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Aliases for NBPF4 Gene

Aliases for NBPF4 Gene

  • Neuroblastoma Breakpoint Family, Member 4 2 3

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, mental retardation, 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 (Neuroblastoma Breakpoint Family, Member 4) is a Protein Coding gene. Diseases associated with NBPF4 include neuroblastoma and schizophrenia. An important paralog of this gene is NBPF3.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF4 Gene

Genomics for NBPF4 Gene

Regulatory Elements for NBPF4 Gene

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

Genomic Location for NBPF4 Gene

108,223,280 bp from pter
108,244,098 bp from pter
20,819 bases
Minus strand

Genomic View for NBPF4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NBPF4 Gene at MOPED

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 for NBPF4 Gene

Gene Families for NBPF4 Gene

Protein Domains for NBPF4 Gene


Graphical View of Domain Structure for InterPro Entry



  • Contains 3 NBPF domains.
  • Belongs to the NBPF family.
  • Contains 3 NBPF domains.
  • Belongs to the NBPF family.
genes like me logo Genes that share domains with NBPF4: view

Function for NBPF4 Gene

Phenotypes for NBPF4 Gene

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

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

Localization for NBPF4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBPF4 Gene


Subcellular locations from

Jensen Localization Image for NBPF4 Gene COMPARTMENTS Subcellular localization image for NBPF4 gene
Compartment Confidence
cytosol 2
nucleus 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

Pathways 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 for NBPF4 Gene

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:

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 for NBPF4 Gene

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

This gene is overexpressed in Testis (22.0), Brain - Putamen (basal ganglia) (5.5), and Small Intestine - Terminal Ileum (5.0).

Protein differential expression in normal tissues for NBPF4 Gene

This gene is overexpressed in Plasma (69.0).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NBPF4 Gene

SOURCE GeneReport for Unigene cluster for NBPF4 Gene Hs.511849

mRNA Expression by UniProt/SwissProt for NBPF4 Gene

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

Expression partners for NBPF4 Gene

* - Elite partner

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
(Bos Taurus)
Mammalia LOC101903302 35
  • 64.66 (n)
  • 46.91 (a)
-- 36
  • 35 (a)
-- 36
  • 40 (a)
(Pan troglodytes)
Mammalia LOC740049 35
  • 97.91 (n)
  • 95.97 (a)
-- 36
  • 94 (a)
(Canis familiaris)
Mammalia -- 36
  • 40 (a)
Species with no ortholog for NBPF4:
  • 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

Paralogs for NBPF4 Gene

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

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 Sequence Context AA Info Type MAF
rs981094 -- 108,234,596(-) ctctt(C/T)ccctc intron-variant
rs1318551 -- 108,243,899(-) TCAAC(C/T)GTAAG utr-variant-5-prime, missense, reference
rs1419014 -- 108,242,231(+) AGACA(C/G)TGACC intron-variant
rs1419015 -- 108,242,059(-) CCCCA(C/T)TGGGG intron-variant
rs1891694 -- 108,238,818(-) GAAGT(C/T)GACTC reference, synonymous-codon, intron-variant

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

Variant ID Type Subtype PubMed ID
dgv83e1 CNV Complex 17122850
nsv428179 CNV Gain 18775914
dgv84e1 CNV Complex 17122850
nsv526757 CNV Loss 19592680
esv23343 CNV Gain+Loss 19812545
nsv10550 CNV Loss 18304495
nsv821352 CNV Deletion 20802225

Relevant External Links for NBPF4 Gene

HapMap Linkage Disequilibrium report

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

Disorders for NBPF4 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NBPF4 Gene in MalaCards »

(2) Diseases for NBPF4 Gene

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

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships , Genatlas and External Links 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. (Mol. Biol. Evol. 2005) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 4

Products for NBPF4 Gene

Sources for NBPF4 Gene

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