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Aliases for NBPF17P Gene

Aliases for NBPF17P Gene

  • Neuroblastoma Breakpoint Family, Member 17, Pseudogene 2 3
  • Neuroblastoma Breakpoint Family, Member 23, Pseudogene 2 3
  • NBPF23 3 6
  • Neuroblastoma Breakpoint Family, Member 17 (Pseudogene) 3
  • Neuroblastoma Breakpoint Family, Member 23 2
  • NBPF23P 3

External Ids for NBPF17P Gene

Previous HGNC Symbols for NBPF17P Gene

  • NBPF23P
  • NBPF23

Previous GeneCards Identifiers for NBPF17P Gene

  • GC01U901193
  • GC01M147292
  • GC01M149025

Summaries for NBPF17P Gene

Entrez Gene Summary for NBPF17P Gene

  • This gene 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 2014]

GeneCards Summary for NBPF17P Gene

NBPF17P (Neuroblastoma Breakpoint Family, Member 17, Pseudogene) is a Pseudogene. Diseases associated with NBPF17P include neuroblastoma.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBPF17P Gene

Genomics for NBPF17P Gene

Genomic Location for NBPF17P Gene

Start:
143,595,116 bp from pter
End:
143,635,641 bp from pter
Size:
40,526 bases
Orientation:
Minus strand

Genomic View for NBPF17P Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBPF17P Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBPF17P Gene

No data available for Regulatory Elements for NBPF17P Gene

Proteins for NBPF17P Gene

Post-translational modifications for NBPF17P Gene

No Post-translational modifications

No data available for DME Specific Peptides for NBPF17P Gene

Domains for NBPF17P Gene

Gene Families for NBPF17P Gene

HGNC:
  • NBPF :neuroblastoma breakpoint family

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NBPF17P: view

No data available for Protein Domains , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for NBPF17P Gene

Function for NBPF17P Gene

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NBPF17P Gene

Localization for NBPF17P Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for NBPF17P Gene

Pathways for NBPF17P Gene

SuperPathways for NBPF17P Gene

No Data Available

Interacting Proteins for NBPF17P Gene

Gene Ontology (GO) - Biological Process for NBPF17P Gene

None

No data available for Pathways by source for NBPF17P Gene

Transcripts for NBPF17P Gene

mRNA/cDNA for NBPF17P Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for NBPF17P Gene

No ASD Table

Relevant External Links for NBPF17P Gene

GeneLoc Exon Structure for
NBPF17P
ECgene alternative splicing isoforms for
NBPF17P

Expression for NBPF17P Gene

mRNA expression in normal human tissues for NBPF17P Gene

genes like me logo Genes that share expressions with NBPF17P: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein expression and mRNA Expression by UniProt/SwissProt for NBPF17P Gene

Orthologs for NBPF17P Gene

Evolution for NBPF17P Gene

ENSEMBL:
Gene Tree for NBPF17P (if available)
TreeFam:
Gene Tree for NBPF17P (if available)

No data available for Orthologs for NBPF17P Gene

Paralogs for NBPF17P Gene

No data available for Paralogs for NBPF17P Gene

Variants for NBPF17P Gene

Relevant External Links for NBPF17P Gene

HapMap Linkage Disequilibrium report
NBPF17P
Human Gene Mutation Database (HGMD)
NBPF17P

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations from dbSNP and Humsavar and Structural Variations from Database of Genomic Variants (DGV) for NBPF17P Gene

Disorders for NBPF17P Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for NBPF17P Gene including...

Search for NBPF17P Gene in MalaCards »
genes like me logo Genes that share disorders with NBPF17P: view

No data available for UniProtKB/Swiss-Prot for NBPF17P Gene

Publications for NBPF17P 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. Copy number variation at 1q21.1 associated with neuroblastoma. (PMID: 19536264) Diskin S.J. … Maris J.M. (Nature 2009) 3

Products for NBPF17P Gene

Sources for NBPF17P Gene

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