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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TRABD2B
TraB domain containing 2B
Chromosome 1 · 1p33
NCBI Gene: 388630Ensembl: ENSG00000269113.5HGNC: HGNC:44200UniProt: A6NFA1
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
plasma membrane raftmetalloendopeptidase activityprotein bindingWnt-protein bindingandrogenetic alopeciainjuryprimary aldosteronismovarian neoplasm
✦AI Summary

TRABD2B (TraB domain containing 2B) is a metalloprotease that functions as a negative regulator of Wnt signaling by cleaving the N-terminal region of specific Wnt proteins, including WNT3A and WNT5 1. Following cleavage, these Wnt proteins become oxidized and form inactive disulfide-bond oligomers, thereby suppressing Wnt pathway activation. The protein contains a conserved TIKI/TraB fold and exhibits Mn(2+)/Co(2+)-dependent catalytic activity 1. TRABD2B is required for proper head formation during embryonic development 2. Altered TRABD2B expression is implicated in multiple disease contexts. Hypomethylation of TRABD2B was identified in developmental language disorder (DLD), suggesting potential involvement in myelination disruption 3. Genetic variants in TRABD2B (rs1561573) show association with serum selenium deficiency and are functionally linked to thyroid hormone metabolism and Wnt pathway regulation 4. In complex disease associations, TRABD2B downregulation occurs in placental tissue from women with obstructive sleep apnea 5, and TRABD2B variants contribute to computer vision syndrome susceptibility through Wnt signaling modulation 6. Additionally, TRABD2B expression correlates with colorectal cancer prognosis in patients with slow transit constipation 7. These findings underscore TRABD2B's broader role in developmental, metabolic, and disease processes beyond canonical Wnt inhibition.

Sources cited
1
TRABD2B (Tiki family member) cleaves Wnt N-terminal regions to inactivate specific Wnt ligands; exhibits Mn(2+)/Co(2+)-dependent metalloprotease activity with TIKI/TraB fold structure
PMID: 26631728
2
Tiki proteins including those with TraB domain are Wnt antagonists required for head formation in vertebrate embryonic development
PMID: 25354456
3
TRABD2B shows hypomethylation in developmental language disorder patients, implicating Wnt signaling in DLD pathogenesis and myelination
PMID: 38264859
4
TRABD2B SNP rs1561573 associates with serum selenium deficiency; TRABD2B functionally linked to thyroid hormone metabolism and Wnt pathway regulation
PMID: 38892560
5
TRABD2B downregulation occurs in placental tissue from women with obstructive sleep apnea, affecting Wnt signaling pathway
PMID: 35278842
6
TRABD2B variants show association with computer vision syndrome symptoms through Wnt signaling pathway mechanisms
PMID: 33941792
7
TRABD2B expression levels contribute to colorectal cancer prognostic signature in patients with slow transit constipation
PMID: 40454893
Disease Associationsⓘ20
androgenetic alopeciaOpen Targets
0.31Weak
injuryOpen Targets
0.30Weak
primary aldosteronismOpen Targets
0.29Weak
ovarian neoplasmOpen Targets
0.29Weak
Meniere diseaseOpen Targets
0.28Weak
ShockOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.27Weak
sialolithiasisOpen Targets
0.26Weak
renal cell carcinomaOpen Targets
0.07Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
pubertyOpen Targets
0.07Suggestive
hypertensionOpen Targets
0.05Suggestive
Abnormality of refractionOpen Targets
0.05Suggestive
joint diseaseOpen Targets
0.03Suggestive
albuminuriaOpen Targets
0.03Suggestive
Disorder of lipid metabolismOpen Targets
0.03Suggestive
neuroendocrine neoplasmOpen Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
Abnormality of the skeletal systemOpen Targets
0.02Suggestive
malignant renal pelvis neoplasmOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TRABD2AShared pathway75%WIF1Shared pathway33%CXXC4Shared pathway33%APCDD1LShared pathway33%PGA4Shared pathway33%PGA3Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Lung
33%
Heart
33%
Ovary
12%
Brain
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TRABD2BTRABD2AWIF1CXXC4APCDD1LPGA4PGA3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A6NFA1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.11Tolerant
Observed/Expected LoF0.45 [0.29–0.71]
RankingsWhere TRABD2B stands among ~20K protein-coding genes
  • #15,723of 20,598
    Most Researched15
  • #5,453of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedTRABD2B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Hypomethylation of Wnt signaling regulator genes in developmental language disorder.
PMID: 38264859
Epigenomics · 2024
1.00
2
Genome-Wide Admixture and Association Study of Serum Selenium Deficiency to Identify Genetic Variants Indirectly Linked to Selenium Regulation in Brazilian Adults.
PMID: 38892560
Nutrients · 2024
0.90
3
Gene expression profiling of placentae from women with obesity and obstructive sleep apnoea.
PMID: 35278842
Placenta · 2022
0.80
4
Integrated Analysis of Slow Transit Constipation and Colorectal Cancer Reveals the Co-Pathogenic Targets and Their Potential Clinical Value.
PMID: 40454893
Cancer Invest · 2025
0.70
5
A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study.
PMID: 33941792
Sci Rep · 2021
0.60