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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.

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

Chromosome:
5
Start:
86,282,444 bp from pter
End:
86,297,547 bp from pter
Size:
15,104 bases
Orientation:
Plus strand

Genomic View for NBPF22P Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene 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 for NBPF22P Gene

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

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 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

None

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:

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

No ASD Table

Relevant External Links for NBPF22P Gene

GeneLoc Exon Structure for
NBPF22P
ECgene alternative splicing isoforms for
NBPF22P

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 (x47.0).

SOURCE GeneReport for Unigene cluster for NBPF22P Gene Hs.449272

genes like me logo Genes that share expression patterns 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 Protein tissue co-expression partners for NBPF22P Gene

Orthologs for NBPF22P Gene

Evolution for NBPF22P Gene

ENSEMBL:
Gene Tree for NBPF22P (if available)
TreeFam:
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

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
NBPF22P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar 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
  • neuroblastoma 1
- elite association

Relevant External Links for NBPF22P

Genetic Association Database (GAD)
NBPF22P
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Biol. Evol. 2005) 2 67
  2. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 67
  3. 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) 67
  4. 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) 67
  5. The sequence of the human genome. (PMID: 11181995) Venter J.C. … Zhu X. (Science 2001) 67

Products for NBPF22P Gene

Sources for NBPF22P Gene

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