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TMEM278

Chr 1

transmembrane protein 278

Also known as: TMEM88B

NCBI Gene: 643965 UniProt: A6NKF7

The protein is predicted to negatively regulate canonical Wnt signaling and localize to the plasma membrane. No human diseases have been definitively associated with TMEM278 mutations based on the available information. The inheritance pattern and clinical phenotypes remain to be established.

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

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Mechanism

Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/TMEM278?content-type=application/json

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TMEM278?

gnomAD v4 · ~674k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

317 rare PASS variants

Rare truncating (LoF)

1 in 1,400

64 rare PASS variants

Rare synonymous (reference)

1 in 170

165 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMEM278. 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)	~527k	1 in 180	1 in 1,400
South Asian	~37k	1 in 120	1 in 1,400
Remaining (unassigned)	~28k	1 in 120	1 in 1,200
European (Finnish)	~23k	1 in 1,400	≈ 1 in 23,000
African / African American	~21k	1 in 140	1 in 1,800
East Asian	~16k	1 in 140	1 in 2,600
Admixed American	~15k	1 in 130	1 in 1,200
Ashkenazi Jewish	~12k	1 in 810	≈ 1 in 6,700
Middle Eastern	~2,169	1 in 160	≈ 1 in 1,800

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.