ND6 (mitochondrially encoded NADH dehydrogenase 6)

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Gene Gene information from NCBI Gene database.
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Entrez ID 4541
Gene name Mitochondrially encoded NADH dehydrogenase 6
Gene symbol ND6
Synonyms (NCBI Gene)
MTND6
Chromosome MT
Chromosome location -
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT048059 hsa-miR-197-3p CLASH 23622248
MIRT047901 hsa-miR-30c-5p CLASH 23622248
MIRT047901 hsa-miR-30c-5p CLASH 23622248
MIRT047440 hsa-miR-10b-5p CLASH 23622248
MIRT046027 hsa-miR-125b-5p CLASH 23622248
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:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
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
516006 7462 HGNC
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.
P03923
Protein name NADH-ubiquinone oxidoreductase chain 6 (EC 7.1.1.2) (NADH dehydrogenase subunit 6)
Protein function Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:14595656, PubMed:8644732). Es
PDB 5XTC , 5XTD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00499 Oxidored_q3 15 → 170 NADH-ubiquinone/plastoquinone oxidoreductase chain 6 Family
Sequence 
MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLIYL
GGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVVNFNS
VGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN
Sequence length 174
Interactions View interactions

ND6 (-)

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Gene Gene information from NCBI Gene database.
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Entrez ID 6775063
Gene name -
Gene symbol ND6
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions

ND6 (-)

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Gene Gene information from NCBI Gene database.
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Entrez ID 8923198
Gene name -
Gene symbol ND6
Synonyms (NCBI Gene)
-
Chromosome MT
Chromosome location -
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
N/A N/A N/A
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
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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)
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 (15)
Phenotype Name Clinical Significance Source Reference Evidence Score
AUDITORY NEUROPATHY SPECTRUM DISORDER — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLINDNESS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSARTHRIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEBER OPTIC ATROPHY AND DYSTONIA — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LEBER PLUS DISEASE — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (149)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acidosis Lactic Lactic acidosis Pubtator 34933128 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Addison Disease Addison`s Disease HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 25934296
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 15247418, 28208064 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anorexia Anorexia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anterior hypopituitarism Hypopituitarism HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 26418562
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 26418562
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Aortic Aneurysm HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
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ND3 4 shared diseasesLeber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Mitochondrial disease 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 5 shared evidence sourcesDisgenet (Parkinson disease), Disgenet (Leber hereditary optic neuropathy), Disgenet (Leigh syndrome), Disgenet (Melas syndrome), Disgenet (Mitochondrial disease) Related via 9 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. ND5 4 shared diseasesLeber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Mitochondrial disease 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 7 shared evidence sourcesDisgenet (Parkinson disease), CTD (Leber hereditary optic neuropathy), Disgenet (Leber hereditary optic neuropathy), Disgenet (Leigh syndrome), Disgenet (Melas syndrome), CTD (Melas syndrome), Disgenet (Mitochondrial disease) Related via 9 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. ND2 4 shared diseasesLeber hereditary optic neuropathy, Leigh syndrome, Melas syndrome, Mitochondrial disease 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesDisgenet (Parkinson disease), CTD (Leber hereditary optic neuropathy), Disgenet (Leber hereditary optic neuropathy), Disgenet (Leigh syndrome), Disgenet (Melas syndrome), Disgenet (Mitochondrial disease) Related via 9 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFS2 4 shared diseasesOptic atrophy, Leber hereditary optic neuropathy, Leigh syndrome, Mitochondrial disease 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 4 shared evidence sourcesDisgenet (Optic atrophy), Disgenet (Leber hereditary optic neuropathy), Disgenet (Leigh syndrome), Disgenet (Mitochondrial disease) Related via 9 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. ND4 4 shared diseasesOptic atrophy, Leber hereditary optic neuropathy, Melas syndrome, Mitochondrial disease 9 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy, Respiratory electron transport, Complex I biogenesis 6 shared evidence sourcesDisgenet (Parkinson disease), Disgenet (Optic atrophy), CTD (Leber hereditary optic neuropathy), Disgenet (Leber hereditary optic neuropathy), Disgenet (Melas syndrome), Disgenet (Mitochondrial disease) Related via 9 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet.
Mitochondrial complex deficiency Linked via 5 of 5 related genesND3, ND5, ND2, NDUFS2, ND4 Cerebellar ataxia Linked via 4 of 5 related genesND3, ND5, ND2, ND4 Cleft palate and bilateral cleft lip Linked via 4 of 5 related genesND3, ND5, ND2, ND4 Neuropathy, ataxia, and retinitis pigmentosa Linked via 4 of 5 related genesND3, ND5, ND2, ND4 Rod-cone dystrophy Linked via 4 of 5 related genesND3, ND5, ND2, ND4