NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55967
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase subunit A12
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFA12
Synonyms (NCBI Gene) Gene synonyms aliases
B17.2, DAP13, MC1DN23
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q22
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
614530 23987 ENSG00000184752
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Mitochondrial Complex Deficiency Mitochondrial complex 1 deficiency, nuclear type 23 rs387907139, rs1411237396, rs1592704794 N/A
Show/Hide Unknown Diseases (7)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Frontal Fibrosing Alopecia Frontal fibrosing alopecia N/A N/A GWAS
Leigh Syndrome Leigh syndrome N/A N/A GenCC
leigh syndrome Leigh syndrome N/A N/A ClinVar
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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