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Tclin
NDUFAF2
NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2

Protein Summary
Description
Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (PubMed:16200211, PubMed:27626371). NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. This gene encodes a complex I assembly factor. Mutations in this gene cause progressive encephalopathy resulting from mitochondrial complex I deficiency. [provided by RefSeq, Jul 2008]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000296597
  • ENSP00000296597
  • ENSG00000164182

Symbol
  • NDUFA12L
  • MMTN
  • B17.2L
  • MC1DN10
  • mimitin
  • NDUFA12L
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
histone modification site profile
0.9
tissue sample
0.68
cell type or tissue
0.53
tissue
0.52
transcription factor
0.51


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 23.46   (req: < 5)
Gene RIFs: 10   (req: <= 3)
Antibodies: 177   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 23.46   (req: >= 5)
Gene RIFs: 10   (req: > 3)
Antibodies: 177   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 1
Approved Drugs (1)
1 – 1 of 1
metformin
chemical structure image
GWAS Traits (10)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
cortical surface area measurement
1
1
0
10.1
95.1
self reported educational attainment
2
2
2
92.3
mathematical ability
2
2
2
81.1
2
2
0
1.2
80.3
household income
2
3
4
80.2
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
cortical surface area measurement
0
10.1
95.1
self reported educational attainment
2
92.3
mathematical ability
2
81.1
0
1.2
80.3
household income
4
80.2
Orthologs (10)
1 – 5 of 10
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
NADH:ubiquinone oxidoreductase complex assembly factor 2 [Source:HGNC Symbol;Acc:HGNC:28086]
Mouse
MGI:1922847
75597
Dog
NADH:ubiquinone oxidoreductase complex assembly factor 2
VGNC:43692
478067
Horse
NADH:ubiquinone oxidoreductase complex assembly factor 2
VGNC:20630
100051125
Cow
NADH:ubiquinone oxidoreductase complex assembly factor 2
VGNC:31954
767961
Species
Name
OMA
EggNOG
Inparanoid
Macaque
NADH:ubiquinone oxidoreductase complex assembly factor 2 [Source:HGNC Symbol;Acc:HGNC:28086]
Mouse
Dog
NADH:ubiquinone oxidoreductase complex assembly factor 2
Horse
NADH:ubiquinone oxidoreductase complex assembly factor 2
Cow
NADH:ubiquinone oxidoreductase complex assembly factor 2
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-Q8N183-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (120)
Complex I biogenesis (R-HSA-6799198)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Complex I biogenesis
Reactome
Metabolism
Reactome
Respiratory electron transport
Reactome
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Reactome
The citric acid (TCA) cycle and respiratory electron transport
Name
Explore in Pharos
Explore in Source
Complex I biogenesis
Metabolism
Respiratory electron transport
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
The citric acid (TCA) cycle and respiratory electron transport
Protein-Protein Interactions (106)
1 – 10 of 106
NDUFA7
Tclin
Family: Enzyme
Novelty: 0.16417588
p_int: 0.999891702
p_ni: 0.000068838
p_wrong: 0.000039459
Score: 0.905
Data Source: BioPlex,STRINGDB
NDUFV3
Tclin
Family: Enzyme
Novelty: 0.15352039
p_int: 0.999802693
p_ni: 0.000089932
p_wrong: 0.000107375
Score: 0.925
Data Source: BioPlex,STRINGDB
CBLN4
Tbio
Novelty: 0.11296355
p_int: 0.999708883
p_ni: 9.92e-7
p_wrong: 0.000290125
Score: 0.39
Data Source: BioPlex,STRINGDB
NDUFB9
Tclin
Family: Enzyme
Novelty: 0.00715628
p_int: 0.933872151
p_ni: 0.065665759
p_wrong: 0.00046209
Score: 0.934
Data Source: BioPlex,STRINGDB
MT-ND4
Tclin
Family: Enzyme
Novelty: 0.00079935
p_int: 0.915824834
p_ni: 0.078368121
p_wrong: 0.005807045
Score: 0.937
Data Source: BioPlex,STRINGDB
NDUFB8
Tclin
Family: Enzyme
Novelty: 0.019021
p_int: 0.878295059
p_ni: 0.121704213
p_wrong: 7.28e-7
Score: 0.932
Data Source: BioPlex,STRINGDB
NDUFAF4
Tclin
Family: Enzyme
Novelty: 0.10799507
Score: 0.986
Data Source: STRINGDB
NDUFA12
Tclin
Family: Enzyme
Novelty: 0.04679316
Score: 0.979
Data Source: STRINGDB
NDUFAF1
Tclin
Novelty: 0.05630549
Score: 0.972
Data Source: STRINGDB
NDUFAF5
Tbio
Family: Enzyme
Novelty: 0.13483499
Score: 0.972
Data Source: STRINGDB
Publication Statistics
PubMed Score  23.46

PubMed score by year
PubTator Score  10.84

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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