STAG3

Chr 7

STAG3 cohesin complex component

Also known as: SA3, SPGF61

The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPremature ovarian failure 8
UniProtSpermatogenic failure 61
0
Active trials
20
Pubs (1 yr)
P/LP submissions
P/LP missense
0.61
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.61LOEUF
pLI 0.000
Z-score 4.32
OE 0.45 (0.340.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.66Z-score
OE missense 0.82 (0.770.88)
569 obs / 691.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.45 (0.340.61)
00.351.4
Missense OE?0.82 (0.770.88)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 33 / 72.8Missense obs/exp: 569 / 691.7Syn Z: 1.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

STAG3 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →