TMEM134

Chr 11

transmembrane protein 134

NCBI Gene: 80194 ENSG00000172663 UniProt: Q9H6X4

TMEM134 encodes a transmembrane protein located in the cytosol and perinuclear region of the cytoplasm, though its specific cellular function remains unclear. The gene shows very low constraint against loss-of-function variants (pLI near zero, LOEUF 1.88), suggesting it tolerates protein-truncating mutations well. No established human disease associations have been reported for TMEM134 mutations.

ResearchSummary from RefSeq

Located in cytosol and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.88

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.88LOEUF

pLI 0.000

Z-score -0.95

OE 1.33 (0.85–1.88)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.40Z-score

OE missense 1.11 (0.95–1.31)

106 obs / 95.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.33 (0.85–1.88)

0≤0.351.4

Missense OE?1.11 (0.95–1.31)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 13 / 9.8Missense obs/exp: 106 / 95.1Syn Z: -0.65

Background carrier burden — how many people carry a rare variant somewhere in TMEM134?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

369 rare PASS variants

Rare truncating (LoF)

1 in 970

81 rare PASS variants

Rare synonymous (reference)

1 in 550

149 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMEM134. 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)	~556k	1 in 270	1 in 1,100
South Asian	~43k	1 in 160	1 in 1,000
Remaining (unassigned)	~30k	1 in 120	1 in 840
European (Finnish)	~27k	1 in 600	1 in 450
Admixed American	~22k	1 in 110	1 in 670
African / African American	~21k	1 in 170	1 in 420
East Asian	~20k	1 in 160	1 in 1,700
Ashkenazi Jewish	~13k	1 in 840	none seen
Middle Eastern	~2,867	1 in 220	≈ 1 in 1,300

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.

Exome coverage (gnomAD): 6 of 7 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 7.? see exons ↓