Identity
HGNC
LOCATION
5q12.1
LOCUSID
ALIAS
B17.2L,MC1DN10,MMTN,NDUFA12L,mimitin
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: 91942
MIM: 609653
HGNC: 28086
Ensembl: ENSG00000164182
Variants:
dbSNP: 91942
ClinVar: 91942
TCGA: ENSG00000164182
COSMIC: NDUFAF2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164182 | ENST00000296597 | Q8N183 |
| ENSG00000164182 | ENST00000296597 | A0A0S2Z5U1 |
| ENSG00000164182 | ENST00000502658 | H0YA50 |
| ENSG00000164182 | ENST00000511107 | D6RA56 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38237647 | 2024 | Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality. | 0 |
| 38237647 | 2024 | Whole genome sequencing followed by functional analysis of genomic deletion encompassing ERCC8 and NDUFAF2 genes in a non-consanguineous Indian family reveals dysfunctional mitochondrial bioenergetics leading to infant mortality. | 0 |
| 36703939 | 2023 | Upregulation of NDUFAF2 in Lung Adenocarcinoma Is a Novel Independent Prognostic Biomarker. | 0 |
| 36738241 | 2023 | Ndufaf2, a protein in mitochondrial complex I, interacts in vivo with methionine sulfoxide reductases. | 0 |
| 36703939 | 2023 | Upregulation of NDUFAF2 in Lung Adenocarcinoma Is a Novel Independent Prognostic Biomarker. | 0 |
| 36738241 | 2023 | Ndufaf2, a protein in mitochondrial complex I, interacts in vivo with methionine sulfoxide reductases. | 0 |
| 32335026 | 2020 | NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. | 22 |
| 32335026 | 2020 | NDUFS4 deletion triggers loss of NDUFA12 in Ndufs4(-/-) mice and Leigh syndrome patients: A stabilizing role for NDUFAF2. | 22 |
| 27344355 | 2016 | Mitochondrial respiratory chain disorders in the Old Order Amish population. | 4 |
| 27344355 | 2016 | Mitochondrial respiratory chain disorders in the Old Order Amish population. | 4 |
| 26033570 | 2015 | Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines. | 8 |
| 26033570 | 2015 | Quantitative proteomic analysis of mitochondria from human ovarian cancer cells and their paclitaxel-resistant sublines. | 8 |
| 20308990 | 2011 | Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. | 61 |
| 20308990 | 2011 | Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree. | 61 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45998/ndufaf2-(nadh-ubiquinone-oxidoreductase-complex-assembly-factor-2)
