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Aliases for NBPF22P Gene

Aliases for NBPF22P Gene

  • Neuroblastoma Breakpoint Family, Member 22, Pseudogene 2 3

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, 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, Jun 2013]

GeneCards Summary for NBPF22P Gene

NBPF22P (Neuroblastoma Breakpoint Family, Member 22, Pseudogene) is a Pseudogene. Diseases associated with NBPF22P include neuroblastoma and schizophrenia.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF22P Gene

Genomics for NBPF22P Gene

Regulatory Elements for NBPF22P Gene

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

Genomic Location for NBPF22P Gene

86,282,444 bp from pter
86,297,547 bp from pter
15,104 bases
Plus strand

Genomic View for NBPF22P Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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 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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF22P Gene

Localization for NBPF22P Gene

Subcellular locations from

Jensen Localization Image for NBPF22P Gene COMPARTMENTS Subcellular localization image for NBPF22P gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for NBPF22P Gene

Pathways 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 for NBPF22P Gene

Transcripts for NBPF22P Gene

mRNA/cDNA for NBPF22P Gene

(2) Selected AceView cDNA sequences:
(2) Additional mRNA 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:

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 for NBPF22P Gene

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

This gene is overexpressed in Testis (47.0).

SOURCE GeneReport for Unigene cluster for NBPF22P Gene Hs.449272

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

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 , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Expression partners 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 Sequence Context AA Info Type MAF
rs893989 -- 86,287,398(+) ACTGA(C/T)GCTAA intron-variant
rs2964824 -- 86,280,971(+) ATTTA(C/T)TGAAT upstream-variant-2KB
rs2964825 -- 86,281,087(+) aacct(A/G)cagtt upstream-variant-2KB
rs2964826 -- 86,281,731(+) AGATA(C/G)ATGGT upstream-variant-2KB
rs2964827 -- 86,281,841(+) TGAAA(C/T)GAGTG upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv462240 CNV Gain 19166990
nsv882334 CNV Gain 21882294
esv26737 CNV Gain 19812545
dgv6215n71 CNV Loss 21882294

Relevant External Links for NBPF22P Gene

HapMap Linkage Disequilibrium report

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

Disorders for NBPF22P Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NBPF22P Gene in MalaCards »

(2) Diseases for NBPF22P Gene

Relevant External Links for NBPF22P

Genetic Association Database (GAD)
genes like me logo Genes that share disorders with NBPF22P: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES , Novoseek inferred disease relationships 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. (Mol. Biol. Evol. 2005) 2 3
  2. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie A.G. … Butte N.F. (PLoS ONE 2012) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 3
  5. 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 NBPF22P Gene

Sources for NBPF22P Gene

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