Gene Gene information from NCBI Gene database.
Entrez ID 100532726
Gene name NDUFC2-KCTD14 readthrough
Gene symbol NDUFC2-KCTD14
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q14.1
Summary This locus represents naturally occurring read-through transcription between the neighboring NDUFC2 (NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 2, 14.5kDa) and KCTD14 (potassium channel tetramerisation domain containing 14) genes on chromosome
miRNA miRNA information provided by mirtarbase database.
65
miRTarBase ID miRNA Experiments Reference
MIRT494920 hsa-miR-551b-5p PAR-CLIP 23708386
MIRT494919 hsa-miR-2115-3p PAR-CLIP 23708386
MIRT494918 hsa-miR-6889-3p PAR-CLIP 23708386
MIRT494917 hsa-miR-5189-3p PAR-CLIP 23708386
MIRT494916 hsa-miR-1227-3p PAR-CLIP 23708386
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
GO ID Ontology Definition Evidence Reference
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IEA
GO:0005743 Component Mitochondrial inner membrane IEA
GO:0006120 Process Mitochondrial electron transport, NADH to ubiquinone IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
E9PQ53
Protein name NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 (NDUFC2-KCTD14 readthrough transcript protein)
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06374 NDUF_C2 10 107 NADH-ubiquinone oxidoreductase subunit b14.5b (NDUFC2) Family
Sequence
Sequence length 114
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  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
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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.
Phenotype Name Clinical Significance Source Evidence Score
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PELVIC ORGAN PROLAPSE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations