TSEN54 Chromosome 17
TRNA splicing endonuclease subunit 54
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What This Gene Does
This gene encodes a subunit of the tRNA splicing endonuclease complex, which catalyzes the removal of introns from precursor tRNAs. The complex is also implicated in pre-mRNA 3-prime end processing. Mutations in this gene result in pontocerebellar hypoplasia type 2.[provided by RefSeq, Oct 2009]
Gene Info
Gene Group
tRNA-splicing endonuclease subunits
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000182173
Associated Conditions (30)
Inborn genetic diseases
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 2A
Pontocerebellar hypoplasia type 5
Colorectal cancer
Thyroid cancer
nonmedullary
1
Gastric cancer
Malignant tumor of urinary bladder
Malignant tumor of esophagus
Familial cancer of breast
Olivopontocerebellar hypoplasia
TSEN54-related disorder
Abnormality of the nervous system
Microcephaly
Global developmental delay
Congenital cerebellar hypoplasia
Hypertonia
+10 more conditions
Key Variants
RS113016401
Conflicting classifications of pathogenicity
Health Risk
RS117456384
Conflicting classifications of pathogenicity
Health Risk
RS1226320805
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1425806314
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150805182
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151332020
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS1555644694
Conflicting classifications of pathogenicity
Health Risk
RS200015685
Conflicting classifications of pathogenicity
Inborn genetic diseases, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A
Health Risk
RS200228117
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5
Health Risk
RS200318170
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
Health Risk
RS200434678
Conflicting classifications of pathogenicity
Olivopontocerebellar hypoplasia, Pontoneocerebellar hypoplasia, Inborn genetic diseases
Health Risk
RS201089582
Conflicting classifications of pathogenicity
Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A
Health Risk
All Variants (108)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555644470 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS199962683 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A |
| RS2053374114 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS2053430432 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 5, Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A |
| RS2147013169 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 4, Pontocerebellar hypoplasia type 2A, Pontocerebellar hypoplasia type 5 |
| RS587784476 | Health Risk | Pathogenic/Likely pathogenic | Olivopontocerebellar hypoplasia, Pontoneocerebellar hypoplasia, Olivopontocerebellar hypoplasia |
| RS766586470 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2A |
| RS774157225 | Health Risk | Pathogenic/Likely pathogenic | Pontocerebellar hypoplasia type 2A, Pontoneocerebellar hypoplasia, Pontocerebellar hypoplasia type 2A |