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 NBPF10 Gene

Aliases for NBPF10 Gene

  • NBPF Member 10 2 3 5
  • Neuroblastoma Breakpoint Family Member 10 3 4
  • AG1 2 3
  • Neuroblastoma Breakpoint Family, Member 10 2
  • NBPF10 5
  • NBPF9 3
  • AB6 3

External Ids for NBPF10 Gene

Previous GeneCards Identifiers for NBPF10 Gene

  • GC01P142784
  • GC01M016761
  • GC01P144001
  • GC01P145293
  • GC01M120910
  • GC01P145294
  • GC01P145297

Summaries for NBPF10 Gene

Entrez Gene Summary for NBPF10 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

GeneCards Summary for NBPF10 Gene

NBPF10 (NBPF Member 10) is a Protein Coding gene. Diseases associated with NBPF10 include Neuroblastoma and Microcephaly. An important paralog of this gene is ENSG00000286185.

Additional gene information for NBPF10 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 NBPF10 Gene

Genomics for NBPF10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NBPF10 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBPF10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NBPF10

Top Transcription factor binding sites by QIAGEN in the NBPF10 gene promoter:
  • AP-4
  • AREB6
  • Elk-1
  • FOXI1
  • HFH-3
  • Pax-2
  • Pax-2a
  • Pax-2b
  • PPAR-gamma1
  • Sox5

Genomic Locations for NBPF10 Gene

Genomic Locations for NBPF10 Gene
164,302 bases
Minus strand
80,532 bases
Plus strand

Genomic View for NBPF10 Gene

Genes around NBPF10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF10 Gene

Proteins for NBPF10 Gene

  • Protein details for NBPF10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuroblastoma breakpoint family member 10
    Protein Accession:
    Secondary Accessions:
    • Q5RHC0
    • Q9NWN6

    Protein attributes for NBPF10 Gene

    841 amino acids
    Molecular mass:
    96426 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.

    Alternative splice isoforms for NBPF10 Gene


neXtProt entry for NBPF10 Gene

Post-translational modifications for NBPF10 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NBPF10 Gene

No data available for DME Specific Peptides for NBPF10 Gene

Domains & Families for NBPF10 Gene

Gene Families for NBPF10 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for NBPF10 Gene


Suggested Antigen Peptide Sequences for NBPF10 Gene

GenScript: Design optimal peptide antigens:
  • Neuroblastoma breakpoint family member 10 (NBPFA_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 NBPF10: view

Function for NBPF10 Gene

Phenotypes From GWAS Catalog for NBPF10 Gene

Gene Ontology (GO) - Molecular Function for NBPF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22681889
GO:0005112 Notch binding IBA --
genes like me logo Genes that share ontologies with NBPF10: view

Phenotypes for NBPF10 Gene

genes like me logo Genes that share phenotypes with NBPF10: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBPF10

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NBPF10 Gene

Localization for NBPF10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF10 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 NBPF10 gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for NBPF10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NBPF10: view

Pathways & Interactions for NBPF10 Gene

PathCards logo

SuperPathways for NBPF10 Gene

No Data Available

Interacting Proteins for NBPF10 Gene

Selected Interacting proteins: Q6P3W6-NBPFA_HUMAN for NBPF10 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for NBPF10 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF10 Gene

Drugs & Compounds for NBPF10 Gene

No Compound Related Data Available

Transcripts for NBPF10 Gene

mRNA/cDNA for NBPF10 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NBPF10

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF10 Gene

No ASD Table

Relevant External Links for NBPF10 Gene

GeneLoc Exon Structure for

Expression for NBPF10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NBPF10 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF10 Gene

Protein tissue co-expression partners for NBPF10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NBPF10

genes like me logo Genes that share expression patterns with NBPF10: 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 , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF10 Gene

Orthologs for NBPF10 Gene

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

Orthologs for NBPF10 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC458021 30
  • 85.69 (n)
Species where no ortholog for NBPF10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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 NBPF10 Gene

Gene Tree for NBPF10 (if available)
Gene Tree for NBPF10 (if available)

Paralogs for NBPF10 Gene

(17) SIMAP similar genes for NBPF10 Gene using alignment to 11 proteins:

  • A2BH96_HUMAN
  • I1VE12_HUMAN
  • I1VE13_HUMAN
  • I1VE14_HUMAN
  • S4R3R0_HUMAN
  • S4R3Y3_HUMAN
genes like me logo Genes that share paralogs with NBPF10: view

