SESN3

Chr 11

sestrin 3

Also known as: SEST3

NCBI Gene: 143686 ENSG00000149212 UniProt: P58005 OMIM: 607768

This gene encodes a member of the sestrin family of stress-induced proteins. The encoded protein reduces the levels of intracellular reactive oxygen species induced by activated Ras downstream of RAC-alpha serine/threonine-protein kinase (Akt) and FoxO transcription factor. The protein is required for normal regulation of blood glucose, insulin resistance and plays a role in lipid storage in obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

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 SESN3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 170

457 rare PASS variants

Rare truncating (LoF)

1 in 6,900

46 rare PASS variants

Rare synonymous (reference)

1 in 260

192 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SESN3. 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 160	1 in 8,800
South Asian	~43k	1 in 190	1 in 2,200
Remaining (unassigned)	~30k	1 in 190	≈ 1 in 29,000
European (Finnish)	~27k	1 in 570	1 in 5,100
Admixed American	~22k	1 in 240	1 in 2,500
African / African American	~21k	1 in 140	1 in 3,500
East Asian	~20k	1 in 250	none seen
Ashkenazi Jewish	~13k	1 in 1,400	1 in 2,400
Middle Eastern	~2,884	1 in 220	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.

Exome coverage (gnomAD): 7 of 10 coding exons well covered in gnomAD exomes; exons 2, 7, 10 marginal. Genomes: all 10.? see exons ↓