TAPBPL

Chr 12

TAP binding protein like

Also known as: TAPBP-R, TAPBPR

NCBI Gene: 55080ENSG00000139192UniProt: Q9BX59

Tapasin, or TAPBP (MIM 601962), is a member of the variable-constant Ig superfamily that links major histocompatibility complex (MHC) class I molecules to the transporter associated with antigen processing (TAP; see MIM 170260) in the endoplasmic reticulum (ER). The TAPBP gene is located near the MHC complex on chromosome 6p21.3. TAPBPL is a member of the Ig superfamily that is localized on chromosome 12p13.3, a region somewhat paralogous to the MHC.[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.22
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?
1.22LOEUF
pLI 0.000
Z-score 0.78
OE 0.82 (0.56–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.78Z-score
OE missense 0.87 (0.78–0.97)
231 obs / 266.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.56–1.22)
0≤0.351.4
Missense OE?0.87 (0.78–0.97)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 17 / 20.8Missense obs/exp: 231 / 266.8Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TAPBPL · 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