|HGNC Family||Neuroblastoma breakpoint family (NBPF)|
|Name||neuroblastoma breakpoint family, member 2, pseudogene|
|Description||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]|
|NCBI Gene ID||343381|
|Expression in Tissues and Cell Lines||
NBPF2P has 458 functional associations with biological entities spanning 1 categories (cell line, cell type or tissue) extracted from 2 datasets.
Click the + buttons to view associations for NBPF2P from the datasets below.
If available, associations are ranked by standardized value
|GTEx Tissue Gene Expression Profiles||tissues with high or low expression of NBPF2P gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.|
|GTEx Tissue Sample Gene Expression Profiles||tissue samples with high or low expression of NBPF2P gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.|