TSEN2 Chromosome 3
TRNA splicing endonuclease subunit 2
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What This Gene Does
This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
Gene Info
Gene Group
tRNA-splicing endonuclease subunits
Locus Type
gene with protein product
Location
3p25.2
Ensembl
ENSG00000154743
Associated Conditions (8)
Pontocerebellar hypoplasia type 2B
Pontoneocerebellar hypoplasia
TSEN2-related disorder
Thyroid cancer
nonmedullary
1
Inborn genetic diseases
Hemolytic-uremic syndrome
Key Variants
RS111535594
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
Health Risk
RS113260160
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS113981920
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS113994149
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B
Health Risk
RS141580750
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, TSEN2-related disorder, Pontoneocerebellar hypoplasia
Health Risk
RS145142315
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia, Thyroid cancer
Health Risk
RS146117200
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, TSEN2-related disorder, Pontoneocerebellar hypoplasia
Health Risk
RS148549222
Conflicting classifications of pathogenicity
Health Risk
RS151133206
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200009549
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS200663602
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS371073764
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111535594 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS113260160 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS113981920 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS113994149 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B |
| RS141580750 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, TSEN2-related disorder, Pontoneocerebellar hypoplasia |
| RS145142315 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia, Thyroid cancer |
| RS146117200 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, TSEN2-related disorder, Pontoneocerebellar hypoplasia |
| RS148549222 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151133206 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200009549 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS200663602 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS371073764 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS376815626 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia |
| RS748777382 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS75288720 | Health Risk | Conflicting classifications of pathogenicity | Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B |
| RS754200115 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS761076607 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS777378178 | Health Risk | Conflicting classifications of pathogenicity | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS1477347690 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS149417061 | Health Risk | Likely pathogenic | Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia |
| RS1553587071 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS201467485 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS755246924 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B |
| RS759981027 | Health Risk | Likely pathogenic | Hemolytic-uremic syndrome, Hemolytic-uremic syndrome |
| RS764053163 | Health Risk | Likely pathogenic | — |
| RS797046051 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS797046052 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS886037738 | Health Risk | Likely pathogenic | Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B |
| RS1289878587 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2054534882 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS730880294 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS886037739 | Health Risk | Pathogenic | Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B |
| RS760722955 | Health Risk | Pathogenic/Likely pathogenic | Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia |
| RS774323175 | Health Risk | Pathogenic/Likely pathogenic | Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2B, Pontoneocerebellar hypoplasia |