Gene: NBPF3

Alternate names for this Gene: AE2

Gene Summary: 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, cognitive disability, 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.12

Description of this Gene: NBPF member 3

Type of Gene: protein-coding

rs1827293 in NBPF3 gene and Alkaline phosphatase measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

rs4654748 in NBPF3 gene and VITAMIN B12 MEASUREMENT PMID 19744961 2009 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.

PMID 19303062 2009 Polymorphisms in the ALPL gene (rs4654748, p = 8.30 x 10(-18)) were associated with vitamin B6 and FUT2 (rs602662, [corrected] p = 2.83 x 10(-20)) with vitamin B12 serum levels.

rs12118362 in NBPF3 gene and Vitamin B6 measurement PMID 25147783 2014 Genetic Associations with Plasma B12, B6, and Folate Levels in an Ischemic Stroke Population from the Vitamin Intervention for Stroke Prevention (VISP) Trial.

PMID 19744961 2009 Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.

PMID 30583557 2018 The Alkaline Phosphatase (ALPL) Locus Is Associated with B6 Vitamer Levels in CSF and Plasma.

PMID 19303062 2009 Polymorphisms in the ALPL gene (rs4654748, p = 8.30 x 10(-18)) were associated with vitamin B6 and FUT2 (rs602662, [corrected] p = 2.83 x 10(-20)) with vitamin B12 serum levels.

PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.