TUG1
Chr 22taurine up-regulated 1
Also known as: LINC00080, NCRNA00080, TI-227H
Predicted to enable cis-regulatory region sequence-specific DNA binding activity. Predicted to act upstream of or within several processes, including mitochondrion organization; photoreceptor cell development; and spermatogenesis. Predicted to be located in mitochondrial membrane and nuclear membrane. Predicted to be active in nucleus. Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Jul 2025]
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
21 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | — | — | — | — | 17 |
Likely Pathogenic | — | — | — | — | 1 |
VUS | — | — | — | — | 1 |
Likely Benign | — | — | — | — | 0 |
Benign | — | — | — | — | 0 |
| Total | — | 19 | |||
Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TUG1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools