Target intelligence / Profile preview

Neuroblastoma breakpoint family member 12 (NBPF12)

Target
NBPF12
Molecular classification
Other (NBPF family member, protein coding gene), Segmental duplication gene, Contains DUF1220 protein domains
01

Overview

Neuroblastoma breakpoint family member 12 is a member of the NBPF gene family, characterized by recent expansion within the primate lineage, especially humans, and by tandem repeats of the DUF1220 protein domain[3][7]. NBPF family members are primarily located in segmental duplications on chromosome 1q21.1, a chromosomal region frequently amplified in various aggressive tumors and implicated in several developmental and neurogenetic disorders. Copy number variations affecting NBPF12 and related family members have been associated with diseases such as autism, schizophrenia, neuroblastoma, and congenital anomalies. NBPF12 is not a classic receptor, enzyme, transporter, or transcription factor, but its genetic dosage and transcriptional activity contribute to important cellular and developmental processes. It is not currently a direct drug target, though the NBPF gene family plays a putative role in disease pathogenesis[1][3][4][7].

Other names
NBPF member 12NBPF12COAS1KIAA1245Chromosome 1 amplified sequence 1Neuroblastoma breakpoint family member 12chromosome one amplified sequence 1chromosome 1 amplified sequence 1
02

Biological functions

Likely involved in protein folding (based on predicted interactions with cyclophilin-type PPIase family proteins, but not directly established)May regulate transcription, as shown by transcription factor binding at its promoterImplicated in neural development and possibly expansion of the brain neocortex (through NBPF family roles)Biological impact through gene copy number variation on neurodevelopment and organogenesis
03

Disease associations

Cancer (notably neuroblastoma, other solid tumors, and multiple types of cancer due to 1q amplification)Developmental and neurogenetic diseases (autism, schizophrenia, cognitive disability, microcephaly, macrocephaly, congenital heart disease, congenital kidney and urinary tract anomalies)
04

Biomarkers

NBPF12 gene copy number variation (as part of chromosome 1q21.1 copy number variation syndrome)May be included in broader CNV/profiling for cancers and developmental disorders involving chromosome 1q

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