External References:
Wikipedia
GeneCards
HUGO
COSMIC
Google Scholar
NCBI Description of NBPF3 |
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, 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. |
Community Annotation of NBPF3 Add / Edit NBPF3: Annotations
No community annotations yet for NBPF3.
|
Figure notes
• "Mouse over" a mutation to see details. |
|
Click on a tumor type to see its full list of significant genes.
Data details