NDUFS8 (NADH:ubiquinone oxidoreductase core subunit S8)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4728
Gene name Gene Name - the full gene name approved by the HGNC.
NADH:ubiquinone oxidoreductase core subunit S8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NDUFS8
Synonyms (NCBI Gene) Gene synonyms aliases
CI-23k, CI23KD, MC1DN2, TYKY
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a subunit of mitochondrial NADH:ubiquinone oxidoreductase, or Complex I, a multimeric enzyme of the respiratory chain responsible for NADH oxidation, ubiquinone reduction, and the ejection of protons from mitochondria. The encoded protei
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs111033588 G>A Pathogenic Missense variant, coding sequence variant
rs143337739 G>A Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
rs397514617 C>A Pathogenic Missense variant, coding sequence variant
rs750075208 G>A Likely-pathogenic Coding sequence variant, missense variant
rs863224115 A>T Likely-pathogenic Missense 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(1)
miRTarBase ID miRNA Experiments Reference
MIRT029672 hsa-miR-26b-5p Microarray 19088304
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(33)
GO ID Ontology Definition Evidence Reference
GO:0003954 Function NADH dehydrogenase activity IBA
GO:0003954 Function NADH dehydrogenase activity IMP 14749350, 15159508
GO:0005515 Function Protein binding IPI 31536960
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 9666055
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
602141 7715 ENSG00000110717
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O00217
Protein name NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial (EC 7.1.1.2) (Complex I-23kD) (CI-23kD) (NADH-ubiquinone oxidoreductase 23 kDa subunit) (TYKY subunit)
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:22499348). Essential for the
PDB 5XTB , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12838 Fer4_7 110 → 164 4Fe-4S dicluster domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues with the highest level in heart and skeletal muscle and the lowest level in lung. {ECO:0000269|PubMed:9666055}.
Sequence 
MRCLTTPMLLRALAQAARAGPPGGRSLHSSAVAATYKYVNMQDPEMDMKSVTDRAARTLL
WTELFRGLGMTLSYLFREPATINYPFEKGPLSPRFRGEHALRRYPSGEERCIACKLCEAI
CPAQAITIEAEPRADGSRRTTRYDIDMTKCIYCGFCQEACPVDAIVEGPNFEFSTETHEE
LLYNKEKLLNNGDKWEAEIAANIQADYLYR
Sequence length 210
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 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 (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
leigh syndrome Leigh syndrome rs28939679, rs1267554976 N/A
Mitochondrial Complex Deficiency Mitochondrial complex 1 deficiency, nuclear type 2 rs28939679, rs121912639, rs397514617, rs397514618 N/A
Show/Hide Unknown Diseases (1)
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
Leigh Syndrome With Leukodystrophy Leigh syndrome with leukodystrophy N/A N/A GenCC
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenocortical Carcinoma Associate 20231622
Carcinoma Hepatocellular Associate 12079511
Death Associate 9837812
Leigh Disease Associate 11004438, 20819849, 34204592, 36675121, 9837812
Leukemia Lymphocytic Chronic B Cell Associate 12079511
Liver Neoplasms Associate 12079511
Lung Neoplasms Associate 27516145
Mitochondrial complex I deficiency Associate 18435906, 27516145, 34204592
Mitochondrial Diseases Associate 29288336
Mitochondrial Encephalomyopathies Associate 34204592