TESPA1

Chr 12

thymocyte expressed, positive selection associated 1

Also known as: HSPC257, ITPRID3, KIAA0748

NCBI Gene: 9840ENSG00000135426UniProt: A2RU30

Predicted to enable phospholipase binding activity and signaling receptor binding activity. Predicted to be involved in COP9 signalosome assembly; positive regulation of T cell differentiation in thymus; and positive regulation of T cell receptor signaling pathway. Predicted to act upstream of or within TCR signalosome assembly. Located in cytosol. Part of COP9 signalosome. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.79
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.79LOEUF
pLI 0.000
Z-score 2.37
OE 0.50 (0.32–0.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.73Z-score
OE missense 0.88 (0.79–0.97)
245 obs / 279.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.32–0.79)
0≤0.351.4
Missense OE?0.88 (0.79–0.97)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 13 / 26.1Missense obs/exp: 245 / 279.3Syn Z: 1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TESPA1 · 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