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Aliases for NBPF14 Gene

Aliases for NBPF14 Gene

  • Neuroblastoma Breakpoint Family Member 14 2 3 5
  • Neuroblastoma Breakpoint Family, Member 14 2 3
  • DJ328E19.C1.1 3
  • NBPF 3
  • AE5 3

External Ids for NBPF14 Gene

Previous GeneCards Identifiers for NBPF14 Gene

  • GC01M145120
  • GC01M146470
  • GC01M148003

Summaries for NBPF14 Gene

Entrez Gene Summary for NBPF14 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 NBPF14 Gene

NBPF14 (Neuroblastoma Breakpoint Family Member 14) is a Protein Coding gene. Diseases associated with NBPF14 include Neuroblastoma. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is NBPF3.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF14 Gene

Genomics for NBPF14 Gene

Regulatory Elements for NBPF14 Gene

Enhancers for NBPF14 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NBPF14 on UCSC Golden Path with GeneCards custom track

Genomic Location for NBPF14 Gene

148,531,385 bp from pter
148,679,751 bp from pter
148,367 bases
Minus strand

Genomic View for NBPF14 Gene

Genes around NBPF14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF14 Gene

Proteins for NBPF14 Gene

  • Protein details for NBPF14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuroblastoma breakpoint family member 14
    Protein Accession:
    Secondary Accessions:
    • Q5TI23
    • Q8IX76
    • Q9UJI9

    Protein attributes for NBPF14 Gene

    921 amino acids
    Molecular mass:
    105853 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=CAI20179.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAI20180.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20181.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20182.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20183.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20184.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20185.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI20186.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for NBPF14 Gene

Proteomics data for NBPF14 Gene at MOPED

Post-translational modifications for NBPF14 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for NBPF14 Gene

Domains & Families for NBPF14 Gene

Gene Families for NBPF14 Gene

Protein Domains for NBPF14 Gene


Suggested Antigen Peptide Sequences for NBPF14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 10 NBPF domains.
  • Belongs to the NBPF family.
  • Contains 10 NBPF domains.
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF14: view

Function for NBPF14 Gene

genes like me logo Genes that share phenotypes with NBPF14: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NBPF14 Gene

Localization for NBPF14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF14 Gene


Subcellular locations from

Jensen Localization Image for NBPF14 Gene COMPARTMENTS Subcellular localization image for NBPF14 gene
Compartment Confidence
nucleus 3
cytosol 1

No data available for Gene Ontology (GO) - Cellular Components for NBPF14 Gene

Pathways & Interactions for NBPF14 Gene

SuperPathways for NBPF14 Gene

No Data Available

Interacting Proteins for NBPF14 Gene

Selected Interacting proteins: Q5TI25-NBPFE_HUMAN for NBPF14 Gene via I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for NBPF14 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF14 Gene

Drugs & Compounds for NBPF14 Gene

No Compound Related Data Available

Transcripts for NBPF14 Gene

Unigene Clusters for NBPF14 Gene

Neuroblastoma breakpoint family, member 14:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF14 Gene

No ASD Table

Relevant External Links for NBPF14 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF14 Gene

mRNA expression in normal human tissues for NBPF14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF14 Gene

SOURCE GeneReport for Unigene cluster for NBPF14 Gene Hs.732082

mRNA Expression by UniProt/SwissProt for NBPF14 Gene

Tissue specificity: Expressed in spleen and fetal liver.
genes like me logo Genes that share expression patterns with NBPF14: view

Protein tissue co-expression partners for NBPF14 Gene

- Elite partner

Primer Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for NBPF14 Gene

Orthologs for NBPF14 Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for NBPF14 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC458021 35
  • 85.35 (n)
  • 76.51 (a)
Species with no ortholog for NBPF14:
  • 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)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • 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 NBPF14 Gene

Gene Tree for NBPF14 (if available)
Gene Tree for NBPF14 (if available)

Paralogs for NBPF14 Gene

(17) SIMAP similar genes for NBPF14 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with NBPF14: view

Variants for NBPF14 Gene

Sequence variations from dbSNP and Humsavar for NBPF14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_032381 -
VAR_032382 -
rs320831 -- 148,580,727(-) tgatg(A/G)gtttc intron-variant
rs1855757 -- 148,538,924(-) CCCAA(G/T)ATCAT intron-variant
rs1911541 -- 148,538,732(-) CATAT(G/T)AAGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF14 Gene

Variant ID Type Subtype PubMed ID
nsv7181 OTHER Inversion 18451855
dgv116e1 CNV Complex 17122850
dgv117e1 CNV Complex 17122850
esv2750803 CNV Gain 17911159
nsv428235 CNV Gain 18775914
dgv118e1 CNV Complex 17122850
dgv119e1 CNV Complex 17122850
dgv120e1 CNV Complex 17122850
dgv7e55 CNV Loss 17911159
esv2750807 CNV Gain 17911159
dgv357n71 CNV Gain 21882294
esv2717607 CNV Deletion 23290073
dgv358n71 CNV Gain 21882294
esv23584 CNV Gain 19812545
nsv8225 CNV Gain 18304495
nsv872281 CNV Gain+Loss 21882294
dgv121e1 CNV Complex 17122850
dgv359n71 CNV Loss 21882294
nsv872286 CNV Loss 21882294
nsv2755 CNV Insertion 18451855
dgv122e1 CNV Complex 17122850
nsv35 CNV Insertion 15895083
nsv872291 CNV Gain 21882294

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for NBPF14 Gene

Disorders for NBPF14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF14 Gene - From: GeneCards

Disorder Aliases PubMed IDs
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NBPF14

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with NBPF14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF14 Gene

Publications for NBPF14 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 4 67
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W. … Gibbs R.A. (Genome Res. 1997) 2 3
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B. … Gibbs R.A. (Anal. Biochem. 1996) 2 3
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan J.A. … Goldberg A.L. (EMBO J. 2013) 3

Products for NBPF14 Gene

Sources for NBPF14 Gene