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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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STAG3
STAG3 cohesin complex component
Chromosome 7 Β· 7q22.1
NCBI Gene: 10734Ensembl: ENSG00000066923.19HGNC: HGNC:11356UniProt: D6W5U7
37PubMed Papers
22Diseases
0Drugs
25Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nucleoplasmmeiotic cohesin complexestablishment of meiotic sister chromatid cohesionGO:0005615premature ovarian failure 8spermatogenic failure 61primary ovarian insufficiencyazoospermia
✦AI Summary

STAG3 is a meiosis-specific component of the cohesin complex that plays critical roles in chromosome 7 and gametogenesis 1. The protein is specifically expressed in testis and associates with the synaptonemal complex, functioning in chromosome 7 and maintenance of synaptonemal complex structure during meiotic pachytene phase 1. Recent findings reveal that STAG3 also forms a mitotic cohesin complex in male germline cells, where it shapes chr7 organization by attenuating topologically associating domains and facilitating compartmentalization, thereby programming the distinctive spermatogonial nucleome 2. The protein is essential for proper meiotic progression, as mutations cause meiotic arrest at the pachytene stage 3. Pathogenic variants in STAG3 are associated with primary ovarian insufficiency (POI) and male infertility, with both truncating and in-frame mutations identified as disease-causing 45. The clinical significance extends beyond reproductive health, as mitotic STAG3-cohesin is also expressed in human B cells and their malignant variations, potentially influencing cell propagation 2. STAG3 mutations represent a notable genetic cause of infertility in both sexes, with implications for genetic counseling and prognosis in assisted reproduction procedures 3.

Sources cited
1
STAG3 is meiosis-specific, expressed in testis, associates with synaptonemal complex, and functions in chromosome pairing
PMID: 10698974
2
STAG3 forms mitotic cohesin complex in male germline cells and shapes chromatin organization
PMID: 40855131
3
STAG3 mutations cause meiotic arrest and male infertility
PMID: 31125047
4
STAG3 pathogenic variants cause primary ovarian insufficiency
PMID: 35503298
5
In-frame STAG3 variants are pathogenic and cause POI
PMID: 31803224
Disease Associationsβ“˜22
premature ovarian failure 8Open Targets
0.69Moderate
spermatogenic failure 61Open Targets
0.65Moderate
primary ovarian insufficiencyOpen Targets
0.46Moderate
azoospermiaOpen Targets
0.39Weak
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.39Weak
Premature ovarian insufficiencyOpen Targets
0.37Weak
Spermatogenesis maturation arrestOpen Targets
0.33Weak
female infertilityOpen Targets
0.27Weak
hypomyelinating leukodystrophy 5Open Targets
0.27Weak
Hypomyelination - congenital cataractOpen Targets
0.27Weak
ovarian diseaseOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
partial chromosome Y deletionOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
spermatogenic failure 8Open Targets
0.07Suggestive
spermatogenic failure 25Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 22Open Targets
0.06Suggestive
Premature ovarian failure 8UniProt
Spermatogenic failure 61UniProt
Pathogenic Variants25
NM_001282717.2(STAG3):c.2776C>T (p.Arg926Ter)Likely pathogenic
Premature ovarian insufficiency;Female infertility|Abnormality of the ovary;Premature ovarian insufficiency|Premature ovarian failure 8|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 926
NM_001282717.2(STAG3):c.2773del (p.Ser925fs)Pathogenic
Premature ovarian failure 8
