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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4695
Gene name	NADH:ubiquinone oxidoreductase subunit A2
Gene symbol	NDUFA2
Synonyms (NCBI Gene)	B8CD14CIB8MC1DN13
Chromosome	5
Chromosome location	5q31.3
Summary	The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating

Show/Hide all (95)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048675	hsa-miR-99a-5p	CLASH	23622248
MIRT048578	hsa-miR-100-5p	CLASH	23622248
MIRT045264	hsa-miR-186-5p	CLASH	23622248
MIRT461746	hsa-miR-3936	PAR-CLIP	23592263
MIRT461745	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT461744	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT461743	hsa-miR-140-5p	PAR-CLIP	23592263
MIRT461742	hsa-miR-5693	PAR-CLIP	23592263
MIRT461741	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT461740	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT461739	hsa-miR-4751	PAR-CLIP	23592263
MIRT461738	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT461737	hsa-miR-3132	PAR-CLIP	23592263
MIRT461736	hsa-miR-4451	PAR-CLIP	23592263
MIRT461735	hsa-miR-656-5p	PAR-CLIP	23592263
MIRT461734	hsa-miR-1273g-5p	PAR-CLIP	23592263
MIRT461733	hsa-miR-1224-5p	PAR-CLIP	23592263
MIRT461732	hsa-miR-6836-3p	PAR-CLIP	23592263
MIRT461731	hsa-miR-3152-5p	PAR-CLIP	23592263
MIRT461746	hsa-miR-3936	PAR-CLIP	23592263
MIRT461745	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT461744	hsa-miR-6755-5p	PAR-CLIP	23592263
MIRT461743	hsa-miR-140-5p	PAR-CLIP	23592263
MIRT461742	hsa-miR-5693	PAR-CLIP	23592263
MIRT461741	hsa-miR-194-3p	PAR-CLIP	23592263
MIRT461740	hsa-miR-5004-5p	PAR-CLIP	23592263
MIRT461739	hsa-miR-4751	PAR-CLIP	23592263
MIRT461738	hsa-miR-197-5p	PAR-CLIP	23592263
MIRT461737	hsa-miR-3132	PAR-CLIP	23592263
MIRT461736	hsa-miR-4451	PAR-CLIP	23592263
MIRT461735	hsa-miR-656-5p	PAR-CLIP	23592263
MIRT461734	hsa-miR-1273g-5p	PAR-CLIP	23592263
MIRT461733	hsa-miR-1224-5p	PAR-CLIP	23592263
MIRT461732	hsa-miR-6836-3p	PAR-CLIP	23592263
MIRT461731	hsa-miR-3152-5p	PAR-CLIP	23592263
MIRT1178661	hsa-miR-23a	CLIP-seq
MIRT1178662	hsa-miR-23b	CLIP-seq
MIRT1178663	hsa-miR-23c	CLIP-seq
MIRT1178664	hsa-miR-3120-3p	CLIP-seq
MIRT1178665	hsa-miR-3155	CLIP-seq
MIRT1178666	hsa-miR-3155b	CLIP-seq
MIRT1178667	hsa-miR-338-3p	CLIP-seq
MIRT1178668	hsa-miR-3915	CLIP-seq
MIRT1178669	hsa-miR-3928	CLIP-seq
MIRT1178670	hsa-miR-4251	CLIP-seq
MIRT1178671	hsa-miR-4324	CLIP-seq
MIRT1178672	hsa-miR-4528	CLIP-seq
MIRT1178673	hsa-miR-4530	CLIP-seq
MIRT1178674	hsa-miR-484	CLIP-seq
MIRT1178675	hsa-miR-5096	CLIP-seq
MIRT1178676	hsa-miR-539	CLIP-seq
MIRT1178677	hsa-miR-548l	CLIP-seq
MIRT1178678	hsa-miR-922	CLIP-seq
MIRT1178661	hsa-miR-23a	CLIP-seq
MIRT1178662	hsa-miR-23b	CLIP-seq
MIRT1178663	hsa-miR-23c	CLIP-seq
MIRT1178667	hsa-miR-338-3p	CLIP-seq
MIRT1178672	hsa-miR-4528	CLIP-seq
MIRT1178673	hsa-miR-4530	CLIP-seq
MIRT1178675	hsa-miR-5096	CLIP-seq
MIRT1178678	hsa-miR-922	CLIP-seq
MIRT2051720	hsa-miR-1273g	CLIP-seq
MIRT2051721	hsa-miR-4774-3p	CLIP-seq
MIRT2051720	hsa-miR-1273g	CLIP-seq
MIRT1178661	hsa-miR-23a	CLIP-seq
MIRT1178662	hsa-miR-23b	CLIP-seq
MIRT1178663	hsa-miR-23c	CLIP-seq
MIRT1178664	hsa-miR-3120-3p	CLIP-seq
MIRT1178665	hsa-miR-3155	CLIP-seq
MIRT1178666	hsa-miR-3155b	CLIP-seq
MIRT2280758	hsa-miR-326	CLIP-seq
MIRT2280759	hsa-miR-330-5p	CLIP-seq
MIRT1178667	hsa-miR-338-3p	CLIP-seq
MIRT2280760	hsa-miR-3612	CLIP-seq
MIRT1178668	hsa-miR-3915	CLIP-seq
MIRT1178669	hsa-miR-3928	CLIP-seq
MIRT2280761	hsa-miR-4283	CLIP-seq
MIRT2280762	hsa-miR-4443	CLIP-seq
MIRT2280763	hsa-miR-4489	CLIP-seq
MIRT1178672	hsa-miR-4528	CLIP-seq
MIRT1178673	hsa-miR-4530	CLIP-seq
MIRT2280764	hsa-miR-4667-5p	CLIP-seq
MIRT2280765	hsa-miR-4675	CLIP-seq
MIRT2280766	hsa-miR-4687-3p	CLIP-seq
MIRT2280767	hsa-miR-4700-5p	CLIP-seq
MIRT2280768	hsa-miR-4741	CLIP-seq
MIRT2051721	hsa-miR-4774-3p	CLIP-seq
MIRT1178674	hsa-miR-484	CLIP-seq
MIRT2280769	hsa-miR-500a	CLIP-seq
MIRT1178675	hsa-miR-5096	CLIP-seq
MIRT1178677	hsa-miR-548l	CLIP-seq
MIRT2280770	hsa-miR-637	CLIP-seq
MIRT2280771	hsa-miR-650	CLIP-seq
MIRT2280772	hsa-miR-760	CLIP-seq
MIRT1178678	hsa-miR-922	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001835	Process	Blastocyst hatching	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	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	17209039
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, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	NAS	9878551
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
602137	7685	ENSG00000131495

