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Aliases for NBPF2P Gene

Aliases for NBPF2P Gene

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

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 , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF2P Gene

Genomics for NBPF2P Gene

GeneHancer (GH) Regulatory Elements for NBPF2P Gene

Promoters and enhancers for NBPF2P Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I021428 Promoter 1 UCNEbase Ensembl 559.2 -0.4 -436 0.8 EZH2 NBPF2P HS6ST1P1 NBPF3 CROCCP5
GH01I021331 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 51.3 +88.8 88781 15.2 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF416 ECE1 HP1BP3 NBPF3 USP48 NBPF2P CDC42-IT1 LDLRAD2 ENSG00000236936 HSPG2 MUL1
GH01I021439 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 35.6 -12.3 -12265 1.9 PKNOX1 ARID4B SIN3A ZNF48 YY1 GLIS2 ATF7 REST ETV4 HMBOX1 NBPF3 NBPF2P ZBTB40 CDC42-IT1 DDOST ENSG00000271428 HP1BP3 PIR56533
GH01I022051 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.8 -625.3 -625340 3.1 HDGF PKNOX1 SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 CDC42 LOC105376841 LINC00339 ZBTB40 KDM1A CDC42-IT1 NBPF3 USP48 NBPF2P ENSG00000271428
GH01I020474 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.7 +946.9 946886 13.8 MLX DMAP1 YY1 SLC30A9 ZNF213 ZNF143 ZNF548 SP3 NFYC ZFP41 CAMK2N1 ENSG00000284743 HP1BP3 DDOST OTUD3 MUL1 FAM43B NBPF2P ENSG00000284641
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NBPF2P on UCSC Golden Path with GeneCards custom track

Genomic Locations for NBPF2P Gene

Genomic Locations for NBPF2P Gene
4,860 bases
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

Graphical View of Domain Structure for InterPro Entry

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

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NBPF2P Gene

Function for NBPF2P Gene

Phenotypes From GWAS Catalog for NBPF2P Gene

Animal Model Products

Clone 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

SuperPathways for NBPF2P Gene

No Data Available

Interacting Proteins for NBPF2P Gene

Gene Ontology (GO) - Biological Process for NBPF2P Gene


No data available for Pathways by source 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

(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

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

No ASD Table

Relevant External Links for NBPF2P Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NBPF2P Gene

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

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

This gene is overexpressed in Testis (x4.1).

NURSA nuclear receptor signaling pathways regulating expression of NBPF2P Gene:

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

Gene Tree for NBPF2P (if available)
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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar , 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, susceptibility to
- 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 58
  2. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness MS … Sikela JM (G3 (Bethesda, Md.) 2012) 3 58

Products for NBPF2P Gene

Sources for NBPF2P Gene

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