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Aliases for NBPF8 Gene

Aliases for NBPF8 Gene

  • NBPF Member 8 2 3 5
  • Neuroblastoma Breakpoint Family, Member 8, Pseudogene 2 3
  • NBPF8P 3 4
  • Putative Neuroblastoma Breakpoint Family Member 8 3
  • Neuroblastoma Breakpoint Family Member 8 3

External Ids for NBPF8 Gene

Previous HGNC Symbols for NBPF8 Gene

  • NBPF8P

Previous GeneCards Identifiers for NBPF8 Gene

  • GC01U901189
  • GC01M144745
  • GC01P142861
  • GC01P143315
  • GC01P144147
  • GC01P144150
  • GC01P144154
  • GC01P144166
  • GC01P144172
  • GC01P144178

Summaries for NBPF8 Gene

Entrez Gene Summary for NBPF8 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, Apr 2013]

GeneCards Summary for NBPF8 Gene

NBPF8 (NBPF Member 8) is a Protein Coding gene. Diseases associated with NBPF8 include Neuroblastoma. An important paralog of this gene is NBPF15.

Additional gene information for NBPF8 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 NBPF8 Gene

Genomics for NBPF8 Gene

GeneHancer (GH) Regulatory Elements for NBPF8 Gene

Promoters and enhancers for NBPF8 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
GH01I120414 Enhancer 1 Ensembl 550.8 -1.0 -994 2.8 HDGF ATF1 SIN3A GLI4 ZNF2 POLR2B ZNF213 ARID2 ZNF143 KLF7 NBPF8 LOC101929788
GH01I120393 Enhancer 0.5 Ensembl 0.3 -22.6 -22614 1.2 ZNF335 CTCF ZFHX2 RFX1 EGR1 PRDM10 EGR2 LOC101929788 NBPF8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF8 on UCSC Golden Path with GeneCards custom track

Genomic Locations for NBPF8 Gene

Genomic Locations for NBPF8 Gene
51,250 bases
Plus strand

Genomic View for NBPF8 Gene

Genes around NBPF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF8 Gene

Proteins for NBPF8 Gene

  • Protein details for NBPF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Putative neuroblastoma breakpoint family member 8
    Protein Accession:

    Protein attributes for NBPF8 Gene

    869 amino acids
    Molecular mass:
    99215 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 NBPF8 Gene

Post-translational modifications for NBPF8 Gene

No Post-translational modifications

Other Protein References for NBPF8 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for NBPF8 Gene

Domains & Families for NBPF8 Gene

Gene Families for NBPF8 Gene

Protein Domains for NBPF8 Gene


Suggested Antigen Peptide Sequences for NBPF8 Gene

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 NBPF8: view

Function for NBPF8 Gene

Phenotypes for NBPF8 Gene

GenomeRNAi human phenotypes for NBPF8:
genes like me logo Genes that share phenotypes with NBPF8: view

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 NBPF8 Gene

Localization for NBPF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF8 Gene


Gene Ontology (GO) - Cellular Components for NBPF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF8: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for NBPF8 Gene

Pathways & Interactions for NBPF8 Gene

SuperPathways for NBPF8 Gene

No Data Available

Interacting Proteins for NBPF8 Gene

Selected Interacting proteins: Q3BBV2-NBPF8_HUMAN for NBPF8 Gene via IID

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for NBPF8 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF8 Gene

Drugs & Compounds for NBPF8 Gene

No Compound Related Data Available

Transcripts for NBPF8 Gene

mRNA/cDNA for NBPF8 Gene

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

Unigene Clusters for NBPF8 Gene

Neuroblastoma breakpoint family, member 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6
SP2: - - - -

Relevant External Links for NBPF8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF8 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF8 Gene

Protein tissue co-expression partners for NBPF8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NBPF8 Gene:


SOURCE GeneReport for Unigene cluster for NBPF8 Gene:


mRNA Expression by UniProt/SwissProt for NBPF8 Gene:

Tissue specificity: Expressed in the mammary gland.
genes like me logo Genes that share expression patterns with NBPF8: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF8 Gene

Orthologs for NBPF8 Gene

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

Orthologs for NBPF8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC458021 33
  • 90.11 (n)
Species where no ortholog for NBPF8 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 NBPF8 Gene

Gene Tree for NBPF8 (if available)
Gene Tree for NBPF8 (if available)

Paralogs for NBPF8 Gene

Paralogs for NBPF8 Gene

genes like me logo Genes that share paralogs with NBPF8: view

Variants for NBPF8 Gene

Sequence variations from dbSNP and Humsavar for NBPF8 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs111214339 -- 120,448,252(+) C/A intron_variant
rs111256803 -- 120,450,471(+) A/T intron_variant
rs111537918 -- 120,448,635(+) G/A intron_variant
rs111706278 -- 120,451,563(+) A/T intron_variant
rs111748892 -- 120,460,035(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF8 Gene

Variant ID Type Subtype PubMed ID
nsv524681 CNV gain 19592680

Additional Variant Information for NBPF8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF8 Gene

Disorders for NBPF8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search NBPF8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NBPF8

genes like me logo Genes that share disorders with NBPF8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF8 Gene

Publications for NBPF8 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. 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
  3. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness MS … Sikela JM (G3 (Bethesda, Md.) 2012) 3 58
  4. DUF1220-domain copy number implicated in human brain-size pathology and evolution. (PMID: 22901949) Dumas LJ … Sikela JM (American journal of human genetics 2012) 3 58
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58

Products for NBPF8 Gene

Sources for NBPF8 Gene

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