TPD52L1

Chr 6

TPD52 like 1

Also known as: D53, TPD53

NCBI Gene: 7164ENSG00000111907UniProt: Q16890

This gene encodes a member of a family of proteins that contain coiled-coil domains and may form hetero- or homomers. The encoded protein is involved in cell proliferation and calcium signaling. It also interacts with the mitogen-activated protein kinase kinase kinase 5 (MAP3K5/ASK1) and positively regulates MAP3K5-induced apoptosis. Multiple alternatively spliced transcript variants have been observed. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.24
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?
1.24LOEUF
pLI 0.000
Z-score 0.94
OE 0.71 (0.43–1.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.11Z-score
OE missense 0.71 (0.60–0.85)
85 obs / 119.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.71 (0.43–1.24)
0≤0.351.4
Missense OE?0.71 (0.60–0.85)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 9 / 12.6Missense obs/exp: 85 / 119.1Syn Z: 0.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TPD52L1 · 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