TMEM62

Chr 15

transmembrane protein 62

NCBI Gene: 80021 ENSG00000137842 UniProt: Q0P6H9

Predicted to enable hydrolase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to enable hydrolase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.04

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.04LOEUF

pLI 0.000

Z-score 1.40

OE 0.72 (0.51–1.04)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.12Z-score

OE missense 0.83 (0.75–0.91)

273 obs / 330.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.72 (0.51–1.04)

0≤0.351.4

Missense OE?0.83 (0.75–0.91)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 21 / 29.1Missense obs/exp: 273 / 330.2Syn Z: 0.84

Background carrier burden — how many people carry a rare variant somewhere in TMEM62?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 99

734 rare PASS variants

Rare truncating (LoF)

1 in 860

124 rare PASS variants

Rare synonymous (reference)

1 in 210

280 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TMEM62. 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 130	1 in 990
South Asian	~43k	1 in 84	1 in 1,100
Remaining (unassigned)	~30k	1 in 68	1 in 460
European (Finnish)	~27k	1 in 220	1 in 3,000
Admixed American	~22k	1 in 78	1 in 1,100
African / African American	~21k	1 in 88	1 in 1,000
East Asian	~20k	1 in 83	1 in 960
Ashkenazi Jewish	~13k	1 in 350	≈ 1 in 11,000
Middle Eastern	~2,884	1 in 150	≈ 1 in 1,400

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): 11 of 14 coding exons well covered in gnomAD exomes; exons 1, 4, 10 marginal. Genomes: all 14.? see exons ↓