| Type | Description |
|---|---|
| Definition | NADH:ubiquinone oxidoreductase subunit A2 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-03 10:21:00 | Review of a biorepository of patients with unsolved genetic leukoencephalopathies who underwent whole-exome or genome sequencing allowed us to identify a second patient with compound heterozygous mutations in NDUFA2. Only 1 other patient with mutations in NDUFA2 and a different phenotype (Leigh syndrome) has previously been reported. This is the first report of cystic leukoencephalopathy caused by mutations in NDUFA2. | 28857146 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-11-27 10:09:00 | A novel mechanism of lipoteichoic acid (LTA)-induced cytokine induction in human peripheral blood cells involves uptake of LTA and subsequent intracellular recognition driven by Toll-like receptor (TLR)2, TLR6, and CD14. | 20713893 |
| 2010-01-21 00:00:00 | solution structure shows a thioredoxin fold with highest similarities to the human thioredoxin mutant C73S and thioredoxin 2 from Anabeana sp | 15341729 |
| Type | IDs |
|---|---|
| Synonymous | B8, CD14, CIB8, MC1DN13 |
| Gene |
UniProtKB-ID:
NDUA2_HUMAN
UniprotKB:
O43678
UniParc:
UPI000013CD3E,
UPI0001D3B901
EMBL:
CR457016,
BC003674,
AV705564,
AB054976,
AF077029,
AF047185,
AC116353
Ensembl:
ENSG00000131495
KO:
hsa:4695
|
| Nucleutide sequences |
EMBL-CDS:
AAC04270.1,
CAG33297.1,
BAB21453.1,
AAH03674.1,
AAD27762.1
Ensembl_TRS:
ENST00000252102,
ENST00000512088
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000252102,
ENSP00000427220
RefSeq:
NP_001171941.1,
NP_002479.1
|
| Others |
UniRef100:
UniRef100_O43678
UniRef90:
UniRef90_O43678
UniRef50:
UniRef50_O43678
UniGene:
Hs.75914
CCDS:
CCDS54911.1,
CCDS4234.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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