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Neuroblastoma breakpoint family member 2, pseudogene (NBPF2P)
- Target
- NBPF2P
- Molecular classification
- Pseudogene, Segmental duplication family member, Neuroblastoma breakpoint family (NBPF)
01
Overview
NBPF2P is a non-protein-coding pseudogene belonging to the neuroblastoma breakpoint family (NBPF), found on human chromosome 1. It arose as a partial duplication of NBPF3. While the NBPF family contains many pseudogenes and is characterized by the presence of DUF1220 protein domains, NBPF2P itself does not encode a functional protein. Copy number variation in NBPF family genes, especially in regions containing DUF1220 domains, has been associated with several neurodevelopmental and genetic diseases, but NBPF2P is not a direct functional contributor. Some pseudogenes may be expressed as RNA and participate in gene regulation, but no specific function has been ascribed to NBPF2P[1][2][3][4].
- Other names
- NBPF member 2, pseudogeneNBPF2PGC01M021484GC01M021622GC01M021749
02
Biological functions
None identified as a protein; typical pseudogene functions may include noncoding RNA regulation, gene expression regulation, or functioning as microRNA decoysPossible involvement in regulatory RNA mechanisms or copy number variation effects, but no confirmed protein function
03
Disease associations
Associated copy number variations in the NBPF family have been linked to: NeuroblastomaMicrocephalyAutismSchizophreniaCognitive disabilityCongenital heart diseaseCongenital kidney and urinary tract anomalies
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