PTCRA

Chr 6

pre T cell antigen receptor alpha

Also known as: IMD126, PT-ALPHA, PTA

NCBI Gene: 171558ENSG00000171611UniProt: Q6ISU1

The protein encoded by this gene is a single-pass type I membrane protein that is found in immmature but not mature T-cells. Along with TCRB and CD3 complex, the encoded protein forms the pre-T-cell receptor complex, which regulates early T-cell development. Four transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtImmunodeficiency 126

Clinical highlights

Gene-disease validity (ClinGen)
immunodeficiency 126, susceptibility to · ARStrongappropriate for clinical testing
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
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
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?
1.07LOEUF
pLI 0.144
Z-score 1.47
OE 0.34 (0.14–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.10Z-score
OE missense 0.98 (0.86–1.12)
157 obs / 160.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.34 (0.14–1.07)
0≤0.351.4
Missense OE?0.98 (0.86–1.12)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 2 / 5.8Missense obs/exp: 157 / 160.4Syn Z: 0.90

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PTCRA · 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