TIMELESS

Chr 12AD

timeless circadian regulator

Also known as: FASPS4, TIM, TIM1, hTIM

The protein encoded by this gene is highly conserved and is involved in cell survival after damage or stress, increase in DNA polymerase epsilon activity, maintenance of telomere length, and epithelial cell morphogenesis. The encoded protein also plays a role in the circadian rhythm autoregulatory loop, interacting with the PERIOD genes (PER1, PER2, and PER3) and others to downregulate activation of PER1 by CLOCK/ARNTL. Changes in this gene or its expression may promote prostate cancer, lung cancer, breast cancer, and mental disorders. [provided by RefSeq, Feb 2014]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Advance sleep phase syndrome, familial, 4MIM #620015
AD
UniProtAdvanced sleep phase syndrome, familial, 4
0
Active trials
131
Pubs (1 yr)
P/LP submissions
P/LP missense
0.98
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.000
Z-score 1.72
OE 0.79 (0.640.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.07Z-score
OE missense 0.99 (0.931.06)
684 obs / 688.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.79 (0.640.98)
00.351.4
Missense OE?0.99 (0.931.06)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 62 / 78.4Missense obs/exp: 684 / 688.8Syn Z: -0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TIMELESS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →