TBKBP1

Chr 17

TBK1 binding protein 1

Also known as: ProSAPiP2, SINTBAD

NCBI Gene: 9755ENSG00000198933UniProt: A7MCY6

TBKBP1 encodes an adapter protein that constitutively binds TBK1 and IKBKE in the TNF/NFKB pathway and functions in antiviral innate immunity. The gene has a low probability of loss-of-function intolerance (pLI = 0.27) and moderate constraint against loss-of-function variants (LOEUF = 0.47), but no specific diseases associated with TBKBP1 mutations have been reported in the provided information.

Summary from RefSeq, UniProt
0
Active trials
2
Pubs (1 yr)
8
P/LP submissions
0%
P/LP missense
0.47
LOEUF
—
Mechanism
Clinical Summary— TBKBP1
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.24) despite low pLI — interpret in context.
📋
ClinVar Variants
8 unique Pathogenic / Likely Pathogenic· 108 VUS of 139 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.47LOEUF
pLI 0.270
Z-score 3.56
OE 0.24 (0.13–0.47)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.16Z-score
OE missense 0.81 (0.73–0.90)
243 obs / 299.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.24 (0.13–0.47)
0≤0.351.4
Missense OE0.81 (0.73–0.90)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 6 / 25.4Missense obs/exp: 243 / 299.3Syn Z: 0.91

ClinVar Variant Classifications

139 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic7
Likely Pathogenic1
VUS108
Likely Benign6
Benign2
7
Pathogenic
1
Likely Pathogenic
108
VUS
6
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
7
0
7
Likely Pathogenic
0
0
1
0
1
VUS
0
106
2
0
108
Likely Benign
0
4
0
2
6
Benign
0
0
1
1
2
Total0110113124

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

View in ClinVar →

Protein Context — Lollipop Plot

TBKBP1 · 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 3 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