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Aliases for NBPF4 Gene

Aliases for NBPF4 Gene

  • Neuroblastoma Breakpoint Family 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, 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. An important paralog of this gene is NBPF14.

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

Chromosome:
1
Start:
108,222,464 bp from pter
End:
108,244,081 bp from pter
Size:
21,618 bases
Orientation:
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:
    Q96M43-NBPF4_HUMAN
    Recommended name:
    Neuroblastoma breakpoint family member 4
    Protein Accession:
    Q96M43
    Secondary Accessions:
    • Q5T483

    Protein attributes for NBPF4 Gene

    Size:
    638 amino acids
    Molecular mass:
    72053 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Encoded by one of the numerous copies of NBPF genes clustered in the p36, p12 and q21 region of the chromosome 1.
    SequenceCaution:
    • 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 & Families for NBPF4 Gene

Gene Families for NBPF4 Gene

Protein Domains for NBPF4 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q96M43

UniProtKB/Swiss-Prot:

NBPF4_HUMAN :
  • Contains 3 NBPF domains.
  • Belongs to the NBPF family.
Domain:
  • Contains 3 NBPF domains.
Family:
  • 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

Animal Model 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

Cytoplasm.

Subcellular locations from

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

No data available for Gene Ontology (GO) - Cellular Components 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

None

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:

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

No ASD Table

Relevant External Links for NBPF4 Gene

GeneLoc Exon Structure for
NBPF4
ECgene alternative splicing isoforms for
NBPF4

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 (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



SOURCE GeneReport for Unigene cluster for NBPF4 Gene Hs.511849

mRNA Expression by UniProt/SwissProt for NBPF4 Gene

Q96M43-NBPF4_HUMAN
Tissue specificity: Expressed in testis.
genes like me logo Genes that share expression patterns with NBPF4: view

Protein tissue co-expression partners for NBPF4 Gene

- Elite partner

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia LOC740049 35
  • 97.91 (n)
  • 95.97 (a)
-- 36
  • 94 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 35 (a)
ManyToMany
-- 36
  • 40 (a)
ManyToMany
LOC101903302 35
  • 64.66 (n)
  • 46.91 (a)
dog
(Canis familiaris)
Mammalia -- 36
  • 40 (a)
OneToMany
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

ENSEMBL:
Gene Tree for NBPF4 (if available)
TreeFam:
Gene Tree for NBPF4 (if available)

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
rs704333 -- 108,227,012(-) CCCTC(A/G)CCCTT intron-variant
rs893998 -- 108,241,435(-) AAGCA(C/G)TCTCT intron-variant
rs981092 -- 108,235,050(-) CTTCT(C/T)AAGTT intron-variant
rs981093 -- 108,234,720(-) GTTAT(A/G)GGACA intron-variant
rs981094 -- 108,234,596(-) ctctt(C/T)ccctc 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

Variation tolerance for NBPF4 Gene

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

Relevant External Links for NBPF4 Gene

HapMap Linkage Disequilibrium report
NBPF4

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
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards
Search NBPF4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for NBPF4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Biol. Evol. 2005) 2 3 4 67
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  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

Products for NBPF4 Gene

Sources for NBPF4 Gene

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