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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. [provided by RefSeq, Jul 2008]
NMNAT2 (Nicotinamide Nucleotide Adenylyltransferase 2) is a Protein Coding gene. Diseases associated with NMNAT2 include Erythromelalgia and Wallerian Degeneration. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and NAD metabolism. Gene Ontology (GO) annotations related to this gene include nicotinate-nucleotide adenylyltransferase activity and nicotinamide-nucleotide adenylyltransferase activity. An important paralog of this gene is NMNAT1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH01J183416 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE | 609.8 | +0.7 | 667 | 1.8 | CREB1 ZBTB33 PRDM10 ZNF629 REST KDM1A ZNF692 PRDM1 ZNF776 ZSCAN4 | NMNAT2 SMG7 piR-47402-005 LAMC2 | |
GH01J183418 | Promoter | 0.4 | EPDnew | 600.7 | -0.3 | -297 | 0.1 | ZBTB17 | NMNAT2 piR-32861-007 SMG7 | |
GH01J183317 | Enhancer | 1 | Ensembl ENCODE dbSUPER | 7.1 | +99.5 | 99480 | 2.2 | CEBPG CTCF FOXA1 RELA RAD21 TRIM22 CEBPA EED CEBPB RELB | NMNAT2 piR-42694-014 lnc-LAMC2-3 LAMC2 | |
GH01J183345 | Enhancer | 0.9 | Ensembl dbSUPER | 7.9 | +71.8 | 71779 | 1.2 | REST ZNF740 SOX6 MGA ZNF766 CTBP1 E2F5 NR2C2 ZBTB11 GABPA | NMNAT2 NCF2 piR-42694-014 ENSG00000286372 LAMC2 | |
GH01J183348 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 6.7 | +69.1 | 69079 | 1.8 | FOXA1 POLR2A ZNF341 ZBTB44 GATA3 ZNF335 FEZF1 | NMNAT2 piR-42694-014 ENSG00000286372 LAMC2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0000309 | nicotinamide-nucleotide adenylyltransferase activity | IBA | 21873635 |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004515 | nicotinate-nucleotide adenylyltransferase activity | IBA,IDA | 16118205 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000139 | Golgi membrane | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005770 | late endosome | IEA | -- |
GO:0005794 | Golgi apparatus | IBA,IDA | 16118205 |
GO:0005802 | trans-Golgi network | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | NAD metabolism |
NAD metabolism
.53
|
.01
|
2 | Metabolism |
.40
|
|
3 | Metabolism of water-soluble vitamins and cofactors | ||
4 | Nicotinate metabolism |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0009058 | biosynthetic process | IEA | -- |
GO:0009165 | nucleotide biosynthetic process | IC | 16118205 |
GO:0009435 | NAD biosynthetic process | IBA,IEA | -- |
GO:0019363 | pyridine nucleotide biosynthetic process | IEA | -- |
GO:0019674 | NAD metabolic process | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Magnesium | Approved, Experimental, Investigational | Pharma | 0 | |||
Phosphoric acid | Approved | Pharma | 0 | |||
NADH | Approved | Nutra | 0 | |||
NAD | Experimental | Pharma | Agonist, Full agonist, Activator | 0 | ||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
beta-nicotinamide D-ribonucleotide |
|
|
||||
Nicotinamide ribotide |
|
1094-61-7 |
|
|||
nicotinate beta-D-ribonucleotide |
|
|
||||
Nicotinic acid adenine dinucleotide |
|
6450-77-7 |
|
|||
Nicotinic acid mononucleotide |
|
321-02-8 |
|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NMNAT2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NMNAT2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | NMNAT2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NMNAT2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NMNAT2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Nmnat2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Nmnat2 30 17 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | NMNAT2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NMNAT2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | nmnat2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | nmnat2 30 31 |
|
OneToOne | |
-- 30 |
|
||||
Worm (Caenorhabditis elegans) |
Secernentea | nmat-1 31 |
|
OneToMany | |
nmat-2 31 |
|
OneToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | NMA2 31 |
|
ManyToMany | |
NMA1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs768849266 | Likely Pathogenic: Inborn genetic diseases | 183,261,260(-) | C/T | MISSENSE_VARIANT | |
rs775499191 | Likely Pathogenic: Inborn genetic diseases | 183,286,706(-) | T/TG | FRAMESHIFT_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2660635 | CNV | deletion | 23128226 |
esv2720117 | CNV | deletion | 23290073 |
esv2720128 | CNV | deletion | 23290073 |
esv3588109 | CNV | loss | 21293372 |
esv3588110 | CNV | gain | 21293372 |
esv3588111 | CNV | loss | 21293372 |
esv3588112 | CNV | loss | 21293372 |
nsv1122429 | CNV | deletion | 24896259 |
nsv946538 | CNV | duplication | 23825009 |
nsv999841 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
erythromelalgia |
|
|
wallerian degeneration |
|
|
3-methylglutaconic aciduria, type iii |
|
|