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	55967
Gene name	NADH:ubiquinone oxidoreductase subunit A12
Gene symbol	NDUFA12
Synonyms (NCBI Gene)	B17.2DAP13MC1DN23
Chromosome	12
Chromosome location	12q22
Summary	This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutati

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907139	G>A,C	Pathogenic	Intron variant, missense variant, coding sequence variant, stop gained
rs1411237396	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs1592704794	C>A	Pathogenic	Stop gained, intron variant, coding sequence variant

139

Show/Hide all (139)

miRTarBase ID	miRNA	Experiments	Reference
MIRT514618	hsa-miR-548ag	PAR-CLIP	20371350
MIRT514617	hsa-miR-548ai	PAR-CLIP	20371350
MIRT514616	hsa-miR-548ba	PAR-CLIP	20371350
MIRT514615	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT514614	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT514613	hsa-miR-203b-5p	PAR-CLIP	20371350
MIRT514612	hsa-miR-6718-5p	PAR-CLIP	20371350
MIRT514611	hsa-miR-1279	PAR-CLIP	20371350
MIRT514610	hsa-miR-6080	PAR-CLIP	20371350
MIRT514609	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT514608	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT514607	hsa-miR-8089	PAR-CLIP	20371350
MIRT514606	hsa-miR-637	PAR-CLIP	20371350
MIRT514605	hsa-miR-7155-5p	PAR-CLIP	20371350
MIRT514604	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT514603	hsa-miR-3529-5p	PAR-CLIP	20371350
MIRT514602	hsa-miR-379-5p	PAR-CLIP	20371350
MIRT514601	hsa-miR-4451	PAR-CLIP	20371350
MIRT514600	hsa-miR-4536-5p	PAR-CLIP	20371350
MIRT514599	hsa-miR-4460	PAR-CLIP	20371350
MIRT514598	hsa-miR-4314	PAR-CLIP	20371350
MIRT514597	hsa-miR-4273	PAR-CLIP	20371350
MIRT514596	hsa-miR-7156-5p	PAR-CLIP	20371350
MIRT514595	hsa-miR-4677-5p	PAR-CLIP	20371350
MIRT514594	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT562799	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT562798	hsa-miR-4790-3p	PAR-CLIP	20371350
MIRT562797	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT562796	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT562795	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT562794	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT562793	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT562792	hsa-miR-1257	PAR-CLIP	20371350
MIRT562791	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT562790	hsa-miR-377-3p	PAR-CLIP	20371350
MIRT562789	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT562788	hsa-miR-3611	PAR-CLIP	20371350
MIRT514618	hsa-miR-548ag	PAR-CLIP	23446348
MIRT514617	hsa-miR-548ai	PAR-CLIP	23446348
MIRT514616	hsa-miR-548ba	PAR-CLIP	23446348
MIRT514615	hsa-miR-570-5p	PAR-CLIP	23446348
MIRT514614	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT514613	hsa-miR-203b-5p	PAR-CLIP	23446348
MIRT514612	hsa-miR-6718-5p	PAR-CLIP	23446348
MIRT514611	hsa-miR-1279	PAR-CLIP	23446348
MIRT514610	hsa-miR-6080	PAR-CLIP	23446348
MIRT514609	hsa-miR-4667-5p	PAR-CLIP	23446348
MIRT514608	hsa-miR-4700-5p	PAR-CLIP	23446348
MIRT514607	hsa-miR-8089	PAR-CLIP	23446348
MIRT514606	hsa-miR-637	PAR-CLIP	23446348
MIRT514605	hsa-miR-7155-5p	PAR-CLIP	23446348
MIRT514604	hsa-miR-4650-3p	PAR-CLIP	23446348
MIRT514603	hsa-miR-3529-5p	PAR-CLIP	23446348
MIRT514602	hsa-miR-379-5p	PAR-CLIP	23446348
MIRT514601	hsa-miR-4451	PAR-CLIP	23446348
MIRT514600	hsa-miR-4536-5p	PAR-CLIP	23446348
MIRT514599	hsa-miR-4460	PAR-CLIP	23446348
MIRT514598	hsa-miR-4314	PAR-CLIP	23446348
MIRT514597	hsa-miR-4273	PAR-CLIP	23446348
MIRT514596	hsa-miR-7156-5p	PAR-CLIP	23446348
MIRT514595	hsa-miR-4677-5p	PAR-CLIP	23446348
MIRT514594	hsa-miR-6739-3p	PAR-CLIP	23446348
MIRT514618	hsa-miR-548ag	PAR-CLIP	20371350
MIRT514617	hsa-miR-548ai	PAR-CLIP	20371350
