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Neuroblastoma breakpoint family member 14 (NBPF14)

Target: NBPF14
Molecular classification: Other (NBPF protein family), Protein containing DUF1220 domains, Not a receptor, enzyme, transporter, transcription factor, or ion channel

Overview

NBPF14 encodes a member of the neuroblastoma breakpoint family, a group of human genes characterized by tandemly repeated DUF1220 protein domains and expanded in primates. The family is notable for genetic copy number variation within chromosome 1q21.1, which has been implicated in a variety of neurodevelopmental, cognitive, and congenital diseases including autism, schizophrenia, microcephaly, macrocephaly, congenital heart defects, neuroblastoma, and urinary tract anomalies. NBPF14 itself is associated with neuroblastoma and autism, and its protein exhibits calcium ion binding. Altered NBPF family member expression is linked to several cancers, although NBPF14 is not currently considered a druggable or therapeutic target, and its specific biological roles and interactions remain poorly characterized.

Other names: NBPF family member NBPF14NBPF14DJ328E19.C1.1Neuroblastoma breakpoint family member 14AE5NBPFneuroblastoma breakpoint family member 14

Biological functions

Gene copy number variation is associated with neurodevelopmental processes and brain developmentAltered gene expression can be linked to cancerCalcium ion binding (Gene Ontology)Other (function not well characterized)

Disease associations

Developmental diseases (microcephaly, macrocephaly, autism, schizophrenia, cognitive disability)Cancer (neuroblastoma, several other cancer types)Congenital heart diseaseCongenital kidney and urinary tract anomalies

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