavar for NBPF6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs111314139 -- 108,432,728(+) GTCCC(A/G)GTGAG intron-variant, utr-variant-5-prime
rs111391755 -- 108,438,526(+) CCAGC(A/G)TTACT intron-variant
rs111583978 -- 108,429,289(+) ACTCT(C/G)ACAGT intron-variant
rs111665160 -- 108,455,999(+) AAAGA(A/G)ACAGA intron-variant
rs111830828 -- 108,452,304(+) CCCCA(C/T)TGGGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF6 Gene

Variant ID Type Subtype PubMed ID
dgv250n100 CNV gain 25217958
dgv481n54 CNV loss 21841781
dgv486n54 CNV loss 21841781
dgv75e212 CNV gain 25503493
dgv76e212 CNV loss 25503493
esv23343 CNV gain+loss 19812545
esv2758958 CNV gain+loss 17122850
esv3391223 CNV duplication 20981092
nsv10606 CNV loss 18304495
nsv1128597 CNV duplication 24896259
nsv1148137 CNV duplication 26484159
nsv1161257 CNV deletion 26073780
nsv2276 CNV deletion 18451855
nsv428179 CNV gain 18775914
nsv498679 CNV loss 21111241
nsv547410 CNV gain 21841781
nsv821488 CNV deletion 20802225
nsv823886 CNV gain 20364138
nsv946124 CNV duplication 23825009
nsv951369 CNV deletion 24416366

Variation tolerance for NBPF6 Gene

Gene Damage Index Score: 12.04; 93.75% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NBPF6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBPF6 Gene

Disorders for NBPF6 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF6 Gene - From: GeneCards

Disorder Aliases PubMed IDs
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search NBPF6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NBPF6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NBPF6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF6 Gene

Publications for NBPF6 Gene

  1. A novel gene family NBPF: intricate structure generated by gene duplications during primate evolution. (PMID: 16079250) Vandepoele K. … van Roy F. (Mol. Biol. Evol. 2005) 2 3 64
  2. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness M.S. … Sikela J.M. (G3 (Bethesda) 2012) 3 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3 64

Products for NBPF6 Gene

Sources for NBPF6 Gene

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