TRABD2B

Chr 1

TraB domain containing 2B

NCBI Gene: 388630ENSG00000269113UniProt: A6NFA1OMIM: 614913

The protein is a metalloprotease that negatively regulates Wnt signaling by cleaving and inactivating specific Wnt proteins (WNT3A, WNT5A), and is required for proper head formation during development. TRABD2B is highly constrained against loss-of-function variants (pLI 0.84, LOEUF 0.42), but no established Mendelian diseases have been reported for this gene to date.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.42
Clinical Summary— TRABD2B
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.84) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
7 unique Pathogenic / Likely Pathogenic· 63 VUS of 80 total submissions
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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

80 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic3
VUS63
Likely Benign3
4
Pathogenic
3
Likely Pathogenic
63
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
61
2
0
63
Likely Benign
0
2
0
1
3
Benign
0
0
0
0
0
Total0639173

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

View in ClinVar →

Protein Context — Lollipop Plot

TRABD2B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
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