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	4720
Gene name	NADH:ubiquinone oxidoreductase core subunit S2
Gene symbol	NDUFS2
Synonyms (NCBI Gene)	CI-49LHONAR2MC1DN6
Chromosome	1
Chromosome location	1q23.3
Summary	The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35086265	G>A	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, non coding transcript variant
rs121434427	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs121434428	C>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs144937332	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs150667550	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs1553249704	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant, 5 prime UTR variant

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT052485	hsa-let-7a-5p	CLASH	23622248
MIRT036624	hsa-miR-940	CLASH	23622248
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT671763	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT671762	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT671761	hsa-miR-603	HITS-CLIP	23824327
MIRT671760	hsa-miR-3941	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT646076	hsa-miR-1825	HITS-CLIP	23824327
MIRT646075	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT646074	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT646073	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT646072	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT646071	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT671763	hsa-miR-329-3p	HITS-CLIP	23824327
MIRT671762	hsa-miR-362-3p	HITS-CLIP	23824327
MIRT671761	hsa-miR-603	HITS-CLIP	23824327
MIRT671760	hsa-miR-3941	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT646076	hsa-miR-1825	HITS-CLIP	23824327
MIRT646075	hsa-miR-199a-5p	HITS-CLIP	23824327
MIRT646074	hsa-miR-199b-5p	HITS-CLIP	23824327
MIRT646073	hsa-miR-145-5p	HITS-CLIP	23824327
MIRT646072	hsa-miR-5195-3p	HITS-CLIP	23824327
MIRT646071	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT614018	hsa-miR-8485	HITS-CLIP	23824327
MIRT1179200	hsa-miR-1237	CLIP-seq
MIRT1179201	hsa-miR-1248	CLIP-seq
MIRT1179202	hsa-miR-1268	CLIP-seq
MIRT1179203	hsa-miR-1268b	CLIP-seq
MIRT1179204	hsa-miR-145	CLIP-seq
MIRT1179205	hsa-miR-2117	CLIP-seq
MIRT1179206	hsa-miR-2355-5p	CLIP-seq
MIRT1179207	hsa-miR-3182	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT1179209	hsa-miR-374a	CLIP-seq
MIRT1179210	hsa-miR-374b	CLIP-seq
MIRT1179211	hsa-miR-4273	CLIP-seq
MIRT1179212	hsa-miR-4279	CLIP-seq
MIRT1179213	hsa-miR-4696	CLIP-seq
MIRT1179214	hsa-miR-4735-5p	CLIP-seq
MIRT1179215	hsa-miR-4795-3p	CLIP-seq
MIRT1179216	hsa-miR-585	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280957	hsa-miR-1207-5p	CLIP-seq
MIRT1179204	hsa-miR-145	CLIP-seq
MIRT2280958	hsa-miR-1909	CLIP-seq
MIRT2280959	hsa-miR-2277-3p	CLIP-seq
MIRT2280960	hsa-miR-2682	CLIP-seq
MIRT2280961	hsa-miR-3155	CLIP-seq
MIRT2280962	hsa-miR-3155b	CLIP-seq
MIRT2280963	hsa-miR-3177-5p	CLIP-seq
MIRT2280964	hsa-miR-3185	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280965	hsa-miR-3660	CLIP-seq
MIRT2280966	hsa-miR-3915	CLIP-seq
MIRT2280967	hsa-miR-3928	CLIP-seq
MIRT1179212	hsa-miR-4279	CLIP-seq
MIRT2280968	hsa-miR-4438	CLIP-seq
MIRT2280969	hsa-miR-4480	CLIP-seq
MIRT2280970	hsa-miR-449c	CLIP-seq
MIRT2280971	hsa-miR-4525	CLIP-seq
MIRT2280972	hsa-miR-4526	CLIP-seq
MIRT2280973	hsa-miR-4763-3p	CLIP-seq
MIRT2280974	hsa-miR-484	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280957	hsa-miR-1207-5p	CLIP-seq
MIRT1179204	hsa-miR-145	CLIP-seq
MIRT2280958	hsa-miR-1909	CLIP-seq
MIRT2280959	hsa-miR-2277-3p	CLIP-seq
MIRT2280960	hsa-miR-2682	CLIP-seq
MIRT2280961	hsa-miR-3155	CLIP-seq
MIRT2280962	hsa-miR-3155b	CLIP-seq
MIRT2280963	hsa-miR-3177-5p	CLIP-seq
MIRT2280964	hsa-miR-3185	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280966	hsa-miR-3915	CLIP-seq
MIRT2280967	hsa-miR-3928	CLIP-seq
MIRT2280968	hsa-miR-4438	CLIP-seq
MIRT2280969	hsa-miR-4480	CLIP-seq
MIRT2280970	hsa-miR-449c	CLIP-seq
MIRT2280971	hsa-miR-4525	CLIP-seq
MIRT2280973	hsa-miR-4763-3p	CLIP-seq
MIRT2280974	hsa-miR-484	CLIP-seq
MIRT2280957	hsa-miR-1207-5p	CLIP-seq
MIRT1179204	hsa-miR-145	CLIP-seq
MIRT2280958	hsa-miR-1909	CLIP-seq
MIRT2280959	hsa-miR-2277-3p	CLIP-seq
MIRT2280960	hsa-miR-2682	CLIP-seq
MIRT2280961	hsa-miR-3155	CLIP-seq
MIRT2280962	hsa-miR-3155b	CLIP-seq
MIRT2280963	hsa-miR-3177-5p	CLIP-seq
MIRT2280964	hsa-miR-3185	CLIP-seq
MIRT1179208	hsa-miR-329	CLIP-seq
MIRT2280966	hsa-miR-3915	CLIP-seq
MIRT2280967	hsa-miR-3928	CLIP-seq
MIRT2280968	hsa-miR-4438	CLIP-seq
MIRT2280969	hsa-miR-4480	CLIP-seq
MIRT2280970	hsa-miR-449c	CLIP-seq
MIRT2280971	hsa-miR-4525	CLIP-seq
MIRT2280973	hsa-miR-4763-3p	CLIP-seq
MIRT2280974	hsa-miR-484	CLIP-seq

