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... See more...

Aliases for NBPF15 Gene

Aliases for NBPF15 Gene

  • NBPF Member 15 2 3 5
  • Neuroblastoma Breakpoint Family, Member 16 2 3
  • Neuroblastoma Breakpoint Family Member 15 3 4
  • NBPF16 3 4
  • Neuroblastoma Breakpoint Family Member 16 4
  • AB14 3
  • AG3 3

External Ids for NBPF15 Gene

Previous HGNC Symbols for NBPF15 Gene

  • NBPF16

Previous GeneCards Identifiers for NBPF15 Gene

  • GC01P145341
  • GC01P146827
  • GC01P148555
  • GC01P119791

Summaries for NBPF15 Gene

Entrez Gene Summary for NBPF15 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 NBPF15 Gene

NBPF15 (NBPF Member 15) is a Protein Coding gene. Diseases associated with NBPF15 include Neuroblastoma and Microcephaly. An important paralog of this gene is NBPF10.

Additional gene information for NBPF15 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NBPF15 Gene

Genomics for NBPF15 Gene

GeneHancer (GH) Regulatory Elements for NBPF15 Gene

Promoters and enhancers for NBPF15 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
GH01J144460 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 513.9 +0.5 473 2.8 ZBTB40 ZNF217 NRF1 PHF8 ZFX ZNF10 ZIC2 ZBTB10 ZBTB26 TARDBP NBPF15 piR-36903-002 lnc-NBPF15-4 piR-45897-002 piR-50535-002
GH01J144444 Promoter 0.3 EPDnew 500.4 +17.4 17362 0.1 PFN1P6 piR-41732-002 NBPF15
GH01J144451 Enhancer 0.2 Ensembl 13.8 +10.1 10126 0.7 piR-30195-002 piR-48049-007 piR-54296-001 NBPF15 lnc-NBPF15-4
GH01J144452 Enhancer 0.2 Ensembl 0.4 +9.1 9073 0.4 piR-30195-002 piR-48049-007 piR-37209-002 NBPF15 lnc-NBPF15-4
GH01J144449 Enhancer 0.2 Ensembl 0.4 +12.4 12373 0.6 piR-35442-003 piR-54296-001 piR-61534-006 NBPF15 lnc-NBPF15-4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBPF15 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBPF15

Top Transcription factor binding sites by QIAGEN in the NBPF15 gene promoter:
  • Evi-1
  • GATA-1
  • GATA-2
  • GATA-3
  • ITF-2
  • Tal-1beta

Genomic Locations for NBPF15 Gene

Genomic Locations for NBPF15 Gene
40,289 bases
Minus strand
40,289 bases
Plus strand

Genomic View for NBPF15 Gene

Genes around NBPF15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF15 Gene

Proteins for NBPF15 Gene

  • Protein details for NBPF15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuroblastoma breakpoint family member 15
    Protein Accession:
    Secondary Accessions:
    • A8MPT6
    • Q3BBV9
    • Q5SXJ2
    • Q8IX77

    Protein attributes for NBPF15 Gene

    670 amino acids
    Molecular mass:
    77563 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 NBPF15 Gene

Post-translational modifications for NBPF15 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NBPF15 Gene

No data available for DME Specific Peptides for NBPF15 Gene

Domains & Families for NBPF15 Gene

Gene Families for NBPF15 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NBPF15 Gene


Suggested Antigen Peptide Sequences for NBPF15 Gene

GenScript: Design optimal peptide antigens:
  • Neuroblastoma breakpoint family member 15 (NBPFF_HUMAN)
  • Neuroblastoma breakpoint family member 16 (NBPFG_HUMAN)

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 NBPF15: view

Function for NBPF15 Gene

genes like me logo Genes that share phenotypes with NBPF15: view

Animal Model Products

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 , Transcription Factor Targets and HOMER Transcription for NBPF15 Gene

Localization for NBPF15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF15 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 NBPF15 gene
Compartment Confidence
plasma membrane 1
extracellular 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear bodies (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NBPF15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF15: view

Pathways & Interactions for NBPF15 Gene

PathCards logo

SuperPathways for NBPF15 Gene

No Data Available

Interacting Proteins for NBPF15 Gene

Selected Interacting proteins: Q8N660-NBPFF_HUMAN for NBPF15 Gene via MINT IID


Gene Ontology (GO) - Biological Process for NBPF15 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF15 Gene

Drugs & Compounds for NBPF15 Gene

No Compound Related Data Available

Transcripts for NBPF15 Gene

mRNA/cDNA for NBPF15 Gene

15 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF15 Gene

No ASD Table

Relevant External Links for NBPF15 Gene

GeneLoc Exon Structure for

Expression for NBPF15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NBPF15 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF15 Gene

Protein tissue co-expression partners for NBPF15 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBPF15

SOURCE GeneReport for Unigene cluster for NBPF15 Gene:


mRNA Expression by UniProt/SwissProt for NBPF15 Gene:

Tissue specificity: Ubiquitously expressed with a higher expression observed in breast and liver. Also expressed in neuroblastoma cell line.

Evidence on tissue expression from TISSUES for NBPF15 Gene

  • Skin(4.2)
genes like me logo Genes that share expression patterns with NBPF15: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF15 Gene

Orthologs for NBPF15 Gene

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

Orthologs for NBPF15 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC458021 30
  • 90.69 (n)
Species where no ortholog for NBPF15 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 NBPF15 Gene

Gene Tree for NBPF15 (if available)
Gene Tree for NBPF15 (if available)

Paralogs for NBPF15 Gene

(17) SIMAP similar genes for NBPF15 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with NBPF15: view

Variants for NBPF15 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NBPF15 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs6695216 - p.Pro615Gln

Additional dbSNP identifiers (rs#s) for NBPF15 Gene

Structural Variations from Database of Genomic Variants (DGV) for NBPF15 Gene

Variant ID Type Subtype PubMed ID
dgv380n100 CNV gain+loss 25217958
dgv381n100 CNV gain 25217958
dgv383n100 CNV loss 25217958
dgv397n100 CNV loss 25217958
dgv99e212 CNV loss 25503493
esv3587457 CNV loss 21293372
esv3587458 CNV gain 21293372
esv3894156 CNV loss 25118596
esv3894189 CNV gain+loss 25118596
nsv1075796 CNV duplication 25765185
nsv1110141 CNV duplication 24896259
nsv1110142 CNV duplication 24896259
nsv1115360 CNV duplication 24896259
nsv1148571 CNV duplication 26484159
nsv8247 CNV gain 18304495
nsv946974 CNV duplication 23825009
nsv952716 CNV duplication 24416366
nsv952717 CNV duplication 24416366

Variation tolerance for NBPF15 Gene

Gene Damage Index Score: 0.40; 8.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBPF15 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBPF15 Gene

Disorders for NBPF15 Gene

MalaCards: The human disease database

(3) MalaCards diseases for NBPF15 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • nb
  • microcephalus
  • autistic disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NBPF15

genes like me logo Genes that share disorders with NBPF15: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF15 Gene

Publications for NBPF15 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 54
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  3. A Y2H-seq approach defines the human protein methyltransferase interactome. (PMID: 23455924) Weimann M … Stelzl U (Nature methods 2013) 3 54
  4. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness MS … Sikela JM (G3 (Bethesda, Md.) 2012) 3 54
  5. Genome-wide association study implicates PARD3B-based AIDS restriction. (PMID: 21502085) Troyer JL … O'Brien SJ (The Journal of infectious diseases 2011) 41 54

Products for NBPF15 Gene

Sources for NBPF15 Gene