This 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 charact... See more...

Aliases for NBPF2P Gene

Aliases for NBPF2P Gene

  • NBPF Member 2, Pseudogene 2 3 5
  • Neuroblastoma Breakpoint Family, Member 2, Pseudogene 2
  • Neuroblastoma Breakpoint Family Member 2, Pseudogene 3
  • Neuroblastoma Breakpoint Family, Member 3 Pseudogene 3
  • NBPF2P 5

External Ids for NBPF2P Gene

Previous GeneCards Identifiers for NBPF2P Gene

  • GC01M021484
  • GC01M021622
  • GC01M021749

Summaries for NBPF2P Gene

Entrez Gene Summary for NBPF2P Gene

  • This 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, Apr 2013]

GeneCards Summary for NBPF2P Gene

NBPF2P (NBPF Member 2, Pseudogene) is a Pseudogene. Diseases associated with NBPF2P include Neuroblastoma.

Additional gene information for NBPF2P Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NBPF2P Gene

Genomics for NBPF2P Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NBPF2P Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NBPF2P on the GeneHancer Hub at the UCSC Golden Path

Genomic Locations for NBPF2P Gene

Genomic Locations for NBPF2P Gene
chr1:21,423,108-21,427,967
(GRCh38/hg38)
Size:
4,860 bases
Orientation:
Minus strand
chr1:21,749,601-21,754,460
(GRCh37/hg19)
Size:
4,860 bases
Orientation:
Minus strand

Genomic View for NBPF2P Gene

Genes around NBPF2P on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBPF2P Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBPF2P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF2P Gene

Proteins for NBPF2P Gene

Post-translational modifications for NBPF2P Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF2P Gene

Domains & Families for NBPF2P Gene

Gene Families for NBPF2P Gene

HGNC:
genes like me logo Genes that share domains with NBPF2P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NBPF2P Gene

Function for NBPF2P Gene

Phenotypes From GWAS Catalog for NBPF2P Gene

Animal Model Products

CRISPR Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for NBPF2P Gene

Localization for NBPF2P 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 NBPF2P Gene

Pathways & Interactions for NBPF2P Gene

PathCards logo

SuperPathways for NBPF2P Gene

No Data Available

Gene Ontology (GO) - Biological Process for NBPF2P Gene

None

No data available for Pathways by source , Interacting Proteins and SIGNOR curated interactions for NBPF2P Gene

Drugs & Compounds for NBPF2P Gene

No Compound Related Data Available

Transcripts for NBPF2P Gene

mRNA/cDNA for NBPF2P Gene

1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF2P Gene

No ASD Table

Relevant External Links for NBPF2P Gene

GeneLoc Exon Structure for
NBPF2P

Expression for NBPF2P Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NBPF2P Gene

mRNA differential expression in normal tissues according to GTEx for NBPF2P Gene

This gene is overexpressed in Testis (x4.1).
genes like me logo Genes that share expression patterns with NBPF2P: view

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 NBPF2P Gene

Orthologs for NBPF2P Gene

Evolution for NBPF2P Gene

ENSEMBL:
Gene Tree for NBPF2P (if available)
TreeFam:
Gene Tree for NBPF2P (if available)

No data available for Orthologs for NBPF2P Gene

Paralogs for NBPF2P Gene

No data available for Paralogs for NBPF2P Gene

Variants for NBPF2P Gene

Additional Variant Information for NBPF2P Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBPF2P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP , Additional dbSNP identifiers (rs#s) , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for NBPF2P Gene

Disorders for NBPF2P Gene

MalaCards: The human disease database

(1) MalaCards diseases for NBPF2P Gene - From: GeneCards

Disorder Aliases PubMed IDs
neuroblastoma
  • nb
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for NBPF2P

genes like me logo Genes that share disorders with NBPF2P: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBPF2P Gene

Publications for NBPF2P 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
  2. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness MS … Sikela JM (G3 (Bethesda, Md.) 2012) 3

Products for NBPF2P Gene

Sources for NBPF2P Gene