STAG3 Chromosome 7
STAG3 cohesin complex component
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What This Gene Does
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]
Gene Info
Gene Group
"Cohesin complex|Armadillo like helical domain containing|STAG family"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000066923
Associated Conditions (12)
Inborn genetic diseases
Spermatogenesis maturation arrest
Non-obstructive azoospermia
Spermatogenic failure 61
Premature ovarian failure 8
Premature ovarian insufficiency
Hypomyelination and Congenital Cataract
Female infertility
Abnormality of the ovary
STAG3-related disorder
PRIMARY OVARIAN FAILURE 8
Premature ovarian failure
Key Variants
RS147584531
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1161498711
Likely pathogenic
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Spermatogenic failure 61
Health Risk
RS1296715259
Likely pathogenic
Health Risk
RS1554406947
Likely pathogenic
Health Risk
RS1800917478
Likely pathogenic
Premature ovarian failure 8, Premature ovarian failure 8
Health Risk
RS2117315457
Likely pathogenic
Non-obstructive azoospermia, Premature ovarian insufficiency, Non-obstructive azoospermia
Health Risk
RS2117331664
Likely pathogenic
Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract
Health Risk
RS2117399949
Likely pathogenic
Health Risk
RS2485013405
Likely pathogenic
Premature ovarian failure 8, Premature ovarian failure 8
Health Risk
RS2485150298
Likely pathogenic
Premature ovarian failure 8, Premature ovarian failure 8
Health Risk
RS751680143
Likely pathogenic
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Spermatogenic failure 61
Health Risk
RS752098175
Likely pathogenic
Premature ovarian failure 8, Premature ovarian failure 8
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147584531 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1161498711 | Health Risk | Likely pathogenic | Spermatogenesis maturation arrest, Non-obstructive azoospermia, Spermatogenic failure 61 |
| RS1296715259 | Health Risk | Likely pathogenic | — |
| RS1554406947 | Health Risk | Likely pathogenic | — |
| RS1800917478 | Health Risk | Likely pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS2117315457 | Health Risk | Likely pathogenic | Non-obstructive azoospermia, Premature ovarian insufficiency, Non-obstructive azoospermia |
| RS2117331664 | Health Risk | Likely pathogenic | Hypomyelination and Congenital Cataract, Hypomyelination and Congenital Cataract |
| RS2117399949 | Health Risk | Likely pathogenic | — |
| RS2485013405 | Health Risk | Likely pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS2485150298 | Health Risk | Likely pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS751680143 | Health Risk | Likely pathogenic | Spermatogenesis maturation arrest, Non-obstructive azoospermia, Spermatogenic failure 61 |
| RS752098175 | Health Risk | Likely pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS764841861 | Health Risk | Likely pathogenic | Premature ovarian insufficiency, Female infertility, Abnormality of the ovary |
| RS770908481 | Health Risk | Likely pathogenic | STAG3-related disorder, STAG3-related disorder |
| RS1251996684 | Health Risk | Pathogenic | Spermatogenic failure 61, Spermatogenic failure 61 |
| RS2117072612 | Health Risk | Pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS2117333857 | Health Risk | Pathogenic | Spermatogenic failure 61, Spermatogenic failure 61 |
| RS2117524953 | Health Risk | Pathogenic | PRIMARY OVARIAN FAILURE 8, PRIMARY OVARIAN FAILURE 8 |
| RS376787666 | Health Risk | Pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS587777267 | Health Risk | Pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS774733445 | Health Risk | Pathogenic | Premature ovarian failure, Premature ovarian failure |
| RS777219629 | Health Risk | Pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS869320765 | Health Risk | Pathogenic | Premature ovarian failure 8, Premature ovarian failure 8 |
| RS1031011371 | Health Risk | Pathogenic/Likely pathogenic | Premature ovarian failure 8, Spermatogenic failure 61, PRIMARY OVARIAN FAILURE 8 |