NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)

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Gene Gene information from NCBI Gene database.
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Entrez ID 4695
Gene name NADH:ubiquinone oxidoreductase subunit A2
Gene symbol NDUFA2
Synonyms (NCBI Gene)
B8CD14CIB8MC1DN13
Chromosome 5
Chromosome location 5q31.3
Summary The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT048675 hsa-miR-99a-5p CLASH 23622248
MIRT048578 hsa-miR-100-5p CLASH 23622248
MIRT045264 hsa-miR-186-5p CLASH 23622248
MIRT461746 hsa-miR-3936 PAR-CLIP 23592263
MIRT461745 hsa-miR-6873-5p PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001835 Process Blastocyst hatching IEA
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.
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MIM HGNC e!Ensembl
602137 7685 ENSG00000131495
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43678
Protein name NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 (Complex I-B8) (CI-B8) (NADH-ubiquinone oxidoreductase B8 subunit)
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 1S3A , 5XTB , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05047 L51_S25_CI-B8 33 → 84 Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain Domain
Sequence 
MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSD
VQPKLWARYAFGQETNVPLNNFSADQVTRALENVLSGKA
Sequence length 99
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Oxidative phosphorylation Respiratory electron transport
Metabolic pathways Complex I biogenesis
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cystic Leukoencephalopathy Pathogenic rs757982865 RCV000516026
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 13 Pathogenic rs757982865, rs1168752295, rs1757460270 RCV001256006
RCV000007945
RCV001256008
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (14)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CYSTIC LEUKOENCEPHALOPATHY WITHOUT MEGALENCEPHALY — CTD, Orphanet
CTD, Orphanet 		28857146, 28857146
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Conflicting classifications of pathogenicity ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (627)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
5q-syndrome 5q-syndrome BEFREE 15725470
★★★★★
★☆☆☆☆
Found in Text Mining only
AA amyloidosis AA amyloidosis BEFREE 17187267
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 15686783
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome LHGDN 17925604
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 1375695
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 21476947
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 30336978
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Myeloid Leukemia, M1 Myeloid Leukemia BEFREE 1825181
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 11860442, 9052378
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute otitis media Otitis media BEFREE 16893989
★★★★★
★☆☆☆☆
Found in Text Mining only
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NDUFS7 3 shared diseasesLeigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 8 shared evidence sourcesDisgenet (Leigh syndrome), ClinGen (Leigh syndrome), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), GWAS catalog (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFC2 3 shared diseasesLeigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 7 shared evidence sourcesClinGen (Leigh syndrome), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), CTD (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly ClinGen. NDUFA9 3 shared diseasesLeigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesDisgenet (Leigh syndrome), ClinGen (Leigh syndrome), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFA1 3 shared diseasesLeigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesCTD (Leigh syndrome), ClinGen (Leigh syndrome), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly ClinGen. NDUFS8 3 shared diseasesLeigh syndrome, Mitochondrial complex deficiency, Mitochondrial disease 10 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 7 shared evidence sourcesDisgenet (Leigh syndrome), ClinGen (Leigh syndrome), ClinVar (Mitochondrial complex deficiency), Disgenet (Mitochondrial complex deficiency), HPO (Mitochondrial complex deficiency), ClinGen (Mitochondrial disease), Disgenet (Mitochondrial disease) Related via 10 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet.
Alzheimer disease Linked via 1 of 5 related genesNDUFA9 Color vision deficiency Linked via 1 of 5 related genesNDUFA9 Osteoarthritis Linked via 1 of 5 related genesNDUFS8