SIRT5

Chr 6

sirtuin 5

Also known as: SIR2L5

This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010]

ResearchGenerating clinical summary…
0
Active trials
180
Pubs (1 yr)
P/LP submissions
P/LP missense
1.24
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.77
OE 0.81 (0.551.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.14Z-score
OE missense 0.97 (0.861.10)
188 obs / 193.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.81 (0.551.24)
00.351.4
Missense OE?0.97 (0.861.10)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 16 / 19.7Missense obs/exp: 188 / 193.5Syn Z: -0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SIRT5 · 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.

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