TAPBPL

Chr 12

TAP binding protein like

Also known as: TAPBP-R, TAPBPR

NCBI Gene: 55080ENSG00000139192UniProt: Q9BX59

TAPBPL encodes a protein that binds to MHC class I molecules coupled with beta2-microglobulin and functions as a component of the antigen processing and presentation pathway. The gene is not highly constrained against loss-of-function variation. No known disease associations have been established for mutations in this gene based on the provided information.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
3
Pubs (1 yr)
72
P/LP submissions
0%
P/LP missense
1.22
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— TAPBPL
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
59 unique Pathogenic / Likely Pathogenic· 116 VUS of 275 total submissions
Explore recent and relevant literature in Research Assistant →

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 OE0.82 (0.56–1.22)
0≤0.351.4
Missense OE0.87 (0.78–0.97)
0≤0.61.4
Synonymous OE0.99
0≤1.21.6
LoF obs/exp: 17 / 20.8Missense obs/exp: 231 / 266.8Syn Z: 0.10
DN
0.6357th %ile
GOF
0.7029th %ile
LOF
0.3745th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

275 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic49
Likely Pathogenic10
VUS116
Likely Benign54
Benign16
Conflicting4
49
Pathogenic
10
Likely Pathogenic
116
VUS
54
Likely Benign
16
Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
5
0
44
0
49
Likely Pathogenic
4
0
6
0
10
VUS
3
95
17
1
116
Likely Benign
1
7
29
17
54
Benign
0
0
15
1
16
Conflicting
—4
Total1310211119249

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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