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Aliases for NBPF4 Gene

Aliases for NBPF4 Gene

  • NBPF Member 4 2 3 5
  • Neuroblastoma Breakpoint Family, Member 4 2

External Ids for NBPF4 Gene

Previous GeneCards Identifiers for NBPF4 Gene

  • GC01M108478
  • GC01M108765
  • GC01M106711

Summaries for NBPF4 Gene

Entrez Gene Summary for NBPF4 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, Mar 2013]

GeneCards Summary for NBPF4 Gene

NBPF4 (NBPF Member 4) is a Protein Coding gene. Diseases associated with NBPF4 include Neuroblastoma. An important paralog of this gene is NBPF6.

Additional gene information for NBPF4 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 NBPF4 Gene

Genomics for NBPF4 Gene

GeneHancer (GH) Regulatory Elements for NBPF4 Gene

Promoters and enhancers for NBPF4 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
GH01I108244 Promoter 0.5 EPDnew 550.8 +0.0 5 0.1 GC01P108246 GC01P108247 GC01P108255 GC01P108256 PIR46368 NBPF4 PIR31794 PIR58927
GH01I108272 Promoter 0.5 Ensembl 0.3 -28.8 -28820 0.6 ENSG00000238122 GC01M108268 SLC25A24P1 NBPF4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NBPF4 gene promoter:

Genomic Locations for NBPF4 Gene

Genomic Locations for NBPF4 Gene
21,618 bases
Minus strand

Genomic View for NBPF4 Gene

Genes around NBPF4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF4 Gene

Proteins for NBPF4 Gene

  • Protein details for NBPF4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neuroblastoma breakpoint family member 4
    Protein Accession:
    Secondary Accessions:
    • Q5T483

    Protein attributes for NBPF4 Gene

    638 amino acids
    Molecular mass:
    72053 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=BAB71469.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305};

neXtProt entry for NBPF4 Gene

Post-translational modifications for NBPF4 Gene

No Post-translational modifications

Other Protein References for NBPF4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NBPF4 Gene

Domains & Families for NBPF4 Gene

Gene Families for NBPF4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for NBPF4 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 NBPF4: view

Function for NBPF4 Gene

Phenotypes From GWAS Catalog for NBPF4 Gene

Phenotypes for NBPF4 Gene

GenomeRNAi human phenotypes for NBPF4:
genes like me logo Genes that share phenotypes with NBPF4: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF4 Gene

Localization for NBPF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF4 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 NBPF4 gene
Compartment Confidence
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for NBPF4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NBPF4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NBPF4 Gene

Pathways & Interactions for NBPF4 Gene

SuperPathways for NBPF4 Gene

No Data Available

Interacting Proteins for NBPF4 Gene

Gene Ontology (GO) - Biological Process for NBPF4 Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF4 Gene

Drugs & Compounds for NBPF4 Gene

No Compound Related Data Available

Transcripts for NBPF4 Gene

mRNA/cDNA for NBPF4 Gene

(3) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NBPF4 Gene

Neuroblastoma breakpoint family, member 4:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF4 Gene

No ASD Table

Relevant External Links for NBPF4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF4 Gene

mRNA differential expression in normal tissues according to GTEx for NBPF4 Gene

This gene is overexpressed in Testis (x22.0), Brain - Putamen (basal ganglia) (x5.5), and Small Intestine - Terminal Ileum (x5.0).

Protein differential expression in normal tissues from HIPED for NBPF4 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NBPF4 Gene

Protein tissue co-expression partners for NBPF4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NBPF4 Gene:


SOURCE GeneReport for Unigene cluster for NBPF4 Gene:


mRNA Expression by UniProt/SwissProt for NBPF4 Gene:

Tissue specificity: Expressed in testis.
genes like me logo Genes that share expression patterns with NBPF4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF4 Gene

Orthologs for NBPF4 Gene

This gene was present in the common ancestor of mammals.

Orthologs for NBPF4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC740049 33
  • 97.91 (n)
-- 34
  • 94 (a)
(Bos Taurus)
Mammalia LOC101903302 33
  • 64.66 (n)
-- 34
  • 40 (a)
-- 34
  • 35 (a)
(Canis familiaris)
Mammalia -- 34
  • 40 (a)
Species where no ortholog for NBPF4 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)
  • 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 NBPF4 Gene

Gene Tree for NBPF4 (if available)
Gene Tree for NBPF4 (if available)

Paralogs for NBPF4 Gene

(17) SIMAP similar genes for NBPF4 Gene using alignment to 2 proteins: Pseudogenes for NBPF4 Gene

genes like me logo Genes that share paralogs with NBPF4: view

Variants for NBPF4 Gene

Sequence variations from dbSNP and Humsavar for NBPF4 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1000115496 -- 108,235,943(-) G/T intron_variant
rs1000529647 -- 108,241,815(-) T/C intron_variant
rs1001557697 -- 108,223,556(-) G/T 3_prime_UTR_variant
rs1001902875 -- 108,222,483(-) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1002659846 -- 108,226,484(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF4 Gene

Variant ID Type Subtype PubMed ID
nsv946119 CNV duplication 23825009
nsv821352 CNV deletion 20802225
nsv526757 CNV loss 19592680
nsv428179 CNV gain 18775914
nsv1149603 CNV duplication 26484159
nsv1124570 CNV duplication 24896259
nsv10550 CNV loss 18304495
nsv1004890 CNV loss 25217958
esv3578071 CNV loss 25503493
esv2763802 CNV loss 21179565
esv2758958 CNV gain+loss 17122850
esv23343 CNV gain+loss 19812545
dgv75e212 CNV gain 25503493
dgv74e212 CNV loss 25503493
dgv481n54 CNV loss 21841781
dgv469n54 CNV gain 21841781
dgv248n100 CNV gain 25217958

Variation tolerance for NBPF4 Gene

Gene Damage Index Score: 0.94; 19.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NBPF4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBPF4 Gene

Disorders for NBPF4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF4 Gene - From: GeneCards

Disorder Aliases PubMed IDs
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search NBPF4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NBPF4

genes like me logo Genes that share disorders with NBPF4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF4 Gene

Publications for NBPF4 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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for NBPF4 Gene

Sources for NBPF4 Gene

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