MIRT514616	hsa-miR-548ba	PAR-CLIP	20371350
MIRT514615	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT514614	hsa-miR-5580-3p	PAR-CLIP	20371350
MIRT514613	hsa-miR-203b-5p	PAR-CLIP	20371350
MIRT514612	hsa-miR-6718-5p	PAR-CLIP	20371350
MIRT514611	hsa-miR-1279	PAR-CLIP	20371350
MIRT514610	hsa-miR-6080	PAR-CLIP	20371350
MIRT514609	hsa-miR-4667-5p	PAR-CLIP	20371350
MIRT514608	hsa-miR-4700-5p	PAR-CLIP	20371350
MIRT514607	hsa-miR-8089	PAR-CLIP	20371350
MIRT514606	hsa-miR-637	PAR-CLIP	20371350
MIRT514605	hsa-miR-7155-5p	PAR-CLIP	20371350
MIRT514604	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT514603	hsa-miR-3529-5p	PAR-CLIP	20371350
MIRT514602	hsa-miR-379-5p	PAR-CLIP	20371350
MIRT514601	hsa-miR-4451	PAR-CLIP	20371350
MIRT514600	hsa-miR-4536-5p	PAR-CLIP	20371350
MIRT514599	hsa-miR-4460	PAR-CLIP	20371350
MIRT514598	hsa-miR-4314	PAR-CLIP	20371350
MIRT514597	hsa-miR-4273	PAR-CLIP	20371350
MIRT514596	hsa-miR-7156-5p	PAR-CLIP	20371350
MIRT514595	hsa-miR-4677-5p	PAR-CLIP	20371350
MIRT514594	hsa-miR-6739-3p	PAR-CLIP	20371350
MIRT562799	hsa-miR-590-3p	PAR-CLIP	20371350
MIRT562798	hsa-miR-4790-3p	PAR-CLIP	20371350
MIRT562797	hsa-miR-30a-5p	PAR-CLIP	20371350
MIRT562796	hsa-miR-30b-5p	PAR-CLIP	20371350
MIRT562795	hsa-miR-30c-5p	PAR-CLIP	20371350
MIRT562794	hsa-miR-30d-5p	PAR-CLIP	20371350
MIRT562793	hsa-miR-30e-5p	PAR-CLIP	20371350
MIRT562792	hsa-miR-1257	PAR-CLIP	20371350
MIRT562791	hsa-miR-3606-5p	PAR-CLIP	20371350
MIRT562790	hsa-miR-377-3p	PAR-CLIP	20371350
MIRT562789	hsa-miR-183-3p	PAR-CLIP	20371350
MIRT562788	hsa-miR-3611	PAR-CLIP	20371350
MIRT514618	hsa-miR-548ag	PAR-CLIP	23446348
MIRT514617	hsa-miR-548ai	PAR-CLIP	23446348
MIRT514616	hsa-miR-548ba	PAR-CLIP	23446348
MIRT514615	hsa-miR-570-5p	PAR-CLIP	23446348
MIRT514614	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT514613	hsa-miR-203b-5p	PAR-CLIP	23446348
MIRT514612	hsa-miR-6718-5p	PAR-CLIP	23446348
MIRT514611	hsa-miR-1279	PAR-CLIP	23446348
MIRT514610	hsa-miR-6080	PAR-CLIP	23446348
MIRT514609	hsa-miR-4667-5p	PAR-CLIP	23446348
MIRT514608	hsa-miR-4700-5p	PAR-CLIP	23446348
MIRT514607	hsa-miR-8089	PAR-CLIP	23446348
MIRT514606	hsa-miR-637	PAR-CLIP	23446348
MIRT514605	hsa-miR-7155-5p	PAR-CLIP	23446348
MIRT514604	hsa-miR-4650-3p	PAR-CLIP	23446348
MIRT514603	hsa-miR-3529-5p	PAR-CLIP	23446348
MIRT514602	hsa-miR-379-5p	PAR-CLIP	23446348
MIRT514601	hsa-miR-4451	PAR-CLIP	23446348
MIRT514600	hsa-miR-4536-5p	PAR-CLIP	23446348
MIRT514599	hsa-miR-4460	PAR-CLIP	23446348
MIRT514598	hsa-miR-4314	PAR-CLIP	23446348
MIRT514597	hsa-miR-4273	PAR-CLIP	23446348
MIRT514596	hsa-miR-7156-5p	PAR-CLIP	23446348
MIRT514595	hsa-miR-4677-5p	PAR-CLIP	23446348
MIRT514594	hsa-miR-6739-3p	PAR-CLIP	23446348
MIRT1178631	hsa-miR-30a	CLIP-seq
MIRT1178632	hsa-miR-30b	CLIP-seq
MIRT1178633	hsa-miR-30c	CLIP-seq
MIRT1178634	hsa-miR-30d	CLIP-seq
MIRT1178635	hsa-miR-30e	CLIP-seq
MIRT1178636	hsa-miR-3606	CLIP-seq
MIRT1178637	hsa-miR-377	CLIP-seq
MIRT1178638	hsa-miR-4666-5p	CLIP-seq
MIRT1178631	hsa-miR-30a	CLIP-seq
MIRT1178632	hsa-miR-30b	CLIP-seq
MIRT1178633	hsa-miR-30c	CLIP-seq
MIRT1178634	hsa-miR-30d	CLIP-seq
MIRT1178635	hsa-miR-30e	CLIP-seq
MIRT1178636	hsa-miR-3606	CLIP-seq
MIRT1178637	hsa-miR-377	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183
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:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	10830904
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	IEA
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, 27626371
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0045271	Component	Respiratory chain complex I	IMP	24746669
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
614530	23987	ENSG00000184752