O43678

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 (Complex I-B8) (CI-B8) (NADH-ubiquinone oxidoreductase B8 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

1S3A , 5XTB , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05047	L51_S25_CI-B8	33 → 84	Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain	Domain

Sequence

MAAAAASRGVGAKLGLREIRIHLCQRSPGSQGVRDFIEKRYVELKKANPDLPILIRECSD
VQPKLWARYAFGQETNVPLNNFSADQVTRALENVLSGKA

Sequence length

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cystic Leukoencephalopathy	Pathogenic	rs757982865	RCV000516026
Mitochondrial complex I deficiency, nuclear type 13	Pathogenic	rs757982865, rs1168752295, rs1757460270	RCV001256006 RCV000007945 RCV001256008

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Conflicting classifications of pathogenicity	rs201963018	RCV005896449
Gastric cancer	Conflicting classifications of pathogenicity	rs35672074	RCV005886696
Leigh syndrome	Conflicting classifications of pathogenicity	rs375905956	RCV001335039
Malignant tumor of esophagus	Conflicting classifications of pathogenicity	rs35672074	RCV005886695
Mitochondrial complex I deficiency, nuclear type 1	Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs35672074, rs745399748, rs778593, rs200255683, rs886060016, rs748460855, rs778594, rs747127939, rs79526416, rs143857164, rs886060017, rs1255776529, rs760264090	RCV001155276 RCV000298528 RCV000355665 RCV000259757 RCV000329989 RCV000276097 RCV000333463 RCV000386841 RCV000360340 RCV000263224 RCV000380861 RCV001155277 RCV001156939
NDUFA2-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	rs138059203, rs35672074, rs73271536, rs2481135366, rs757200194, rs370364457	RCV004757962 RCV003965058 RCV003952663 RCV003979215 RCV003959920 RCV003905600

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
alpha Thalassemia	Associate	37796611
Arrhythmias Cardiac	Associate	32077934
Cell Transformation Neoplastic	Associate	32802869
Colorectal Neoplasms	Associate	32802869
Common Variable Immunodeficiency	Associate	9508785
Dementia	Associate	35902387
IgA Deficiency	Associate	19834793, 9508785
Leigh Disease	Associate	18513682
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	9593785
Melanoma	Associate	7525578
Mitochondrial Diseases	Associate	18513682
Myasthenic Syndromes Congenital	Associate	29367459
Parkinson Disease	Associate	22921536
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	36738086

NDUFA2 (NADH:ubiquinone oxidoreductase subunit A2)