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Aliases for NBPF14 Gene

Aliases for NBPF14 Gene

  • NBPF Member 14 2 3 5
  • Neuroblastoma Breakpoint Family, Member 14 2
  • Neuroblastoma Breakpoint Family Member 14 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, 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, May 2013]

GeneCards Summary for NBPF14 Gene

NBPF14 (NBPF Member 14) is a Protein Coding gene. Diseases associated with NBPF14 include Neuroblastoma. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is NBPF10.

Additional gene information for NBPF14 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 NBPF14 Gene

Genomics for NBPF14 Gene

GeneHancer (GH) Regulatory Elements for NBPF14 Gene

Promoters and enhancers for NBPF14 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
GH01I148678 Promoter 0.5 Ensembl 550.8 +0.6 550 2.4 LOC105371223 NBPF14 LOC100996763 PIR60228
GH01I147927 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 4.6 +750.0 750009 3.9 HDGF PKNOX1 SIN3A ZNF2 ZBTB7B POLR2B FOS SP3 NFYC REST GPR89B LOC105371229 GJA8 NBPF14 PIR60446
GH01I148302 Enhancer 1 FANTOM5 Ensembl ENCODE 2.5 +376.6 376550 2 USF1 SIN3A POLR2A ATF3 POLR3A ZNF26 ZBTB33 FOS TRH-GTG1-4 GPR89B NBPF14 TRE-TTC6-1 LINC01138
GH01I148675 Enhancer 0.2 Ensembl 0.8 +4.5 4450 0.2 NBPF14 LOC100996763 PIR60228
GH01I148671 Enhancer 0.2 Ensembl 0.4 +7.2 7248 1.8 NBPF14 LOC100996763 PIR60228
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF14 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NBPF14 Gene

Genomic Locations for NBPF14 Gene
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

Post-translational modifications for NBPF14 Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF14 Gene

Domains & Families for NBPF14 Gene

Gene Families for NBPF14 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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



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

Function for NBPF14 Gene

Phenotypes From GWAS Catalog for NBPF14 Gene

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

Animal Model Products

Inhibitory RNA 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NBPF14 gene
Compartment Confidence
nucleus 3
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for NBPF14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF14: view

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 IID

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:

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Protein tissue co-expression partners for NBPF14 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NBPF14 Gene:


SOURCE GeneReport for Unigene cluster for NBPF14 Gene:


mRNA Expression by UniProt/SwissProt for NBPF14 Gene:

Tissue specificity: Expressed in spleen and fetal liver.

Evidence on tissue expression from TISSUES for NBPF14 Gene

  • Nervous system(3.9)
genes like me logo Genes that share expression patterns with NBPF14: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 85.35 (n)
Species where no ortholog for NBPF14 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)
  • 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: Pseudogenes for NBPF14 Gene

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 Variation AA Info Type
rs1043761 -- 148,533,043(-) G/A coding_sequence_variant, missense_variant
rs1043762 -- 148,533,041(-) G/A/C/T coding_sequence_variant, missense_variant, synonymous_variant
rs112500278 -- 148,587,974(-) A/T intron_variant
rs113271014 -- 148,588,305(-) C/G intron_variant
rs137991261 -- 148,533,013(-) G/A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv946952 CNV duplication 23825009
nsv946951 CNV duplication 23825009
nsv946950 CNV duplication 23825009
nsv946949 CNV duplication 23825009
nsv946948 CNV duplication 23825009
nsv946939 CNV duplication 23825009
nsv946938 CNV duplication 23825009
nsv946937 CNV duplication 23825009
nsv946936 CNV duplication 23825009
nsv946935 CNV duplication 23825009
nsv946934 CNV duplication 23825009
nsv946933 CNV duplication 23825009
nsv946932 CNV duplication 23825009
nsv946931 CNV duplication 23825009
nsv946930 CNV duplication 23825009
nsv946929 CNV duplication 23825009
nsv946927 CNV duplication 23825009
nsv946926 CNV duplication 23825009
nsv946925 CNV duplication 23825009
nsv946924 CNV duplication 23825009
nsv946923 CNV duplication 23825009
nsv946922 CNV duplication 23825009
nsv946921 CNV duplication 23825009
nsv946920 CNV duplication 23825009
nsv946919 CNV duplication 23825009
nsv946918 CNV duplication 23825009
nsv946905 CNV duplication 23825009
nsv946904 CNV duplication 23825009
nsv946901 CNV duplication 23825009
nsv946899 CNV duplication 23825009
nsv946898 CNV duplication 23825009
nsv946895 CNV duplication 23825009
nsv946893 CNV duplication 23825009
nsv946892 CNV duplication 23825009
nsv946891 CNV duplication 23825009
nsv946890 CNV duplication 23825009
nsv946889 CNV duplication 23825009
nsv946887 CNV duplication 23825009
nsv946886 CNV duplication 23825009
nsv946885 CNV duplication 23825009
nsv946884 CNV duplication 23825009
nsv946883 CNV duplication 23825009
nsv946882 CNV duplication 23825009
nsv946881 CNV duplication 23825009
nsv946880 CNV duplication 23825009
nsv946879 CNV duplication 23825009
nsv946866 CNV duplication 23825009
nsv946758 CNV duplication 23825009
nsv946757 CNV duplication 23825009
nsv946754 CNV duplication 23825009
nsv946713 CNV duplication 23825009
nsv946712 CNV duplication 23825009
nsv946665 CNV duplication 23825009
nsv8225 CNV gain 18304495
nsv510962 OTHER complex 20534489
nsv509457 CNV insertion 20534489
nsv498688 CNV loss 21111241
nsv435814 CNV deletion 17901297
nsv35 CNV insertion 15895083
nsv2755 CNV insertion 18451855
nsv1141153 CNV duplication 24896259
nsv1132313 CNV duplication 24896259
nsv1132304 CNV duplication 24896259
nsv1005055 CNV loss 25217958
nsv1003688 CNV gain 25217958
esv3339988 CNV duplication 20981092
esv2762190 CNV loss 21179565
esv2761299 CNV gain+loss 21179565
dgv66e199 CNV deletion 23128226
dgv327n100 CNV gain 25217958
dgv201e59 CNV duplication 20981092
dgv14n82 CNV duplication 23825009
dgv13n82 CNV duplication 23825009

Additional Variant Information for NBPF14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for NBPF14 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NBPF14

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 (Molecular biology and evolution 2005) 2 3 4 58
  2. Large-scale concatenation cDNA sequencing. (PMID: 9110174) Yu W … Gibbs RA (Genome research 1997) 2 3 58
  3. A "double adaptor" method for improved shotgun library construction. (PMID: 8619474) Andersson B … Gibbs RA (Analytical biochemistry 1996) 2 3 58
  4. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein MY … Mann M (Cell 2015) 3 58
  5. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PMID: 23314748) Nathan JA … Goldberg AL (The EMBO journal 2013) 3 58

Products for NBPF14 Gene

Sources for NBPF14 Gene

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