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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4713
Gene name	NADH:ubiquinone oxidoreductase subunit B7
Gene symbol	NDUFB7
Synonyms (NCBI Gene)	B18CI-B18MC1DN39
Chromosome	19
Chromosome location	19p13.12
Summary	The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. It is located at the mitochondrial inner membrane. This protein has NADH dehydrogenase

Show/Hide all (20)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 32814053
GO:0005739	Component	Mitochondrion	HDA	20833797
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:0005758	Component	Mitochondrial intermembrane space	IDA	21310150
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0006120	Process	Mitochondrial electron transport, NADH to ubiquinone	NAS	9878551
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	IMP	33502047
GO:0008137	Function	NADH dehydrogenase (ubiquinone) activity	NAS	9878551
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:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
603842	7702	ENSG00000099795

P17568

Protein name

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 (Cell adhesion protein SQM1) (Complex I-B18) (CI-B18) (NADH-ubiquinone oxidoreductase B18 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
PF05676	NDUF_B7	40 → 102	NADH-ubiquinone oxidoreductase B18 subunit (NDUFB7)	Family

Sequence

MGAHLVRRYLGDASVEPDPLQMPTFPPDYGFPERKEREMVATQQEMMDAQLRLQLRDYCA
HHLIRLLKCKRDSFPNFLACKQERHDWDYCEHRDYVMRMKEFERERRLLQRKKRREKKAA
ELAKGQGPGEVDPKVAL

Sequence length

137

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 39	Likely pathogenic	rs2074094096	RCV002447260	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	Likely pathogenic	rs2074094096	RCV001293326	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (1)

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.
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Anemia Hemolytic	Stimulate	856385	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Pernicious	Associate	856385	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Associate	34344401	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Associate	21628452	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	26289852	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Associate	3578273	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Stimulate	6746903	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Associate	21628452, 3578273, 990715	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Stimulate	6594040	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Stimulate	856385	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy Progressive Multifocal	Stimulate	20105104	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Associate	21628452, 34764957	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Associate	6952946	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Associate	21628452	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Stimulate	17480220	★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Associate	2396862	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	32757436	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombocytopenia	Associate	2396862	★★★★★ ★☆☆☆☆ Found in Text Mining only

NDUFB7 (NADH:ubiquinone oxidoreductase subunit B7)