TSSK2

Chr 22

testis specific serine kinase 2

Also known as: DGS-G, SPOGA2, STK22B, TSK2

TSSK2 belongs to a family of serine/threonine kinases highly expressed in testis (Hao et al., 2004 [PubMed 15044604]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.15
LOEUF
Multiple*
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?
1.15LOEUF
pLI 0.004
Z-score 1.27
OE 0.55 (0.281.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.81Z-score
OE missense 0.85 (0.760.96)
205 obs / 240.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.55 (0.281.15)
00.351.4
Missense OE?0.85 (0.760.96)
00.61.4
Synonymous OE?1.04
01.21.6
LoF obs/exp: 5 / 9.1Missense obs/exp: 205 / 240.2Syn Z: -0.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TSSK2 · 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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