| Type | Description |
|---|---|
| Definition | nicotinamide nucleotide adenylyltransferase 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-29 11:06:00 | we present the first human variants in NMNAT2 identified in two fetuses with severe skeletal muscle hypoplasia and fetal akinesia. Functional studies in vitro showed that the mutations impair both NMNAT2 NAD(+) synthase and chaperone functions. This work identifies the critical role of NMNAT2 in human development. | 31136762 |
| 2020-02-29 10:48:00 | We identified a homozygous missense mutation in the gene encoding NAD synthesizing enzyme NMNAT2 in two siblings with childhood onset polyneuropathy with erythromelalgia | 31132363 |
| 2019-03-02 12:55:00 | PAM polyubiquitinates NMNAT2 and regulates NMNAT2 protein stability and degradation by the proteasome | 29997255 |
| 2018-07-21 12:16:00 | Six single-nucleotide polymorphisms (SNPs) in three loci were associated significantly with Kawasaki disease (KD) susceptibility, including the previously reported BLK locus. The other two loci were newly identified: NMNAT2 on chromosome 1q25.3 and the human leukocyte antigen (HLA) region on chromosome 6p21.3 (HLA-C, HLA-B, MICA and HCP5). | 28855716 |
| 2018-04-07 11:40:00 | analyses found that rs10494561, located in the intron region within NMNAT2, was associated with the severity of the prodromal symptoms of psychosis implicitly, mediated through the volume of the left hemisphere of the superior frontal region | 28544218 |
| Type | IDs |
|---|---|
| Synonymous | C1orf15, PNAT2 |
| Gene |
UniProtKB-ID:
NMNA2_HUMAN
UniprotKB:
Q9BZQ4
UniParc:
UPI00000706AB,
UPI0000072238
EMBL:
AL354953,
BC020998,
AL449223,
AL356981,
AB007948,
AF288395
Ensembl:
ENSG00000157064
KO:
hsa:23057
|
| Nucleutide sequences |
EMBL-CDS:
AAG60615.1,
AAH20998.1,
BAA32324.1
Ensembl_TRS:
ENST00000294868,
ENST00000287713
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000287713,
ENSP00000294868
RefSeq:
XP_024310045.1,
NP_055854.1,
NP_733820.1
|
| Others |
UniRef100:
UniRef100_Q9BZQ4
UniRef90:
UniRef90_Q9BZQ4
UniRef50:
UniRef50_Q9BZQ4
UniGene:
Hs.497123
CCDS:
CCDS1353.1,
CCDS1354.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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