Gene: NMNAT2

Alternate names for this Gene: C1orf15|PNAT2

Gene Summary: This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q25.3

Description of this Gene: nicotinamide nucleotide adenylyltransferase 2

Type of Gene: protein-coding

rs2078087 in NMNAT2 gene and Alanine aminotransferase measurement PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs2078087 in NMNAT2 gene and Aspartate aminotransferase measurement PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs41314643 in NMNAT2 gene and Drug-induced neutropenia PMID 25187353 2014 Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.

rs768849266 in NMNAT2 gene and Dysmorphic features PMID 21940452 2011 Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development.

PMID 22842230 2012 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

PMID 14516279 2004 Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.

PMID 12359228 2002 Identification of a novel human nicotinamide mononucleotide adenylyltransferase.

PMID 16118205 2005 Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.

PMID 12574164 2003 Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.

PMID 20943658 2010 Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.

PMID 21615689 2011 Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.

PMID 24284888 2014 Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 28035283 2016 Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.

PMID 24840802 2014 Wallerian degeneration: an emerging axon death pathway linking injury and disease.

PMID 23082226 2012 Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.

rs10911301 in NMNAT2 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs17484292 in NMNAT2 gene and Lupus Erythematosus, Systemic PMID 28714469 2017 Transancestral mapping and genetic load in systemic lupus erythematosus.

PMID 18204446 2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

rs768849266 in NMNAT2 gene and Multiple congenital anomalies PMID 20943658 2010 Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.

PMID 24840802 2014 Wallerian degeneration: an emerging axon death pathway linking injury and disease.

PMID 16118205 2005 Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.

PMID 14516279 2004 Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.

PMID 12574164 2003 Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 28035283 2016 Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.

PMID 21940452 2011 Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development.

PMID 23082226 2012 Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.

PMID 22842230 2012 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

PMID 24284888 2014 Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.

PMID 12359228 2002 Identification of a novel human nicotinamide mononucleotide adenylyltransferase.

PMID 21615689 2011 Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.

rs2078087 in NMNAT2 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs2078087 in NMNAT2 gene and Serum Alanine Aminotransferase Measurement PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.