NDUFC2-KCTD14 (NDUFC2-KCTD14 readthrough)

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• 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 Show/Hide all (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
MIRT452136	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT452135	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT452134	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT452133	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT452132	hsa-miR-1266-3p	PAR-CLIP	23592263
MIRT452131	hsa-miR-643	PAR-CLIP	23592263
MIRT452130	hsa-miR-567	PAR-CLIP	23592263
MIRT452129	hsa-miR-4326	PAR-CLIP	23592263
MIRT452128	hsa-miR-376a-5p	PAR-CLIP	23592263
MIRT452127	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT452126	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT452125	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT452124	hsa-miR-4777-5p	PAR-CLIP	23592263
MIRT452123	hsa-miR-675-3p	PAR-CLIP	23592263
MIRT452122	hsa-miR-297	PAR-CLIP	23592263
MIRT452121	hsa-miR-7152-5p	PAR-CLIP	23592263
MIRT452120	hsa-miR-3149	PAR-CLIP	23592263
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
MIRT452136	hsa-miR-144-3p	PAR-CLIP	23592263
MIRT452135	hsa-miR-128-3p	PAR-CLIP	23592263
MIRT452134	hsa-miR-216a-3p	PAR-CLIP	23592263
MIRT452133	hsa-miR-3681-3p	PAR-CLIP	23592263
MIRT452132	hsa-miR-1266-3p	PAR-CLIP	23592263
MIRT452131	hsa-miR-643	PAR-CLIP	23592263
MIRT452130	hsa-miR-567	PAR-CLIP	23592263
MIRT452129	hsa-miR-4326	PAR-CLIP	23592263
MIRT452128	hsa-miR-376a-5p	PAR-CLIP	23592263
MIRT452127	hsa-miR-513a-5p	PAR-CLIP	23592263
MIRT452126	hsa-miR-27a-3p	PAR-CLIP	23592263
MIRT452125	hsa-miR-27b-3p	PAR-CLIP	23592263
MIRT452124	hsa-miR-4777-5p	PAR-CLIP	23592263
MIRT452123	hsa-miR-675-3p	PAR-CLIP	23592263
MIRT452122	hsa-miR-297	PAR-CLIP	23592263
MIRT452121	hsa-miR-7152-5p	PAR-CLIP	23592263
MIRT452120	hsa-miR-3149	PAR-CLIP	23592263
MIRT1179149	hsa-miR-371-5p	CLIP-seq
MIRT1179150	hsa-miR-371b-5p	CLIP-seq
MIRT1179151	hsa-miR-4698	CLIP-seq
MIRT1179152	hsa-miR-499-3p	CLIP-seq
MIRT1179153	hsa-miR-499a-3p	CLIP-seq
MIRT2280916	hsa-miR-29a	CLIP-seq
MIRT2280917	hsa-miR-29b	CLIP-seq
MIRT2280918	hsa-miR-29c	CLIP-seq
MIRT2280919	hsa-miR-3152-3p	CLIP-seq
MIRT2280920	hsa-miR-3677-5p	CLIP-seq
MIRT2280921	hsa-miR-3921	CLIP-seq
MIRT2280922	hsa-miR-4642	CLIP-seq
MIRT2280923	hsa-miR-4649-3p	CLIP-seq
MIRT2280924	hsa-miR-4653-5p	CLIP-seq
MIRT2280925	hsa-miR-4694-5p	CLIP-seq
MIRT2280926	hsa-miR-4711-5p	CLIP-seq
MIRT2280919	hsa-miR-3152-3p	CLIP-seq
MIRT2280921	hsa-miR-3921	CLIP-seq
MIRT2280923	hsa-miR-4649-3p	CLIP-seq
MIRT2280924	hsa-miR-4653-5p	CLIP-seq
MIRT2280925	hsa-miR-4694-5p	CLIP-seq

Gene ontology (GO) Show/Hide all (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
GO:0045271	Component	Respiratory chain complex I	IBA

Other IDs

• MIM: HGNC
• HGNC: N/A
• e!Ensembl: HGNC

Protein

• UniProt ID: 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:

  MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLIDNLIRRRPIATAGLHRQ
  LLYITAFFFAGYYLVKREDYLYAVRDREMFGYMKLHPEDFPEEDVYCCGAERRG

• Sequence length: 114

Pathways

KEGG Pathway

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

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
Phenotype Name	Clinical Significance	Source	Reference	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	26545240	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

NDUFA8 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 2 shared evidence sourcesDisgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFB10 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 2 shared evidence sourcesDisgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFA11 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 2 shared evidence sourcesDisgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. NDUFA6 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 8 shared pathwaysOxidative phosphorylation, Thermogenesis, Retrograde endocannabinoid signaling, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 2 shared evidence sourcesDisgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease) Related via 8 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet. CYC1 2 shared diseasesMitochondrial complex deficiency, Mitochondrial disease 7 shared pathwaysOxidative phosphorylation, Thermogenesis, Non-alcoholic fatty liver disease, Parkinson disease, Prion disease, Chemical carcinogenesis - reactive oxygen species, Diabetic cardiomyopathy 2 shared evidence sourcesDisgenet (Mitochondrial complex deficiency), Disgenet (Mitochondrial disease) Related via 7 shared pathways including Oxidative phosphorylation, Thermogenesis — evidence mostly Disgenet.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
NDUFA8	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	2	["Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)"]
NDUFB10	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	2	["Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)"]
NDUFA11	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	2	["Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)"]
NDUFA6	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	2	["Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)"]
CYC1	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	7	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy"]	2	["Disgenet (Mitochondrial complex deficiency)","Disgenet (Mitochondrial disease)"]

Diseases Linked via Similar Genes

Obesity Linked via 1 of 5 related genesNDUFA8 Scoliosis Linked via 1 of 5 related genesNDUFA8

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Obesity	1	["NDUFA8"]
Scoliosis	1	["NDUFA8"]