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	55471
Gene name	NADH:ubiquinone oxidoreductase complex assembly factor 7
Gene symbol	NDUFAF7
Synonyms (NCBI Gene)	C2orf56MidAPRO1853
Chromosome	2
Chromosome location	2p22.2
Summary	This gene encodes an assembly factor protein which helps in the assembly and stabilization of Complex I, a large multi-subunit enzyme in the mitochondrial respiratory chain. Complex I is involved in several physiological activities in the cell, including

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SNP ID	Visualize variation	Clinical significance	Consequence
rs750543865	A>G	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT032361	hsa-let-7b-5p	Proteomics	18668040
MIRT052600	hsa-let-7a-5p	CLASH	23622248
MIRT725043	hsa-miR-3529-3p	HITS-CLIP	19536157
MIRT725042	hsa-miR-4802-3p	HITS-CLIP	19536157
MIRT725041	hsa-miR-300	HITS-CLIP	19536157
MIRT725040	hsa-miR-381-3p	HITS-CLIP	19536157
MIRT725039	hsa-miR-4666a-3p	HITS-CLIP	19536157
MIRT725038	hsa-miR-4781-3p	HITS-CLIP	19536157
MIRT725037	hsa-miR-323b-5p	HITS-CLIP	19536157
MIRT725036	hsa-miR-410-5p	HITS-CLIP	19536157
MIRT725035	hsa-miR-494-5p	HITS-CLIP	19536157
MIRT725034	hsa-miR-496	HITS-CLIP	19536157
MIRT725033	hsa-let-7a-3p	HITS-CLIP	19536157
MIRT725032	hsa-let-7b-3p	HITS-CLIP	19536157
MIRT725031	hsa-let-7f-1-3p	HITS-CLIP	19536157
MIRT725030	hsa-miR-98-3p	HITS-CLIP	19536157
MIRT725029	hsa-miR-190a-3p	HITS-CLIP	19536157
MIRT725043	hsa-miR-3529-3p	HITS-CLIP	19536157
MIRT725042	hsa-miR-4802-3p	HITS-CLIP	19536157
MIRT725041	hsa-miR-300	HITS-CLIP	19536157
MIRT725040	hsa-miR-381-3p	HITS-CLIP	19536157
MIRT725039	hsa-miR-4666a-3p	HITS-CLIP	19536157
MIRT725038	hsa-miR-4781-3p	HITS-CLIP	19536157
MIRT725037	hsa-miR-323b-5p	HITS-CLIP	19536157
MIRT725036	hsa-miR-410-5p	HITS-CLIP	19536157
MIRT725035	hsa-miR-494-5p	HITS-CLIP	19536157
MIRT725034	hsa-miR-496	HITS-CLIP	19536157
MIRT725033	hsa-let-7a-3p	HITS-CLIP	19536157
MIRT725032	hsa-let-7b-3p	HITS-CLIP	19536157
MIRT725031	hsa-let-7f-1-3p	HITS-CLIP	19536157
MIRT725030	hsa-miR-98-3p	HITS-CLIP	19536157
MIRT725029	hsa-miR-190a-3p	HITS-CLIP	19536157

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	24089531, 24510904, 29513927
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	20406883, 24089531, 24838397
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008168	Function	Methyltransferase activity	NAS	20406883
GO:0016740	Function	Transferase activity	IEA
GO:0019899	Function	Enzyme binding	IPI	20406883
GO:0019918	Process	Peptidyl-arginine methylation, to symmetrical-dimethyl arginine	IMP	24089531
GO:0032259	Process	Methylation	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	20406883, 24089531, 24838397
GO:0035243	Function	Protein-arginine omega-N symmetric methyltransferase activity	IBA
GO:0035243	Function	Protein-arginine omega-N symmetric methyltransferase activity	IEA
GO:0035243	Function	Protein-arginine omega-N symmetric methyltransferase activity	IMP	24089531

MIM	HGNC	e!Ensembl
615898	28816	ENSG00000003509

Q7L592

Protein name

Protein arginine methyltransferase NDUFAF7, mitochondrial (EC 2.1.1.320) (NADH dehydrogenase [ubiquinone] complex I, assembly factor 7) (Protein midA homolog)

Protein function

Arginine methyltransferase involved in the assembly or stability of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) (PubMed:20406883, PubMed:24089531, PubMed:24838397). Acts by mediating symmetric dimethylation of 'Arg-118' of N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02636	Methyltransf_28	100 → 354	Putative S-adenosyl-L-methionine-dependent methyltransferase	Family

Sequence

MSVLLRSGLGPLCAVARAAIPFIWRGKYFSSGNEPAENPVTPMLRHLMYKIKSTGPITVA
EYMKEVLTNPAKGYYVYRDMLGEKGDFITSPEISQIFGELLGIWFISEWMATGKSTAFQL
VELGPGRGTLVGDILRVFTQLGSVLKNCDISVHLVEVSQKLSEIQALTLTKEKVPLERNA
GSPVYMKGVTKSGIPISWYRDLHDVPKGYSFYLAHEFFDVLPVHKFQKTPQGWREVFVDI
DPQVSDKLRFVLAPSATPAEAFIQHDETRDHVEVCPDAGVIIEELSQRIALTGGAALVAD
YGHDGTKTDTFRGFCDHKLHDVLIAPGTADLTADVDFSYLRRMAQGKVASLGPIKQHTFL
KNMGIDVRLKVLLDKSNEPSVRQQLLQGYDMLMNPKKMGERFNFFALLPHQRLQGGRYQR
NARQSKPFASVVAGFSELAWQ

Sequence length

441

Interactions

View interactions

	KEGG		Reactome
	Thermogenesis		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 Unknown Diseases (17)

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.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial complex I deficiency	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (1)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	34099642	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

NDUFAF7 (NADH:ubiquinone oxidoreductase complex assembly factor 7)