ELAC2 Chromosome 17
ElaC ribonuclease Z 2
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What This Gene Does
The protein encoded by this gene has a C-terminal domain with tRNA 3′ processing endoribonuclease activity, which catalyzes the removal of the 3' trailer from precursor tRNAs. The protein also interacts with activated Smad family member 2 (Smad2) and its nuclear partner forkhead box H1 (also known as FAST-1), and reduced expression can suppress transforming growth factor-beta induced growth arrest. Mutations in this gene result in an increased risk of prostate cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Gene Info
Gene Group
"MBL fold containing DNA/RNA interacting subfamily|Endoribonucleases"
Locus Type
gene with protein product
Location
17p12
Ensembl
ENSG00000006744
Associated Conditions (20)
Prostate cancer
hereditary
2
Combined oxidative phosphorylation defect type 17
Inborn genetic diseases
ELAC2-related disorder
Malignant tumor of urinary bladder
Cervical cancer
Sarcoma
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Acute myeloid leukemia
Lung cancer
Familial cancer of breast
Ovarian cancer
Intellectual disability
Melanoma
susceptibility to
Key Variants
RS119484086
Conflicting classifications of pathogenicity
Prostate cancer, hereditary, 2
Health Risk
RS1276616440
Conflicting classifications of pathogenicity
Inborn genetic diseases, Combined oxidative phosphorylation defect type 17, Inborn genetic diseases
Health Risk
RS1359575116
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
Health Risk
RS1367528939
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
Health Risk
RS140665334
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, ELAC2-related disorder, Prostate cancer
Health Risk
RS149210630
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
Health Risk
RS149561185
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, Prostate cancer, hereditary
Health Risk
RS149733287
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, Malignant tumor of urinary bladder, Cervical cancer
Health Risk
RS1555571246
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, ELAC2-related disorder, Inborn genetic diseases
Health Risk
RS200827637
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
Health Risk
RS201530031
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
Health Risk
RS201830045
Conflicting classifications of pathogenicity
Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
Health Risk
All Variants (81)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1478938317 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS1567773277 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2040857188 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2040936942 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2040937055 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2041065623 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2041085400 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2143562536 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508312089 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508390123 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508391449 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS2508398433 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS387906327 | Health Risk | Pathogenic | Prostate cancer, hereditary, 2 |
| RS397515463 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS397515464 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS397515465 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Prostate cancer, hereditary |
| RS397515466 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS748788377 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS761359247 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS761385155 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Inborn genetic diseases, Combined oxidative phosphorylation defect type 17 |
| RS764570495 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS766731755 | Health Risk | Pathogenic | Prostate cancer, hereditary, 2 |
| RS781680309 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS946948334 | Health Risk | Pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS1060502161 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 17, Inborn genetic diseases, Combined oxidative phosphorylation defect type 17 |
| RS1230021596 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS1308121771 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS550032922 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS748684065 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |
| RS763770476 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 17, Inborn genetic diseases, Combined oxidative phosphorylation defect type 17 |
| RS767879725 | Health Risk | Pathogenic/Likely pathogenic | Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17 |