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	91942
Gene name	NADH:ubiquinone oxidoreductase complex assembly factor 2
Gene symbol	NDUFAF2
Synonyms (NCBI Gene)	B17.2LMC1DN10MMTNNDUFA12Lmimitin
Chromosome	5
Chromosome location	5q12.1
Summary	NADH:ubiquinone oxidoreductase (complex I) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs9885480	G>A	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs137852863	C>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs760647945	TTAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs772294726	G>A	Pathogenic	Coding sequence variant, stop gained
rs775605330	A>C,G	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT2051762	hsa-miR-591	CLIP-seq

Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 33961781, 34819669, 38949024
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	16200211, 22587331
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IBA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IEA
GO:0032981	Process	Mitochondrial respiratory chain complex I assembly	IMP	16200211
GO:0044877	Function	Protein-containing complex binding	IDA	16200211
GO:0045271	Component	Respiratory chain complex I	IEA
GO:0060271	Process	Cilium assembly	IMP	38949024
GO:0061179	Process	Negative regulation of insulin secretion involved in cellular response to glucose stimulus	IEA

MIM	HGNC	e!Ensembl
609653	28086	ENSG00000164182

Q8N183

Protein name

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2 (B17.2-like) (B17.2L) (Mimitin) (Myc-induced mitochondrial protein) (MMTN) (NDUFA12-like protein)

Protein function

Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believe

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05071	NDUFA12	20 → 135	NADH ubiquinone oxidoreductase subunit NDUFA12	Family

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in ESCC cells. Also expressed in heart, skeletal muscle, liver, and in fibroblasts. {ECO:0000269|PubMed:15774466, ECO:0000269|PubMed:16200211}.

Sequence

MGWSQDLFRALWRSLSREVKEHVGTDQFGNKYYYIPQYKNWRGQTIREKRIVEAANKKEV
DYEAGDIPTEWEAWIRRTRKTPPTMEEILKNEKHREEIKIKSQDFYEKEKLLSKETSEEL
LPPPVQTQIKGHASAPYFGKEEPSVAPSSTGKTFQPGSWMPRDGKSHNQ

Sequence length

169

Interactions

View interactions

	KEGG		Reactome
	Thermogenesis		Complex I biogenesis

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leigh syndrome	Likely pathogenic; Pathogenic	rs137852863, rs2531892073, rs772294726, rs1752321639	RCV000679870 RCV003123556 RCV000587093 RCV001264587
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs137852863	RCV000779476
Mitochondrial complex I deficiency, nuclear type 10	Pathogenic; Likely pathogenic	rs1561557254, rs137852863, rs1554076324, rs2531892396, rs772294726, rs1554076306, rs1554076309	RCV001784719 RCV000001661 RCV000001662 RCV005036970 RCV002497240 RCV000590857 RCV000590851

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Mitochondrial complex I deficiency	Uncertain significance	rs376045901, rs886060725, rs886060723, rs886060724	RCV000358426 RCV000268762 RCV000312758 RCV000266073

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	36703939
Alzheimer Disease	Associate	37545529
Apnea	Associate	20571988
Brain Diseases	Associate	16200211
Gastritis Atrophic	Associate	26130415, 28562347
Helicobacter Infections	Associate	30249552
Leigh Disease	Associate	20571988
Mitochondrial complex I deficiency	Associate	16200211, 20571988
Nystagmus Pathologic	Associate	20571988
Ovarian Neoplasms	Associate	26033570
Retinoblastoma	Associate	36703939
Stomach Neoplasms	Associate	26130415, 28562347, 30249552
Vitiligo	Associate	33463119

NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)