β˜…β˜†β˜†β˜†2026β†’ Residue 925
NM_001282717.2(STAG3):c.2291del (p.Asp764fs)Likely pathogenic
Hypomyelination and Congenital Cataract
β˜…β˜†β˜†β˜†2025β†’ Residue 764
NM_001282717.2(STAG3):c.2821C>T (p.Gln941Ter)Pathogenic
Premature ovarian failure 8
β˜…β˜†β˜†β˜†2025β†’ Residue 941
NM_001282717.2(STAG3):c.709del (p.Leu237fs)Likely pathogenic
STAG3-related disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 237
NM_001282717.2(STAG3):c.2221-1_2225delinsACLikely pathogenic
Premature ovarian failure 8
β˜…β˜†β˜†β˜†2022
NM_001282717.2(STAG3):c.3369_3381del (p.Glu1124fs)Likely pathogenic
Premature ovarian failure 8
β˜…β˜†β˜†β˜†2022β†’ Residue 1124
NM_001282717.2(STAG3):c.1953_1955del (p.Leu652del)Likely pathogenic
Non-obstructive azoospermia|Premature ovarian insufficiency
β˜…β˜†β˜†β˜†2021β†’ Residue 652
NM_001282717.2(STAG3):c.1069C>T (p.Arg357Ter)Pathogenic
Premature ovarian failure
β˜…β˜†β˜†β˜†2020β†’ Residue 357
NM_001282717.2(STAG3):c.3106C>T (p.Gln1036Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 1036
NM_001282717.2(STAG3):c.1571del (p.Gln524fs)Likely pathogenic
Premature ovarian failure 8
β˜…β˜†β˜†β˜†2019β†’ Residue 524
NM_001282717.2(STAG3):c.1312C>T (p.Arg438Ter)Likely pathogenic
Spermatogenesis maturation arrest;Non-obstructive azoospermia|Spermatogenic failure 61
β˜…β˜†β˜†β˜†2019β†’ Residue 438
NM_001282717.2(STAG3):c.1262T>G (p.Leu421Arg)Likely pathogenic
Spermatogenesis maturation arrest;Non-obstructive azoospermia|Spermatogenic failure 61
β˜…β˜†β˜†β˜†2019β†’ Residue 421
NM_001282717.2(STAG3):c.1065+1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_001282717.2(STAG3):c.337-2A>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2017
NM_001282717.2(STAG3):c.3550G>T (p.Glu1184Ter)Likely pathogenic
Premature ovarian failure 8
β˜…β˜†β˜†β˜†β†’ Residue 1184
NM_001282717.2(STAG3):c.291dup (p.Asn98fs)Pathogenic
Premature ovarian failure 8
β˜†β˜†β˜†β˜†2021β†’ Residue 98
NM_001282717.2(STAG3):c.962G>A (p.Arg321His)Pathogenic
Premature ovarian failure 8|Spermatogenic failure 61|PRIMARY OVARIAN FAILURE 8
β˜†β˜†β˜†β˜†2021β†’ Residue 321
NM_001282717.2(STAG3):c.2394+1G>APathogenic
Spermatogenic failure 61
β˜†β˜†β˜†β˜†2021
NM_001282717.2(STAG3):c.3381_3384del (p.Glu1128fs)Pathogenic
PRIMARY OVARIAN FAILURE 8
β˜†β˜†β˜†β˜†2021β†’ Residue 1128
View on ClinVar β†—
Related Genes
PDS5AProtein interaction100%SYCE2Protein interaction100%PDS5BProtein interaction100%SYCE3Protein interaction99%NIPBLProtein interaction98%SGO2Protein interaction98%
Tissue Expression6 tissues
Ovary
100%
Liver
57%
Bone Marrow
57%
Brain
57%
Lung
35%
Heart
14%
Gene Interaction Network
Click a node to explore
STAG3PDS5ASYCE2PDS5BSYCE3NIPBLSGO2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9UJ98
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.65 [0.55–0.77]
RankingsWhere STAG3 stands among ~20K protein-coding genes
  • #10,700of 20,598
    Most Researched37
  • #1,989of 5,498
    Most Pathogenic Variants25
  • #6,172of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedSTAG3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetics of primary ovarian insufficiency: new developments and opportunities.
PMID: 26243799
Hum Reprod Update Β· 2015
1.00
2
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
0.90
3
The mitotic STAG3-cohesin complex shapes male germline nucleome.
PMID: 40855131
Nat Struct Mol Biol Β· 2025
0.80
4
Evaluation of the Stag3 gene and the synaptonemal complex in a rat model (as/as) for male infertility.
PMID: 11599053
Mol Reprod Dev Β· 2001
0.70
5
New STAG3 gene variant as a cause of premature ovarian insufficiency.
PMID: 35503298
Rev Colomb Obstet Ginecol Β· 2022
0.60