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Aliases for NBPF2P Gene

Aliases for NBPF2P Gene

  • Neuroblastoma Breakpoint Family 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, 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, Apr 2013]

GeneCards Summary for NBPF2P Gene

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

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF2P Gene

Genomics for NBPF2P Gene

Regulatory Elements for NBPF2P Gene

Enhancers for NBPF2P Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F021439 0.7 ENCODE 35.6 -12.2 -12245 1.9 HDAC1 ZNF76 KLF17 ARID4B SIN3A ZNF48 ZEB1 GLIS2 ZNF366 SCRT2 NBPF3 NBPF2P CDC42-IT1 DDOST ENSG00000271428 PIR56533
GH01F021822 0.7 Ensembl 22.2 -395.7 -395661 3.1 KLF1 ZFP64 ZNF140 ZNF266 ZNF101 ZNF664 POLR2A SCRT2 ZNF433 SCRT1 NBPF2P HSPG2 LDLRAD2 GC01P021842
GH01F021336 1.3 FANTOM5 ENCODE 16.2 +86.2 86218 10.0 MLX CREB3L1 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF263 MCM3 SP3 ECE1 NBPF2P ENSG00000236936 CDC42-IT1 EIF4G3 ALPL LOC100506801
GH01F021590 0.4 Ensembl 14.1 -162.8 -162834 0.8 ATF1 PKNOX1 ARNT ZFP64 ZNF766 GATA2 NCOA1 REST ZNF623 ZNF518A NBPF2P RAP1GAP USP48 LOC105376834 PIR35545
GH01F021774 1.2 Ensembl ENCODE 14.1 -347.6 -347635 1.6 ATF1 ZFP64 ARID4B SP5 MXD4 REST PPARG ZNF518A ZNF623 ZNF264 USP48 NBPF2P CDC42-IT1 ZBTB40-IT1 ENSG00000271428 ENSG00000231978
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NBPF2P on UCSC Golden Path with GeneCards custom track

Promoters for NBPF2P Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001742487 -533 1000 GLIS1 PBX2 EZH2

Genomic Location for NBPF2P Gene

Chromosome:
1
Start:
21,423,108 bp from pter
End:
21,427,967 bp from pter
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

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

Animal Model 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 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

None

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

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 :

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

No ASD Table

Relevant External Links for NBPF2P Gene

GeneLoc Exon Structure for
NBPF2P
ECgene alternative splicing isoforms 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).

NURSA nuclear receptor signaling pathways regulating expression of NBPF2P Gene:

NBPF2P
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 and mRNA Expression by UniProt/SwissProt 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

Relevant External Links 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 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
  • neuroblastoma 1
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NBPF2P

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Mol. Biol. Evol. 2005) 2 3 64
  2. Evolutionary history and genome organization of DUF1220 protein domains. (PMID: 22973535) O'Bleness M.S. … Sikela J.M. (G3 (Bethesda) 2012) 3 64

Products for NBPF2P Gene

Sources for NBPF2P Gene

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