Show/Hide all (50)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003954	Function	NADH dehydrogenase activity	IMP	14749350
GO:0005515	Function	Protein binding	IPI	15250827, 19463981, 19688755, 20406883, 24089531, 24344204, 27499296, 28514442, 32807793, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	9585441
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	NAS	9647766
GO:0005743	Component	Mitochondrial inner membrane	IDA	28844695
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	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	IMP	30922174
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9647766, 9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IEA
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	22036843, 30922174
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	28031252
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:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IEA
GO:0019826	Function	Oxygen sensor activity	IEA
GO:0019826	Function	Oxygen sensor activity	IMP	30922174
GO:0022008	Process	Neurogenesis	IEA
GO:0022008	Process	Neurogenesis	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	19725078
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	ISS
GO:0042063	Process	Gliogenesis	IEA
GO:0042063	Process	Gliogenesis	ISS
GO:0042775	Process	Mitochondrial ATP synthesis coupled electron transport	IMP	24746669
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, 17209039
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	11112787, 24746669
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:0046872	Function	Metal ion binding	IEA
GO:0048038	Function	Quinone binding	IEA
GO:0051287	Function	NAD binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0061351	Process	Neural precursor cell proliferation	IEA
GO:0061351	Process	Neural precursor cell proliferation	ISS
GO:0071453	Process	Cellular response to oxygen levels	IEA
GO:0071453	Process	Cellular response to oxygen levels	IMP	30922174
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602985	7708	ENSG00000158864

O75306

Protein name

NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial (EC 7.1.1.2) (Complex I-49kD) (CI-49kD) (NADH-ubiquinone oxidoreductase 49 kDa subunit)

Protein function

Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22036843, PubMed:28031252, Pu

PDB

5XTB , 5XTC , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00346	Complex1_49kDa	193 → 463	Respiratory-chain NADH dehydrogenase, 49 Kd subunit	Family

Sequence

MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAH
WKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGT
EKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRL
LNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGL
MDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQW
DLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDD
AKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPY
RCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR

Sequence length

463

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

139

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leber optic atrophy	Likely pathogenic	rs1553249704	RCV000625868
Leber-like hereditary optic neuropathy, autosomal recessive 2	Pathogenic	rs373835897	RCV003389357
Mitochondrial complex I deficiency, nuclear type 6	Pathogenic; Likely pathogenic	rs121434428, rs121434429	RCV000007102 RCV000007103

