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Tdark
NBPF3
Neuroblastoma breakpoint family member 3

Protein Summary
Description
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. DUF1220 copy number variations in 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, Feb 2013]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000318249
  • ENSP00000316782
  • ENSG00000142794
  • ENST00000342104
  • ENSP00000340336
  • ENST00000454000
  • ENSP00000415711
  • ENST00000619554
  • ENSP00000484028

Symbol
  • AE2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
virus perturbation
0.98
microRNA
0.89
trait
0.61
histone modification site profile
0.59
cell line
0.58


Protein Classes
No PANTHER Classes or DTO Classes found
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2.34   (req: < 5)
Gene RIFs: 2   (req: <= 3)
Antibodies: 44   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 2.34   (req: >= 5)
Gene RIFs: 2   (req: > 3)
Antibodies: 44   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Term: 0
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0