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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	4720
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase core subunit S2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFS2
Synonyms (NCBI Gene) Gene synonyms aliases	CI-49, LHONAR2, MC1DN6
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

Protein

UniProt ID

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

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Mitochondrial Complex Deficiency	Mitochondrial complex 1 deficiency, nuclear type 6	rs121434428, rs121434429	N/A
Hereditary Leber Optic Atrophy	Leber optic atrophy	rs1553249704	N/A

Show/Hide Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Asthma	N/A	N/A	GWAS
Leber hereditary optic neuropathy	Leber hereditary optic neuropathy	N/A	N/A	GenCC
Leigh Syndrome	Leigh syndrome	N/A	N/A	GenCC
Leigh Syndrome With Cardiomyopathy	Leigh syndrome with cardiomyopathy	N/A	N/A	GenCC
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)