STATH

Chr 4

statherin

Also known as: STR

NCBI Gene: 6779 ENSG00000126549 UniProt: P02808 OMIM: 184470

The protein is a salivary component that stabilizes calcium salts in saliva and inhibits calcium phosphate precipitation, serving as a structural constituent of tooth enamel and modulating hydroxyapatite crystal formation on tooth surfaces. Based on current databases, no human diseases have been definitively associated with STATH mutations. The gene shows low constraint against loss-of-function variants, suggesting such variants may be well-tolerated.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable extracellular matrix constituent, lubricant activity and hydroxyapatite binding activity. Predicted to be a structural constituent of tooth enamel. Predicted to be involved in antimicrobial humoral immune response mediated by antimicrobial peptide and killing of cells of another organism. Predicted to be located in extracellular region. Predicted to be active in mitochondrion and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.81

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.81LOEUF

pLI 0.000

Z-score -0.10

OE 1.04 (0.56–1.81)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.31Z-score

OE missense 1.15 (0.89–1.51)

38 obs / 33.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.04 (0.56–1.81)

0≤0.351.4

Missense OE?1.15 (0.89–1.51)

0≤0.61.4

Synonymous OE?1.63

0≤1.21.6

LoF obs/exp: 6 / 5.7Missense obs/exp: 38 / 33.1Syn Z: -1.65

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

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 540

84 rare PASS variants

Rare truncating (LoF)

1 in 1,100

28 rare PASS variants

Rare synonymous (reference)

1 in 2,100

28 rare PASS variants

Rare missense and truncating variants are carried at similar rates in STATH; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 8 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 750	1 in 6,100
South Asian	~43k	1 in 280	1 in 830
Remaining (unassigned)	~30k	1 in 490	1 in 1,300
European (Finnish)	~27k	1 in 920	≈ 1 in 27,000
Admixed American	~22k	1 in 290	1 in 2,200
African / African American	~21k	1 in 590	≈ 1 in 17,000
East Asian	~20k	1 in 2,800	none seen
Middle Eastern	~2,882	≈ 1 in 1,400	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): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