TRABD2B

Chr 1

TraB domain containing 2B

Also known as: TIKI2

NCBI Gene: 388630ENSG00000269113UniProt: A6NFA1

Enables Wnt-protein binding activity and metalloendopeptidase activity. Involved in several processes, including negative regulation of Wnt signaling pathway; positive regulation of protein oxidation; and positive regulation of protein-containing complex assembly. Located in nucleoplasm; organelle membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2025]

0
Active trials
7
Pathogenic / LP
71
ClinVar variants
2
Pubs (1 yr)
3.0
Missense Z
0.42
LOEUF
Clinical Summary— TRABD2B
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.84) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
7 Pathogenic / Likely Pathogenic· 61 VUS of 71 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.42LOEUF
pLI 0.843
Z-score 3.09
OE 0.13 (0.05–0.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.99Z-score
OE missense 0.48 (0.41–0.55)
123 obs / 258.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.13 (0.05–0.42)
0≤0.351.4
Missense OE0.48 (0.41–0.55)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 2 / 14.9Missense obs/exp: 123 / 258.1Syn Z: 1.52

ClinVar Variant Classifications

71 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic3
VUS61
Likely Benign3
4
Pathogenic
3
Likely Pathogenic
61
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
3
0
3
VUS
0
59
2
0
61
Likely Benign
0
2
0
1
3
Benign
0
0
0
0
0
Total0619171

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

View in ClinVar →

TRABD2B · 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
Landmark / reviewRecent case evidence
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 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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