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Uncertain significance	rs41270845	RCV005891498
Colon adenocarcinoma	-	rs1665273085	RCV005930096
Colorectal cancer	Conflicting classifications of pathogenicity	rs190184430	RCV005886717
Familial cancer of breast	Conflicting classifications of pathogenicity	rs190184430, rs35086265, rs147235167	RCV005886715 RCV005893531 RCV005900849
Gastric cancer	Conflicting classifications of pathogenicity	rs190184430, rs149789018	RCV005886718 RCV005891501
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	rs149789018	RCV005891500
Lung cancer	Uncertain significance	rs145959971	RCV005893536
Malignant tumor of urinary bladder	Uncertain significance	rs145959971	RCV005893533
Melanoma	Conflicting classifications of pathogenicity	rs190184430	RCV005886721
Mitochondrial complex I deficiency	Conflicting classifications of pathogenicity; Uncertain significance	rs150667550, rs886045465, rs10629771, rs886045468, rs776704187, rs750838845	RCV000778944 RCV000357248 RCV000317766 RCV000267579 RCV000343322 RCV000400389 RCV000378510 RCV000260184
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs775653766, rs11576415, rs1136207, rs76309459, rs202121443, rs142594036, rs11265565, rs190184430, rs74124661, rs201554004, rs774162709, rs41428447, rs144937332, rs35086265, rs144411579 View all (28 more)	RCV001335147 RCV000306851 RCV000367763 RCV000319217 RCV000286025 RCV001098904 RCV000397312 RCV000275644 RCV001100892 RCV000269081 RCV001332476 RCV001098903 RCV000346933 RCV001098905 RCV001100725 RCV000761488 RCV000308844 RCV000366006 RCV000276914 RCV000289999 RCV000400511 RCV000371628 RCV000315544 RCV000320283 RCV000278644 RCV000329593 RCV000284939 RCV000363834 RCV000318843 RCV000377195 RCV000336009 RCV000305513 RCV000357971 RCV000400876 RCV000326214 RCV000369303 RCV000386683 RCV000280649 RCV000397307 RCV001100981 RCV001100983 RCV001097157 RCV000984961 RCV001100982
NDUFS2-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	rs142594036, rs190184430, rs763804955, rs139019320, rs755626092, rs41428447, rs35086265, rs186476170, rs375549956, rs755604585, rs997237404, rs149953813, rs748230530	RCV003905210 RCV003965059 RCV003893288 RCV003936384 RCV003917798 RCV003955193 RCV004757162 RCV004757163 RCV003966606 RCV003959587 RCV003962183 RCV003962854 RCV003923077
Nonpapillary renal cell carcinoma	Uncertain significance	rs145959971	RCV005893534
Optic atrophy	Conflicting classifications of pathogenicity	rs190184430	RCV004815196
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Uncertain significance	rs190184430, rs145959971, rs149789018	RCV005886719 RCV005893535 RCV005891502
Sarcoma	Conflicting classifications of pathogenicity; Uncertain significance	rs35086265, rs563669084	RCV005893532 RCV005891499
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs190184430	RCV005886720
Uterine corpus endometrial carcinoma	-; Conflicting classifications of pathogenicity	rs2525722180, rs147235167	RCV005931960 RCV005900850
Uveal melanoma	Conflicting classifications of pathogenicity	rs190184430	RCV005886716

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Renal Cell	Associate	35414767
Cardiomyopathies	Associate	14729820
COVID 19	Associate	36075471
Keshan disease	Associate	29321553
Leigh Disease	Associate	20819849, 27502960, 36675121
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Associate	20819849
Lung Neoplasms	Associate	30885944
Mitochondrial complex I deficiency	Associate	15576045, 18435906, 20819849
Mitochondrial Encephalomyopathies	Associate	14729820, 15576045
Neoplasm Metastasis	Associate	30885944, 35414767
Neoplasms	Associate	30885944
Optic Atrophy Hereditary Leber	Associate	33918393, 37071596, 37734847
Pancreatic Neoplasms	Associate	38195952
Schizophrenia	Associate	26053550

NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2)