STAG3

Chr 7q22.1

STAG3 cohesin complex component

Aliases:: SA3
MANE:: ENST00000615138.5

OMIM: 608489 ↗NCBI: 10734 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

STAG3 · Q9UJ98

v62025-08-01

Predicted Aligned Error matrix for STAG3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.9/ 100

Confident

1,225 residues

Confidence breakdown

Very high(≥ 90)58%
Confident(70–90)16%
Low(50–70)3%
Very low(< 50)23%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Primary ovarian insufficiency
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

premature ovarian failure 8
0.70
spermatogenic failure 61
0.65
primary ovarian failure
0.46
male infertility with azoospermia or oligozoospermia due to single gene mutation
0.39
Premature ovarian insufficiency
0.37
Spermatogenesis maturation arrest
0.33
female infertility
0.27
Hypomyelination - congenital cataract
0.27
hypomyelinating leukodystrophy 5
0.27
hereditary disease
0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cohesin subunit SA-3

Meiosis specific component of cohesin complex. The cohesin complex is required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I