NDUFS2 Chromosome 1

NADH:ubiquinone oxidoreductase core subunit S2
37 variants 37 Health Risk

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What This Gene Does
The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
NADH:ubiquinone oxidoreductase core subunits
Locus Type
gene with protein product
Location
1q23.3
Ensembl
ENSG00000158864
Associated Conditions (21)
Mitochondrial complex I deficiency
nuclear type 6
nuclear type 1
NDUFS2-related disorder
Inborn genetic diseases
Uterine corpus endometrial carcinoma
Familial cancer of breast
Gastric cancer
Ovarian serous cystadenocarcinoma
Hepatocellular carcinoma
Optic atrophy
Colorectal cancer
Thyroid cancer
nonmedullary
1
Uveal melanoma
Melanoma
Sarcoma
Leber-like hereditary optic neuropathy
autosomal recessive 2
+1 more conditions
Key Variants
RS121434427
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 6, Mitochondrial complex I deficiency
Health Risk
RS138185030
Conflicting classifications of pathogenicity
Health Risk
RS142594036
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NDUFS2-related disorder
Health Risk
RS144411579
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 6, nuclear type 1
Health Risk
RS144937332
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS145578059
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS147235167
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Uterine corpus endometrial carcinoma
Health Risk
RS149789018
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Gastric cancer
Health Risk
RS149953813
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NDUFS2-related disorder
Health Risk
RS150667550
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, Inborn genetic diseases, Mitochondrial complex I deficiency
Health Risk
RS186476170
Conflicting classifications of pathogenicity
Inborn genetic diseases, NDUFS2-related disorder, Inborn genetic diseases
Health Risk
RS190184430
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, NDUFS2-related disorder
Health Risk
All Variants (37)
RSID Category Clinical Significance Conditions
RS121434427 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 6, Mitochondrial complex I deficiency
RS138185030 Health Risk Conflicting classifications of pathogenicity —
RS142594036 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, NDUFS2-related disorder
RS144411579 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 6, nuclear type 1
RS144937332 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS145578059 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS147235167 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Uterine corpus endometrial carcinoma
RS149789018 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Gastric cancer
RS149953813 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, NDUFS2-related disorder
RS150667550 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, Inborn genetic diseases, Mitochondrial complex I deficiency
RS186476170 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NDUFS2-related disorder, Inborn genetic diseases
RS190184430 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, NDUFS2-related disorder
RS191955041 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS201275792 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS201554004 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS201897431 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex I deficiency, nuclear type 6
RS202121443 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS35086265 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 6, nuclear type 1
RS36233987 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS375650413 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS41428447 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, NDUFS2-related disorder
RS74124661 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS751472475 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS754241926 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, nuclear type 6
RS76309459 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS772424969 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774162709 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, nuclear type 6
RS775653766 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
RS121434429 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 6, Mitochondrial complex I deficiency
RS1553249704 Health Risk Likely pathogenic Leber optic atrophy, Leber optic atrophy
RS2102057068 Health Risk Likely pathogenic —
RS2525709329 Health Risk Likely pathogenic —
RS372463492 Health Risk Likely pathogenic —
RS121434428 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 6, Mitochondrial complex I deficiency
RS1665637127 Health Risk Pathogenic —
RS2102030658 Health Risk Pathogenic —
RS373835897 Health Risk Pathogenic Leber-like hereditary optic neuropathy, autosomal recessive 2, Leber-like hereditary optic neuropathy
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