Gene Gene information from NCBI Gene database.
Entrez ID 4718
Gene name NADH:ubiquinone oxidoreductase subunit C2
Gene symbol NDUFC2
Synonyms (NCBI Gene)
B14.5bCI-B14.5bHLC-1MC1DN36NADHDH2
Chromosome 11
Chromosome location 11q14.1
miRNA miRNA information provided by mirtarbase database.
396
miRTarBase ID miRNA Experiments Reference
MIRT048415 hsa-miR-100-5p CLASH 23622248
MIRT045857 hsa-miR-128-3p CLASH 23622248
MIRT039104 hsa-miR-769-3p CLASH 23622248
MIRT623136 hsa-miR-508-5p HITS-CLIP 23824327
MIRT623135 hsa-miR-4293 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 32320651, 33753518
GO:0005737 Component Cytoplasm IDA
GO:0005739 Component Mitochondrion HTP 34800366
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
603845 7706 ENSG00000151366
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95298
Protein name NADH dehydrogenase [ubiquinone] 1 subunit C2 (Complex I-B14.5b) (CI-B14.5b) (Human lung cancer oncogene 1 protein) (HLC-1) (NADH-ubiquinone oxidoreductase subunit B14.5b)
Protein function Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis but required for the complex assembly. Complex I functions in the transfer of electrons from NADH
PDB 5XTC , 5XTD , 5XTH , 5XTI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06374 NDUF_C2 10 119 NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2) Family
Sequence
Sequence length 119
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
Neutrophil degranulation
Complex I biogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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 36 Pathogenic rs1858924087, rs1859088426 RCV001290294
RCV001290295
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disease Pathogenic rs1858924087, rs1859088426 RCV001251449
RCV001251448
★★★★☆
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
LEIGH SYNDROME ClinGen, GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES Disgenet
★★☆☆☆
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
Acute Coronary Syndrome Coronary Syndrome BEFREE 30808603
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 24065141, 29434849
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 17925008 Associate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 26888427
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 3390172
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 25804238 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 23028138, 25245408 Associate
★☆☆☆☆
Found in Text Mining only
Ischemic stroke Ischemic Stroke BEFREE 26888427
★☆☆☆☆
Found in Text Mining only
Leigh Disease Leigh syndrome Pubtator 32969598, 33124751 Associate
★☆☆☆☆
Found in Text Mining only
Mitochondrial complex I deficiency Mitochondrial complex deficiency Pubtator 33124751 Associate
★☆☆☆☆
Found in Text Mining only