TNKS2

Chr 10

tankyrase 2

Also known as: ARTD6, PARP-5b, PARP-5c, PARP5B, PARP5C, TANK2, TNKL, pART6

NCBI Gene: 80351ENSG00000107854UniProt: Q9H2K2OMIM: 607128

Enables NAD+ poly-ADP-ribosyltransferase activity; NAD+-protein mono-ADP-ribosyltransferase activity; and enzyme binding activity. Involved in several processes, including positive regulation of canonical Wnt signaling pathway; post-translational protein modification; and regulation of telomere maintenance. Located in nuclear envelope; pericentriolar material; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.48
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Missense constrained — critical functional residues
LoF Constraint?
0.48LOEUF
pLI 0.000
Z-score 4.75
OE 0.33 (0.23–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
3.12Z-score
OE missense 0.63 (0.58–0.69)
368 obs / 579.7 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.33 (0.23–0.48)
0≤0.351.4
Missense OE?0.63 (0.58–0.69)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 19 / 58.0Missense obs/exp: 368 / 579.7Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TNKS2 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients