STOML3

Chr 13

stomatin like 3

Also known as: Epb7.2l, SRO

NCBI Gene: 161003 ENSG00000133115 UniProt: Q8TAV4

STOML3 encodes a protein that modulates mechanotransduction channels including PIEZO1, PIEZO2, and acid-sensing ion channels, and is required for proper mechanoreceptor function. Mutations cause autosomal recessive congenital insensitivity to pain with anhidrosis, affecting the peripheral nervous system's ability to sense mechanical stimuli and pain. This condition presents from birth with inability to feel pain and absence of sweating, leading to recurrent injuries and hyperthermia.

ResearchSummary from RefSeq, UniProt

Predicted to enable ion channel inhibitor activity. Predicted to act upstream of or within signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.73

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.73LOEUF

pLI 0.000

Z-score -0.73

OE 1.20 (0.83–1.73)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.37Z-score

OE missense 1.08 (0.96–1.22)

185 obs / 171.3 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.20 (0.83–1.73)

0≤0.351.4

Missense OE?1.08 (0.96–1.22)

0≤0.61.4

Synonymous OE?0.84

0≤1.21.6

LoF obs/exp: 19 / 15.8Missense obs/exp: 185 / 171.3Syn Z: 1.06

Background carrier burden — how many people carry a rare variant somewhere in STOML3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

416 rare PASS variants

Rare truncating (LoF)

1 in 1,800

67 rare PASS variants

Rare synonymous (reference)

1 in 330

133 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for STOML3. 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 150	1 in 2,400
South Asian	~43k	1 in 130	1 in 460
Remaining (unassigned)	~30k	1 in 95	1 in 520
European (Finnish)	~27k	1 in 280	1 in 1,900
Admixed American	~22k	1 in 70	1 in 360
African / African American	~21k	1 in 99	1 in 880
East Asian	~20k	1 in 120	1 in 3,900
Ashkenazi Jewish	~13k	1 in 620	1 in 2,600
Middle Eastern	~2,884	1 in 85	1 in 560

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