NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)

Gene

• Entrez ID: 91942
• Gene name: NADH:ubiquinone oxidoreductase complex assembly factor 2
• Gene symbol: NDUFAF2
• Synonyms (NCBI Gene): B17.2L, MC1DN10, MMTN, NDUFA12L, mimitin
• 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

SNPs

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

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 609653
• HGNC: 28086
• e!Ensembl: 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

Pathways

KEGG:

Thermogenesis

Reactome:

Complex I biogenesis

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Leigh syndrome	Likely pathogenic; Pathogenic	rs137852863, rs2531892073, rs772294726, rs1752321639	RCV000679870 RCV003123556 RCV000587093 RCV001264587	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 1	Likely pathogenic; Pathogenic	rs137852863	RCV000779476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial complex I deficiency, nuclear type 10	Pathogenic; Likely pathogenic	rs1561557254, rs137852863, rs1554076324, rs2531892396, rs772294726, rs1554076306, rs1554076309	RCV001784719 RCV000001661 RCV000001662 RCV005036970 RCV002497240 RCV000590857 RCV000590851	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES, METABOLIC, INBORN	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCKAYNE SYNDROME, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME WITH LEUKODYSTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	Uncertain significance	ClinVar Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UV-SENSITIVE SYNDROME 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	37545529	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Apnea	Apnea	Pubtator	20571988	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	20308990		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	16200211	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Inborn Metabolic Diseases	Central Nervous System Inborn Metabolic Diseases	CTD_human_DG	16200211		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	23702311		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Gastritis	Pubtator	26130415, 28562347	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated complex I deficiency	Isolated Complex I Deficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	CLINVAR_DG	16200211, 20818383		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	BEFREE	20571988, 27344355		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh Syndrome	GENOMICS_ENGLAND_DG	20571988, 27604308		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	20571988	Associate	★☆☆☆☆ Found in Text Mining only
Leigh syndrome with leukodystrophy	Leigh Syndrome With Leukodystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukodystrophy	Leukodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	ORPHANET_DG	16200211		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	CLINVAR_DG	16200211, 26795593		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	16200211, 20571988	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	20571988, 22644603, 27604308		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	Mitochondrial Complex Deficiency	CLINVAR_DG	20571988		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10	Mitochondrial Complex Deficiency	GENOMICS_ENGLAND_DG	20571988, 20818383		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	23702311		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Myopathies	Mitochondrial myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10649489, 16200211, 16950771, 18180188, 19384974, 20571988, 20818383, 22644603, 26795593		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	23702311		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	20571988	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26033570	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	27182965, 28892059		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	36703939	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	15774466		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15774466		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26130415, 28562347, 30249552	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	Pubtator	33463119	Associate	★☆☆☆☆ Found in Text Mining only