FASTKD2 Chromosome 2
FAST kinase domains 2
Upload your DNA to see your personal genotypes for variants in FASTKD2.
What This Gene Does
This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"FASTK mitochondrial RNA binding family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
2q33.3
Ensembl
ENSG00000118246
Associated Conditions (23)
Mitochondrial complex IV deficiency
nuclear type 1
Combined oxidative phosphorylation deficiency 44
Inborn genetic diseases
FASTKD2-related disorder
Uterine corpus endometrial carcinoma
Colorectal cancer
Gastric cancer
Thyroid cancer
nonmedullary
1
Colon adenocarcinoma
Hepatocellular carcinoma
Cervical cancer
Sarcoma
Uterine carcinosarcoma
Thymoma
Clear cell carcinoma of kidney
Lung cancer
Familial cancer of breast
+3 more conditions
Key Variants
RS13421046
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS138500508
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation deficiency 44, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 44
Health Risk
RS140778319
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44
Health Risk
RS141447598
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, FASTKD2-related disorder
Health Risk
RS142211558
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Inborn genetic diseases
Health Risk
RS144499152
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, FASTKD2-related disorder
Health Risk
RS145043229
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS145438423
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS146554705
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS147381048
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency
Health Risk
RS147727753
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, FASTKD2-related disorder
Health Risk
RS150016888
Conflicting classifications of pathogenicity
Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44
Health Risk
All Variants (48)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS13421046 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS138500508 | Health Risk | Conflicting classifications of pathogenicity | Combined oxidative phosphorylation deficiency 44, Inborn genetic diseases, Combined oxidative phosphorylation deficiency 44 |
| RS140778319 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44 |
| RS141447598 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, FASTKD2-related disorder |
| RS142211558 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Inborn genetic diseases |
| RS144499152 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, FASTKD2-related disorder |
| RS145043229 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS145438423 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS146554705 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS147381048 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS147727753 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, FASTKD2-related disorder |
| RS150016888 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44 |
| RS150994958 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44 |
| RS182441753 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44 |
| RS200425724 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS369427864 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS372022584 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Inborn genetic diseases |
| RS41272661 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Adrenocortical carcinoma, hereditary |
| RS536180346 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44 |
| RS543042440 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS569854101 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS758086677 | Health Risk | Conflicting classifications of pathogenicity | FASTKD2-related disorder, Combined oxidative phosphorylation deficiency 44, FASTKD2-related disorder |
| RS768043175 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS771134176 | Health Risk | Conflicting classifications of pathogenicity | Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44 |
| RS780603742 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781630523 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1064794140 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS1304003703 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS1574675756 | Health Risk | Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Mitochondrial complex IV deficiency |
| RS1690150292 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS774891673 | Health Risk | Likely pathogenic | Combined oxidative phosphorylation deficiency 44, FASTKD2-related disorder, Combined oxidative phosphorylation deficiency 44 |
| RS863223962 | Health Risk | Likely pathogenic | — |
| RS118203917 | Health Risk | Pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44 |
| RS1574663066 | Health Risk | Pathogenic | Leigh syndrome, Combined oxidative phosphorylation deficiency 44, Leigh syndrome |
| RS1574675683 | Health Risk | Pathogenic | Leigh syndrome, Combined oxidative phosphorylation deficiency 44, Leigh syndrome |
| RS1689552727 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS2468819358 | Health Risk | Pathogenic | — |
| RS2468837499 | Health Risk | Pathogenic | — |
| RS2468839575 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS2469461551 | Health Risk | Pathogenic | — |
| RS758094541 | Health Risk | Pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS763480439 | Health Risk | Pathogenic | — |
| RS778120270 | Health Risk | Pathogenic | Leigh syndrome, Combined oxidative phosphorylation deficiency 44, Leigh syndrome |
| RS1559359546 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS751316870 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS755068980 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex IV deficiency, nuclear type 1, Combined oxidative phosphorylation deficiency 44 |
| RS767682048 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |
| RS994917847 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation deficiency 44, Combined oxidative phosphorylation deficiency 44 |