Variants for NBPF10 Gene

Additional dbSNP identifiers (rs#s) for NBPF10 Gene

Structural Variations from Database of Genomic Variants (DGV) for NBPF10 Gene

Variant ID Type Subtype PubMed ID
dgv18n82 CNV duplication 23825009
dgv327n100 CNV gain 25217958
dgv3n6 CNV deletion 16902084
dgv66e199 CNV deletion 23128226
esv2248028 CNV deletion 18987734
esv2667344 CNV deletion 23128226
esv2761299 CNV gain+loss 21179565
esv3540411 CNV deletion 23714750
esv3571119 CNV gain 25503493
nsv1003688 CNV gain 25217958
nsv1005055 CNV loss 25217958
nsv1075385 CNV duplication 25765185
nsv1075794 CNV duplication 25765185
nsv1076340 CNV duplication 25765185
nsv1076341 CNV duplication 25765185
nsv1076778 CNV deletion 25765185
nsv1077298 CNV duplication 25765185
nsv1077299 CNV duplication 25765185
nsv1110138 CNV duplication 24896259
nsv1118449 CNV duplication 24896259
nsv1118450 CNV duplication 24896259
nsv1124582 CNV duplication 24896259
nsv1128614 CNV duplication 24896259
nsv1132306 CNV duplication 24896259
nsv1132307 CNV duplication 24896259
nsv1132308 CNV duplication 24896259
nsv1132309 CNV duplication 24896259
nsv1146139 CNV duplication 26484159
nsv1148915 CNV duplication 26484159
nsv1151944 CNV duplication 26484159
nsv13 CNV deletion 15895083
nsv160210 CNV deletion 16902084
nsv160417 CNV deletion 16902084
nsv24 CNV insertion 15895083
nsv2677 CNV deletion 18451855
nsv2688 CNV insertion 18451855
nsv433348 CNV gain 18776910
nsv508582 CNV deletion 20534489
nsv509457 CNV insertion 20534489
nsv8091 CNV gain 18304495
nsv831337 CNV loss 17160897
nsv831348 CNV loss 17160897
nsv831359 CNV loss 17160897
nsv946760 CNV duplication 23825009
nsv946761 CNV duplication 23825009
nsv946762 CNV duplication 23825009
nsv946763 CNV duplication 23825009
nsv946764 CNV duplication 23825009
nsv946765 CNV duplication 23825009
nsv946766 CNV duplication 23825009
nsv946767 CNV duplication 23825009
nsv946768 CNV duplication 23825009
nsv946769 CNV duplication 23825009
nsv946770 CNV duplication 23825009
nsv946771 CNV duplication 23825009
nsv946772 CNV duplication 23825009
nsv946774 CNV duplication 23825009
nsv946775 CNV duplication 23825009
nsv946777 CNV duplication 23825009
nsv946778 CNV duplication 23825009
nsv946779 CNV duplication 23825009
nsv946780 CNV duplication 23825009
nsv946781 CNV duplication 23825009
nsv946782 CNV duplication 23825009
nsv946783 CNV duplication 23825009
nsv946785 CNV duplication 23825009
nsv946786 CNV duplication 23825009
nsv946787 CNV duplication 23825009
nsv946788 CNV duplication 23825009
nsv946789 CNV duplication 23825009
nsv946790 CNV duplication 23825009
nsv946791 CNV duplication 23825009
nsv946792 CNV duplication 23825009
nsv946793 CNV duplication 23825009
nsv946794 CNV duplication 23825009
nsv946795 CNV duplication 23825009
nsv946796 CNV duplication 23825009
nsv946797 CNV duplication 23825009
nsv946798 CNV duplication 23825009
nsv946799 CNV duplication 23825009
nsv946800 CNV duplication 23825009
nsv946801 CNV duplication 23825009
nsv946802 CNV duplication 23825009
nsv946803 CNV duplication 23825009
nsv946804 CNV duplication 23825009
nsv946807 CNV duplication 23825009
nsv946808 CNV duplication 23825009
nsv946813 CNV duplication 23825009
nsv946814 CNV duplication 23825009
nsv946815 CNV duplication 23825009
nsv946817 CNV duplication 23825009
nsv946818 CNV duplication 23825009
nsv946819 CNV duplication 23825009
nsv946846 CNV duplication 23825009
nsv946993 CNV duplication 23825009
nsv950946 CNV duplication 24416366
nsv952720 CNV deletion 24416366
nsv957530 CNV deletion 24416366

Variation tolerance for NBPF10 Gene

Gene Damage Index Score: 7.82; 83.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBPF10 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NBPF10 Gene

Disorders for NBPF10 Gene

MalaCards: The human disease database

(2) MalaCards diseases for NBPF10 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
  • nb
  • microcephalus
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with NBPF10: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF10 Gene

Publications for NBPF10 Gene

  1. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  2. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Bioinformatics analysis reveals disturbance mechanism of MAPK signaling pathway and cell cycle in Glioblastoma multiforme. (PMID: 24967941) Li W … Zou H (Gene 2014) 3

Products for NBPF10 Gene

Sources for NBPF10 Gene