NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55967
Gene name NADH:ubiquinone oxidoreductase subunit A12
Gene symbol NDUFA12
Synonyms (NCBI Gene)
B17.2DAP13MC1DN23
Chromosome 12
Chromosome location 12q22
Summary This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutati
SNPs SNP information provided by dbSNP.
3
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs387907139 G>A,C Pathogenic Intron variant, missense variant, coding sequence variant, stop gained
rs1411237396 C>A,T Likely-pathogenic Missense variant, coding sequence variant, stop gained
rs1592704794 C>A Pathogenic Stop gained, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
139
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (139)
miRTarBase ID miRNA Experiments Reference
MIRT514618 hsa-miR-548ag PAR-CLIP 20371350
MIRT514617 hsa-miR-548ai PAR-CLIP 20371350
MIRT514616 hsa-miR-548ba PAR-CLIP 20371350
MIRT514615 hsa-miR-570-5p PAR-CLIP 20371350
MIRT514614 hsa-miR-5580-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (17)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32296183
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
GO:0005743 Component Mitochondrial inner membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614530 23987 ENSG00000184752
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UI09
Protein name NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 (13 kDa differentiation-associated protein) (Complex I-B17.2) (CI-B17.2) (CIB17.2) (NADH-ubiquinone oxidoreductase subunit B17.2)
Protein function Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat
PDB 5XTB , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05071 NDUFA12 36 → 139 NADH ubiquinone oxidoreductase subunit NDUFA12 Family
Sequence
Sequence length 145
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Oxidative phosphorylation
Metabolic pathways
Thermogenesis
Retrograde endocannabinoid signaling
Non-alcoholic fatty liver disease
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Chemical carcinogenesis - reactive oxygen species
Diabetic cardiomyopathy 		  Respiratory electron transport
Complex I biogenesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Mitochondrial complex I deficiency, nuclear type 23 Likely pathogenic; Pathogenic rs774252307, rs747101350, rs2136056220, rs2136069811, rs1259705655, rs387907139, rs1411237396, rs1592704794 RCV001332284
RCV001598698
RCV001598699
RCV001598700
RCV002248456
RCV000024206
RCV000985206
RCV000988895
SLC35A2-congenital disorder of glycosylation Likely pathogenic rs1411237396 RCV005861186
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Likely benign rs141719682 RCV005893527
Gastric cancer Likely benign rs141719682 RCV005893528
Leigh syndrome Uncertain significance rs140235371, rs1592708249 RCV001336455
RCV001004915
NDUFA12-related disorder Likely benign rs778152259 RCV003977036
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abruptio Placentae Associate 30194050
Alzheimer Disease Associate 22273362
Colorectal Neoplasms Associate 18360708
Diabetes Mellitus Type 2 Inhibit 28730835
Leukemia Myeloid Acute Associate 38253683
Obesity Inhibit 28730835
Optic Atrophy Hereditary Leber Associate 37071596