Identity
HGNC
LOCATION
1q25.3
LOCUSID
ALIAS
C1orf15,PNAT2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23057
MIM: 608701
HGNC: 16789
Ensembl: ENSG00000157064
Variants:
dbSNP: 23057
ClinVar: 23057
TCGA: ENSG00000157064
COSMIC: NMNAT2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000157064 | ENST00000287713 | Q9BZQ4 |
| ENSG00000157064 | ENST00000294868 | Q9BZQ4 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38222451 | 2023 | Downregulation of SIRT6 and NMNAT2 is associated with proliferative diabetic retinopathy. | 0 |
| 38222451 | 2023 | Downregulation of SIRT6 and NMNAT2 is associated with proliferative diabetic retinopathy. | 0 |
| 31132363 | 2019 | Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. | 30 |
| 31136762 | 2019 | Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. | 32 |
| 31132363 | 2019 | Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgia. | 30 |
| 31136762 | 2019 | Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence. | 32 |
| 29997255 | 2018 | PAM forms an atypical SCF ubiquitin ligase complex that ubiquitinates and degrades NMNAT2. | 21 |
| 29997255 | 2018 | PAM forms an atypical SCF ubiquitin ligase complex that ubiquitinates and degrades NMNAT2. | 21 |
| 28544218 | 2017 | Genome-wide mediation analysis of psychiatric and cognitive traits through imaging phenotypes. | 13 |
| 28855716 | 2017 | A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease. | 22 |
| 28544218 | 2017 | Genome-wide mediation analysis of psychiatric and cognitive traits through imaging phenotypes. | 13 |
| 28855716 | 2017 | A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease. | 22 |
| 26783109 | 2016 | Decreased SMG7 expression associates with lupus-risk variants and elevated antinuclear antibody production. | 4 |
| 27218101 | 2016 | Nicotinamide Mononucleotide Adenylyl Transferase 2: A Promising Diagnostic and Therapeutic Target for Colorectal Cancer. | 14 |
| 27254664 | 2016 | NMNAT2:HSP90 Complex Mediates Proteostasis in Proteinopathies. | 77 |
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)
