Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	4715
Gene name	NADH:ubiquinone oxidoreductase subunit B9
Gene symbol	NDUFB9
Synonyms (NCBI Gene)	B22CI-B22LYRM3MC1DN24UQOR22
Chromosome	8
Chromosome location	8q24.13
Summary	The protein encoded by this gene is a subunit of the mitochondrial oxidative phosphorylation complex I (nicotinamide adenine dinucleotide: ubiquinone oxidoreductase). Complex I is localized to the inner mitochondrial membrane and functions to dehydrogenat

SNP ID	Visualize variation	Clinical significance	Consequence
rs140417066	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs776388520	T>C	Pathogenic	Missense variant, coding sequence variant
rs1085307890	G>T	Likely-pathogenic	Intron variant

14 Show/Hide all (14)

miRTarBase ID	miRNA	Experiments
MIRT1179057	hsa-miR-1296	CLIP-seq
MIRT1179058	hsa-miR-194	CLIP-seq
MIRT1179059	hsa-miR-2909	CLIP-seq
MIRT1179060	hsa-miR-3607-3p	CLIP-seq
MIRT1179061	hsa-miR-3614-5p	CLIP-seq
MIRT1179062	hsa-miR-3686	CLIP-seq
MIRT1179063	hsa-miR-4436b-3p	CLIP-seq
MIRT1179064	hsa-miR-4761-3p	CLIP-seq
MIRT1179065	hsa-miR-4803	CLIP-seq
MIRT1179066	hsa-miR-519a	CLIP-seq
MIRT1179067	hsa-miR-519b-3p	CLIP-seq
MIRT1179068	hsa-miR-519c-3p	CLIP-seq
MIRT2051764	hsa-miR-4420	CLIP-seq
MIRT1179061	hsa-miR-3614-5p	CLIP-seq

22 Show/Hide all (22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 17500595, 25416956, 28514442, 32296183, 32814053, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
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	8661098
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	TAS	8661098
GO:0007605	Process	Sensory perception of sound	TAS	8661098
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	TAS	8661098
GO:0009060	Process	Aerobic respiration	NAS	30030361
GO:0016020	Component	Membrane	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
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
601445	7704	ENSG00000147684

Q9Y6M9

Protein name

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 9 (Complex I-B22) (CI-B22) (LYR motif-containing protein 3) (NADH-ubiquinone oxidoreductase B22 subunit)

Protein function

Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed to be not involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediat

PDB

5XTC , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05347	Complex1_LYR	14 → 73	Complex 1 protein (LYR family)	Family

Sequence

MAFLASGPYLTHQQKVLRLYKRALRHLESWCVQRDKYRYFACLMRARFEEHKNEKDMAKA
TQLLKEAEEEFWYRQHPQPYIFPDSPGGTSYERYDCYKVPEWCLDDWHPSEKAMYPDYFA
KREQWKKLRRESWEREVKQLQEETPPGGPLTEALPPARKEGDLPPLWWYIVTRPRERPM

Sequence length

179

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Oxidative phosphorylation	Respiratory electron transport
Metabolic pathways	Complex I biogenesis
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

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)

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 24	Pathogenic	rs776388520	RCV000055653	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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.
MALIGNANT GLIOMA	—	GWAS catalog	35887658	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	22200994	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
mitochondrial disease	—	ClinGen	ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NDUFB9-related disorder	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	27082954	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (33)
Asthma	Asthma	Pubtator	38375886	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Nocturnal frontal lobe epilepsy	Pubtator	19237585	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Branchio-Oto-Renal Syndrome	Branchiootorenal Syndrome	BEFREE	10077726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26641458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26641458	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	40305339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	40305339	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35550147	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytoid Cardiomyopathy	Histiocytoid Cardiomyopathy	BEFREE	25921236		★★★★★ ★☆☆☆☆ 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
Leukodystrophy	Leukodystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26641458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	26082173	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	22200994		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	22200994		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	22200994		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24	Mitochondrial Complex Deficiency	UNIPROT_DG	22200994		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	24027017	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	37405988	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	GWASCAT_DG	27082954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ 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

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
NDUFA8	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	5	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
NDUFB10	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	5	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
NDUFA11	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	5	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
NDUFA6	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	10	["Oxidative phosphorylation","Thermogenesis","Retrograde endocannabinoid signaling","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport","Complex I biogenesis"]	5	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","GWAS catalog (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]
UQCRH	2	["Mitochondrial complex deficiency","Mitochondrial disease"]	8	["Oxidative phosphorylation","Thermogenesis","Non-alcoholic fatty liver disease","Parkinson disease","Prion disease","Chemical carcinogenesis - reactive oxygen species","Diabetic cardiomyopathy","Respiratory electron transport"]	5	["ClinVar (Mitochondrial complex deficiency)","Disgenet (Mitochondrial complex deficiency)","GenCC (Mitochondrial complex deficiency)","HPO (Mitochondrial complex deficiency)","ClinGen (Mitochondrial disease)"]

NDUFB9 (NADH:ubiquinone oxidoreductase subunit B9)

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