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Aliases for NBPF22P Gene

Aliases for NBPF22P Gene

  • NBPF Member 22, Pseudogene 2 3 5
  • Neuroblastoma Breakpoint Family, Member 22, Pseudogene 2

External Ids for NBPF22P Gene

Previous GeneCards Identifiers for NBPF22P Gene

  • GC05P085618
  • GC05P080780

Summaries for NBPF22P Gene

Entrez Gene Summary for NBPF22P Gene

  • This transcribed pseudogene 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, Jun 2013]

GeneCards Summary for NBPF22P Gene

NBPF22P (NBPF Member 22, Pseudogene) is a Pseudogene. Diseases associated with NBPF22P include Neuroblastoma.

Additional gene information for NBPF22P 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 NBPF22P Gene

Genomics for NBPF22P Gene

GeneHancer (GH) Regulatory Elements for NBPF22P Gene

Top Transcription factor binding sites by QIAGEN in the NBPF22P gene promoter:

Genomic Locations for NBPF22P Gene

Genomic Locations for NBPF22P Gene
15,104 bases
Plus strand

Genomic View for NBPF22P Gene

Genes around NBPF22P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF22P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF22P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF22P Gene

Proteins for NBPF22P Gene

Post-translational modifications for NBPF22P Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF22P Gene

Domains & Families for NBPF22P Gene

Gene Families for NBPF22P Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NBPF22P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NBPF22P Gene

Function for NBPF22P Gene

Phenotypes From GWAS Catalog for NBPF22P Gene

Phenotypes for NBPF22P Gene

GenomeRNAi human phenotypes for NBPF22P:
genes like me logo Genes that share phenotypes with NBPF22P: view

Animal Model Products

Inhibitory RNA 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 NBPF22P Gene

Localization for NBPF22P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for NBPF22P Gene

Pathways & Interactions for NBPF22P Gene

SuperPathways for NBPF22P Gene

No Data Available

Interacting Proteins for NBPF22P Gene

Gene Ontology (GO) - Biological Process for NBPF22P Gene


No data available for Pathways by source and SIGNOR curated interactions for NBPF22P Gene

Drugs & Compounds for NBPF22P Gene

No Compound Related Data Available

Transcripts for NBPF22P Gene

mRNA/cDNA for NBPF22P Gene

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

Unigene Clusters for NBPF22P Gene

Neuroblastoma breakpoint family, member 22, pseudogene:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF22P Gene

No ASD Table

Relevant External Links for NBPF22P Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF22P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NBPF22P Gene

mRNA differential expression in normal tissues according to GTEx for NBPF22P Gene

This gene is overexpressed in Testis (x47.0).

NURSA nuclear receptor signaling pathways regulating expression of NBPF22P Gene:


SOURCE GeneReport for Unigene cluster for NBPF22P Gene:

genes like me logo Genes that share expression patterns with NBPF22P: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for NBPF22P Gene

Orthologs for NBPF22P Gene

Evolution for NBPF22P Gene

Gene Tree for NBPF22P (if available)
Gene Tree for NBPF22P (if available)

No data available for Orthologs for NBPF22P Gene

Paralogs for NBPF22P Gene

No data available for Paralogs for NBPF22P Gene

Variants for NBPF22P Gene

Sequence variations from dbSNP and Humsavar for NBPF22P Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000717279 -- 86,285,533(+) A/G intron_variant
rs1000958389 -- 86,292,179(+) A/G intron_variant
rs1001204455 -- 86,296,026(+) G/T intron_variant
rs1001936045 -- 86,285,249(+) T/G intron_variant
rs1001968956 -- 86,285,491(+) TCTCTCTCTCTC/TCTCTCTCTCTCTC intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NBPF22P Gene

Variant ID Type Subtype PubMed ID
nsv968960 CNV duplication 23825009
nsv598822 CNV gain 21841781
nsv462240 CNV gain 19166990
esv3890667 CNV gain 25118596
esv26737 CNV gain 19812545

Additional Variant Information for NBPF22P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NBPF22P Gene

Disorders for NBPF22P Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF22P Gene - From: GeneCards

Disorder Aliases PubMed IDs
  • neuroblastoma, susceptibility to
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NBPF22P

genes like me logo Genes that share disorders with NBPF22P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF22P Gene

Publications for NBPF22P 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 58
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  3. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3 58
  4. Next-generation sequencing to generate interactome datasets. (PMID: 21516116) Yu H … Vidal M (Nature methods 2011) 3 58
  5. 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 NBPF22P Gene

Sources for NBPF22P Gene

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