Q9UI09

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 (13 kDa differentiation-associated protein) (Complex I-B17.2) (CI-B17.2) (CIB17.2) (NADH-ubiquinone oxidoreductase subunit B17.2)

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
PF05071	NDUFA12	36 → 139	NADH ubiquinone oxidoreductase subunit NDUFA12	Family

Sequence

MELVQVLKRGLQQITGHGGLRGYLRVFFRTNDAKVGTLVGEDKYGNKYYEDNKQFFGRHR
WVVYTTEMNGKNTFWDVDGSMVPPEWHRWLHSMTDDPPTTKPLTARKFIWTNHKFNVTGT
PEQYVPYSTTRKKIQEWIPPSTPYK

Sequence length

145

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
Mitochondrial complex I deficiency, nuclear type 23	Likely pathogenic; Pathogenic	rs774252307, rs747101350, rs2136056220, rs2136069811, rs1259705655, rs387907139, rs1411237396, rs1592704794	RCV001332284 RCV001598698 RCV001598699 RCV001598700 RCV002248456 RCV000024206 RCV000985206 RCV000988895 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SLC35A2-congenital disorder of glycosylation	Likely pathogenic	rs1411237396	RCV005861186	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (14)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leigh syndrome	Uncertain significance	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFA12-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (39)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	22273362	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer`s Disease	Alzheimer disease	GWASCAT_DG	24755620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer`s Disease	Alzheimer disease	GWASDB_DG	24755620		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18360708	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28730835	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28730835		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	21617257		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINGEN_DG	21617257, 24717771, 27509854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	21617257		★★★★★ ★☆☆☆☆ Found in Text Mining only
LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	Leigh Syndrome	CLINGEN_DG	21617257, 24717771, 27509854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome Due To Mitochondrial Complex II Deficiency	Leigh Syndrome	CLINGEN_DG	21617257, 24717771, 27509854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex III Deficiency	Leigh Syndrome	CLINGEN_DG	21617257, 24717771, 27509854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex IV Deficiency	Leigh Syndrome	CLINGEN_DG	21617257, 24717771, 27509854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh Syndrome due to Mitochondrial Complex V Deficiency	Leigh Syndrome	CLINGEN_DG	21617257, 24717771, 27509854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	38253683	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	21617257, 27604308		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mood swings	Mood swings	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Necrotizing encephalopathy, infantile subacute, of Leigh	Necrotizing encephalomyelopathy	CLINGEN_DG	21617257, 24717771, 27509854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28730835	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	37071596	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFA12 (NADH:ubiquinone oxidoreductase subunit A12)