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.	91942
Gene name Gene Name - the full gene name approved by the HGNC.	NADH:ubiquinone oxidoreductase complex assembly factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NDUFAF2
Synonyms (NCBI Gene) Gene synonyms aliases	B17.2L, MC1DN10, MMTN, NDUFA12L, mimitin
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q12.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Protein

UniProt ID

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 (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
leigh syndrome	Leigh syndrome	rs772294726, rs137852863	N/A
Mitochondrial Complex Deficiency	Mitochondrial complex 1 deficiency, nuclear type 10, Mitochondrial complex I deficiency, nuclear type 1	rs772294726, rs1554076306, rs1554076309, rs137852863, rs1554076324	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Leigh Syndrome With Leukodystrophy	Leigh syndrome with leukodystrophy	N/A	N/A	GenCC
Parkinson Disease	Parkinson's disease	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)