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.	4714
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase subunit B8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFB8
Synonyms (NCBI Gene) Gene synonyms aliases	ASHI, CI-ASHI, MC1DN32
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MC1DN32
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q24.31

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1239013578	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs1264186261	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554843251	G>C	Pathogenic	Missense variant, coding sequence variant
rs1554843434	A>G	Pathogenic	Missense variant, coding sequence variant

Show/Hide all(26)

miRTarBase ID	miRNA	Experiments	Reference
MIRT037965	hsa-miR-505-5p	CLASH	23622248
MIRT1179050	hsa-miR-3126-5p	CLIP-seq
MIRT1179051	hsa-miR-3162-5p	CLIP-seq
MIRT1179052	hsa-miR-3167	CLIP-seq
MIRT1179053	hsa-miR-4419a	CLIP-seq
MIRT1179054	hsa-miR-4510	CLIP-seq
MIRT1179055	hsa-miR-513a-3p	CLIP-seq
MIRT1179056	hsa-miR-876-5p	CLIP-seq
MIRT2579333	hsa-miR-1289	CLIP-seq
MIRT2579334	hsa-miR-3125	CLIP-seq
MIRT1179050	hsa-miR-3126-5p	CLIP-seq
MIRT1179051	hsa-miR-3162-5p	CLIP-seq
MIRT1179052	hsa-miR-3167	CLIP-seq
MIRT2579335	hsa-miR-3916	CLIP-seq
MIRT1179053	hsa-miR-4419a	CLIP-seq
MIRT1179054	hsa-miR-4510	CLIP-seq
MIRT2579336	hsa-miR-4682	CLIP-seq
MIRT2579337	hsa-miR-4751	CLIP-seq
MIRT1179055	hsa-miR-513a-3p	CLIP-seq
MIRT2579338	hsa-miR-711	CLIP-seq
MIRT1179056	hsa-miR-876-5p	CLIP-seq
MIRT2579339	hsa-miR-877	CLIP-seq
MIRT1179051	hsa-miR-3162-5p	CLIP-seq
MIRT1179052	hsa-miR-3167	CLIP-seq
MIRT1179055	hsa-miR-513a-3p	CLIP-seq
MIRT1179056	hsa-miR-876-5p	CLIP-seq

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
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	IMP	19393246
GO:0005747	Component	Mitochondrial respiratory chain complex I	NAS	9878551
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	TAS
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
GO:0016021	Component	Integral component of membrane	IEA
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
602140	7703	ENSG00000166136

Protein

UniProt ID

O95169

Protein name

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial (Complex I-ASHI) (CI-ASHI) (NADH-ubiquinone oxidoreductase ASHI 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

5XTC , 5XTD , 5XTH , 5XTI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05821	NDUF_B8	15 → 186	NADH-ubiquinone oxidoreductase ASHI subunit (CI-ASHI or NDUFB8)	Family

Sequence

MAVARAGVLGVQWLQRASRNVMPLGARTASHMTKDMFPGPYPRTPEERAAAAKKYNMRVE
DYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTS
PTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQYPYNNLYLERGGDPSKEPER
VVHYEI

Sequence length

186

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		Mitochondrial protein import Respiratory electron transport Complex I biogenesis

Show/Hide Causal Diseases (10)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Cardiomyopathy	Cardiomyopathy, Dilated	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377 View all (900 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
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)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Mitochondrial complex deficiency	MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32	rs267606829, rs267606830, rs587776513, rs121918134, rs121918135, rs121918136, rs137853192, rs137853193, rs183973249, rs137853184, rs118203929, rs267606689, rs11544803, rs63751061, rs137852863 View all (210 more)	29429571, 27290639
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Source
Unknown
Congestive heart failure	Congestive heart failure	ClinVar
Renal dysplasia	Renal Cell Dysplasia, Renal dysplasia	ClinVar
Mitochondrial Complex Deficiency	mitochondrial complex 1 deficiency, nuclear type 32	GenCC
Leigh Syndrome	Leigh syndrome	GenCC
Leigh Syndrome With Cardiomyopathy	Leigh syndrome with cardiomyopathy	GenCC

Show/Hide Text Mining Associations (23)

Disease Name	Relationship Type	References
Associations from Text Mining
3 Methylglutaconic Aciduria	Associate	27290639
Arthritis Psoriatic	Associate	39684939
Basal Ganglia Diseases	Associate	27290639
Cardio Renal Syndrome	Associate	29429571
Death	Associate	27290639
Dermatitis Atopic	Associate	39684939
Developmental Disabilities	Associate	29429571
Glioma	Associate	34863158
Insomnia Fatal Familial	Inhibit	27338255
Mitochondrial complex I deficiency	Associate	29429571
Mitochondrial Diseases	Associate	27290639, 29429571, 31723016, 34806237, 35760101
Mitochondrial Encephalomyopathies	Associate	29429571
Mitochondrial Myopathies	Associate	34806237
Multiple Myeloma	Associate	36551283
Muscle Hypotonia	Associate	29429571
Nasopharyngeal Carcinoma	Associate	31723016
Neoplasms	Associate	31723016, 34863158
Obesity	Associate	37399741
Parkinson Disease	Associate	26605748
Respiratory Insufficiency	Associate	29429571
Scleroderma Systemic	Associate	39684939
Sepsis	Associate	28714002
Stomach Neoplasms	Associate	33607292

NDUFB8 (NADH:ubiquinone oxidoreductase subunit B8)