NMNAT2 (nicotinamide nucleotide adenylyltransferase 2)

2014-02-01  

Identity

HGNC
LOCATION
1q25.3
LOCUSID
ALIAS
C1orf15,PNAT2
FUSION GENES

Other Information

Locus ID:

NCBI: 23057
MIM: 608701
HGNC: 16789
Ensembl: ENSG00000157064

Variants:

dbSNP: 23057
ClinVar: 23057
TCGA: ENSG00000157064
COSMIC: NMNAT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157064ENST00000287713Q9BZQ4
ENSG00000157064ENST00000294868Q9BZQ4

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Nicotinate and nicotinamide metabolismKEGGko00760
Nicotinate and nicotinamide metabolismKEGGhsa00760
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Nicotinate metabolismREACTOMER-HSA-196807

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
161182052005Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.174
248408022014Wallerian degeneration: an emerging axon death pathway linking injury and disease.143
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
220279942012CREB-activity and nmnat2 transcription are down-regulated prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy.44
272546642016NMNAT2:HSP90 Complex Mediates Proteostasis in Proteinopathies.36
123592282002Identification of a novel human nicotinamide mononucleotide adenylyltransferase.35
174027472007Initial-rate kinetics of human NMN-adenylyltransferases: substrate and metal ion specificity, inhibition by products and multisubstrate analogues, and isozyme contributions to NAD+ biosynthesis.34
209436582010Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.25
203887042010Isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases.23
209628502011A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.21

Citation

Dessen P

NMNAT2 (nicotinamide nucleotide adenylyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-02-01

Online version: http://atlasgeneticsoncology.org/gene/53712/nmnat2-(nicotinamide-nucleotide-adenylyltransferase-2)