• Gene id: 100532726

Gene Summary

• Gene Symbol: NDUFC2-KCTD14   Gene   UCSC   Ensembl
• Gene name: NDUFC2-KCTD14 readthrough
• Alternate names: NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2, NDUFC2-KCTD14 readthrough transcript protein,
• Gene location: 11q14.1 (78079861: 78015714)     Exons: 15     NC_000011.10
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: E9PQ53  
  • Name: NADH dehydrogenase [ubiquinone] 1 subunit C2, isoform 2 (NDUFC2 KCTD14 readthrough transcript protein)
  • Length: 114  
  • Mass: 13408
• Sequence:

  MIARRNPEPLRFLPDEARSLPPPKLTDPRLLYIGFLGYCSGLIDNLIRRRPIATAGLHRQLLYITAFFFAGYYLV
  KREDYLYAVRDREMFGYMKLHPEDFPEEDVYCCGAERRG

• Structural information:
  • Interpro: IPR009423  
  • STRING: ENSP00000432614
• Other Databases: GeneCards:  NDUFC2-KCTD14  Malacards:  NDUFC2-KCTD14

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005747	mitochondrial respiratory chain complex I	IBA	cellular component
GO:0006120	mitochondrial electron transport, NADH to ubiquinone	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0008137	NADH dehydrogenase (ubiquinone) activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0070469	respirasome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa04723	Retrograde endocannabinoid signaling
hsa00190	Oxidative phosphorylation
hsa04932	Non-alcoholic fatty liver disease

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray