Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4726
Gene name	NADH:ubiquinone oxidoreductase subunit S6
Gene symbol	NDUFS6
Synonyms (NCBI Gene)	CI-13kACI-13kD-ACI13KDAMC1DN9
Chromosome	5
Chromosome location	5p15.33
Summary	This gene encodes a subunit of the NADH:ubiquinone oxidoreductase (complex I), which is the first enzyme complex in the electron transport chain of mitochondria. This complex functions in the transfer of electrons from NADH to the respiratory chain. The s

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267606913	G>A	Pathogenic	Missense variant, coding sequence variant
rs747442701	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs863224110	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863224111	A>G,T	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (16)

miRTarBase ID	miRNA	Experiments	Reference
MIRT046190	hsa-miR-27b-3p	CLASH	23622248
MIRT041397	hsa-miR-193b-3p	CLASH	23622248
MIRT1179239	hsa-miR-1178	CLIP-seq
MIRT1179240	hsa-miR-513a-5p	CLIP-seq
MIRT2051781	hsa-miR-29a	CLIP-seq
MIRT2051782	hsa-miR-29b	CLIP-seq
MIRT2051783	hsa-miR-29c	CLIP-seq
MIRT2051784	hsa-miR-3065-3p	CLIP-seq
MIRT2051785	hsa-miR-4733-3p	CLIP-seq
MIRT1179239	hsa-miR-1178	CLIP-seq
MIRT2051781	hsa-miR-29a	CLIP-seq
MIRT2051782	hsa-miR-29b	CLIP-seq
MIRT2051783	hsa-miR-29c	CLIP-seq
MIRT2051784	hsa-miR-3065-3p	CLIP-seq
MIRT2051785	hsa-miR-4733-3p	CLIP-seq
MIRT1179240	hsa-miR-513a-5p	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IBA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9647766, 9878551
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006936	Process	Muscle contraction	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9647766, 9878551
GO:0009055	Function	Electron transfer activity	NAS	9647766
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0017145	Process	Stem cell division	IEA
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030330	Process	DNA damage response, signal transduction by p53 class mediator	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042776	Process	Proton motive force-driven mitochondrial ATP synthesis	NAS	30030361
GO:0045271	Component	Respiratory chain complex I	IBA
GO:0045271	Component	Respiratory chain complex I	IDA	12611891, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	9878551, 15372108
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0061458	Process	Reproductive system development	IEA
GO:0072359	Process	Circulatory system development	IEA
GO:0072497	Process	Mesenchymal stem cell differentiation	IEA
GO:0072593	Process	Reactive oxygen species metabolic process	IEA
GO:0090398	Process	Cellular senescence	IEA
GO:0097168	Process	Mesenchymal stem cell proliferation	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603848	7713	ENSG00000145494

O75380

Protein name

NADH dehydrogenase [ubiquinone] iron-sulfur protein 6, mitochondrial (Complex I-13kD-A) (CI-13kD-A) (NADH-ubiquinone oxidoreductase 13 kDa-A 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

5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10276	zf-CHCC	82 → 119	Zinc-finger domain	Domain

Sequence

MAAAMTFCRLLNRCGEAARSLPLGARCFGVRVSPTGEKVTHTGQVYDDKDYRRIRFVGRQ
KEVNENFAIDLIAEQPVSEVETRVIACDGGGGALGHPKVYINLDKETKTGTCGYCGLQFR
QHHH

Sequence length

124

Interactions

View interactions

	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

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)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cervical cancer	Likely pathogenic; Pathogenic	rs763535523	RCV005909287	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 9	Likely pathogenic; Pathogenic	rs769666581, rs1734300591, rs112210581, rs759473851, rs1169689300, rs1561102614, rs267606913, rs2477240345, rs2477240280, rs2477243665, rs2477240409, rs1182595182, rs773292120, rs1734061080, rs1561102612 View all (3 more)	RCV003475305 RCV003465938 RCV005254706 RCV003475522 RCV004571179 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar Disgenet, GenCC Disgenet, GenCC	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFS6-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	22474353		★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	18559093		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervix carcinoma	Cervix carcinoma	BEFREE	18559093		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression Postpartum	Major depressive disorder	Pubtator	35801790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	35801790	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	30948790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	18559093		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25470292		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	15372108, 19259137, 22644603		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	19259137, 35801790	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	BEFREE	22474353		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	27290639, 27604308		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9	Mitochondrial Complex Deficiency	UNIPROT_DG	15372108, 19259137		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9	Mitochondrial Complex Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 9	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	GENOMICS_ENGLAND_DG	27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37558663	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19034380		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	18559093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFS6 (NADH:ubiquinone oxidoreductase subunit S6)