STATH

Chr 4

statherin

Also known as: STR

NCBI Gene: 6779ENSG00000126549UniProt: P02808

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 negative regulation of bone mineralization; ossification; and saliva secretion. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.81
LOEUF
Multiple*
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?
1.81LOEUF
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

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

STATH · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients