TPBGL

Chr 11

trophoblast glycoprotein like

NCBI Gene: 100507050 ENSG00000261594 UniProt: P0DKB5

The protein encoded by this gene is predicted to negatively regulate the canonical Wnt signaling pathway and localize to the plasma membrane. Currently, no definitive human diseases have been associated with mutations in TPBGL. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.

ResearchSummary from RefSeq

Predicted to be involved in negative regulation of canonical Wnt signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TPBGL?

gnomAD v4 · ~676k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 84

747 rare PASS variants

Rare truncating (LoF)

1 in 1,400

108 rare PASS variants

Rare synonymous (reference)

1 in 120

404 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TPBGL. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~531k	1 in 86	1 in 1,500
South Asian	~38k	1 in 67	1 in 1,000
Remaining (unassigned)	~28k	1 in 65	1 in 950
African / African American	~21k	1 in 93	1 in 3,100
European (Finnish)	~17k	1 in 180	1 in 1,700
Admixed American	~16k	1 in 65	1 in 1,400
East Asian	~16k	1 in 110	1 in 1,400
Ashkenazi Jewish	~12k	1 in 190	1 in 1,500
Middle Eastern	~2,755	1 in 88	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.