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.	4715
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase subunit B9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFB9
Synonyms (NCBI Gene) Gene synonyms aliases	B22, CI-B22, LYRM3, MC1DN24, UQOR22
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MC1DN24
Chromosome Chromosome number	8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	8q24.13
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(3)

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

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

Show/Hide all(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 17500595, 25416956, 32296183, 32814053
GO:0005739	Component	Mitochondrion	IDA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005747	Component	Mitochondrial respiratory chain complex I	IBA	21873635
GO:0005747	Component	Mitochondrial respiratory chain complex I	IDA	12611891, 27626371
GO:0005747	Component	Mitochondrial respiratory chain complex I	NAS	9878551
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	TAS
GO:0007605	Process	Sensory perception of sound	TAS	8661098
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	27626371
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	TAS

MIM	HGNC	e!Ensembl
601445	7704	ENSG00000147684

Protein

UniProt ID

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		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 (11)

Disease term	Disease name	dbSNP ID	References
Causal
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625 View all (860 more)
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	rs63750743, rs104894655, rs121908987, rs587776643, rs28938173, rs121908989, rs121908991, rs267606977, rs267606978, rs193922384, rs121909374, rs886041030, rs886041031, rs121909375, rs121909377 View all (752 more)
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604 View all (6 more)
Leukoencephalopathy	Leukoencephalopathy	rs34757931
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863 View all (210 more)	22200994
Mitochondrial myopathy	Mitochondrial Myopathies	rs121434454
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Ptosis	Blepharoptosis, Ptosis	ClinVar
Mitochondrial Complex Deficiency	mitochondrial complex 1 deficiency, nuclear type 24, mitochondrial complex I deficiency	GenCC

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining
Asthma	Associate	38375886
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Associate	19237585
Breast Neoplasms	Inhibit	26641458
Diabetes Mellitus	Associate	40305339
Diabetic Neuropathies	Associate	40305339
Glioblastoma	Associate	35550147
Melanoma	Associate	26082173
Myotonic Dystrophy	Associate	24027017
Neoplasm Metastasis	Associate	26641458
Osteosarcoma	Associate	37405988
Severe Acute Respiratory Syndrome	Associate	38375886

NDUFB9 (NADH:ubiquinone oxidoreductase subunit B9)