Gene Gene information from NCBI Gene database.
Entrez ID 4705
Gene name NADH:ubiquinone oxidoreductase subunit A10
Gene symbol NDUFA10
Synonyms (NCBI Gene)
CI-42KDCI-42kMC1DN22
Chromosome 2
Chromosome location 2q37.3
Summary The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to th
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs199648872 G>C,T Likely-pathogenic, uncertain-significance Intron variant, genic downstream transcript variant
rs387906872 T>C Pathogenic Initiator codon variant, missense variant, non coding transcript variant
rs387906873 T>C Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057519414 A>G Pathogenic Missense variant, coding sequence variant, non coding transcript variant
rs1057519415 ->TTA Pathogenic Coding sequence variant, inframe insertion, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
832
miRTarBase ID miRNA Experiments Reference
MIRT051977 hsa-let-7b-5p CLASH 23622248
MIRT039891 hsa-miR-615-3p CLASH 23622248
MIRT612132 hsa-miR-634 HITS-CLIP 23824327
MIRT612131 hsa-miR-1226-3p HITS-CLIP 23824327
MIRT612130 hsa-miR-6501-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IBA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IDA 28844695
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603835 7684 ENSG00000130414
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95299
Protein name NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial (Complex I-42kD) (CI-42kD) (NADH-ubiquinone oxidoreductase 42 kDa 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 5XTC , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01712 dNK 60 288 Deoxynucleoside kinase Domain
Sequence
Sequence length 355
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
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
Mitochondrial complex I deficiency, nuclear type 22 Likely pathogenic; Pathogenic rs1230530438, rs1057519414, rs1057519415, rs387906872, rs387906873 RCV005230490
RCV000412613
RCV000412484
RCV000023345
RCV000023346
★★★★★
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
APPENDICITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 26125932, 37373264 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Dementia Dementia Pubtator 37373264 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 21775499 Associate
★☆☆☆☆
Found in Text Mining only
Dysarthria Dysarthria HPO_DG
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypertensive disease Hypertension BEFREE 26648553
★☆☆☆☆
Found in Text Mining only
Hypertrichosis HYPERTRICHOSIS HPO_DG
★☆☆☆☆
Found in Text Mining only
Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only