STAG2 Chromosome X
STAG2 cohesin complex component
Upload your DNA to see your personal genotypes for variants in STAG2.
What This Gene Does
The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"Cohesin complex|Armadillo like helical domain containing|STAG family"
Locus Type
gene with protein product
Location
Xq25
Ensembl
ENSG00000101972
Associated Conditions (10)
Inborn genetic diseases
Mullegama-Klein-Martinez syndrome
Holoprosencephaly 13
X-linked
STAG2-related disorder
Neurodevelopmental disorder
Thyroid cancer
nonmedullary
1
See cases
Key Variants
RS1356736514
Conflicting classifications of pathogenicity
Health Risk
RS1481946219
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1603150613
Conflicting classifications of pathogenicity
Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
Health Risk
RS2057840623
Conflicting classifications of pathogenicity
Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
Health Risk
RS2523546164
Conflicting classifications of pathogenicity
Mullegama-Klein-Martinez syndrome, Holoprosencephaly 13, X-linked
Health Risk
RS369728409
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370347095
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1216415127
Likely pathogenic
Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome
Health Risk
RS1556553319
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1569510978
Likely pathogenic
STAG2-related disorder, STAG2-related disorder
Health Risk
RS1569511477
Likely pathogenic
STAG2-related disorder, Mullegama-Klein-Martinez syndrome, STAG2-related disorder
Health Risk
RS1569515507
Likely pathogenic
Mullegama-Klein-Martinez syndrome, STAG2-related disorder, Mullegama-Klein-Martinez syndrome
Health Risk
All Variants (34)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1356736514 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1481946219 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1603150613 | Health Risk | Conflicting classifications of pathogenicity | Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome |
| RS2057840623 | Health Risk | Conflicting classifications of pathogenicity | Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome |
| RS2523546164 | Health Risk | Conflicting classifications of pathogenicity | Mullegama-Klein-Martinez syndrome, Holoprosencephaly 13, X-linked |
| RS369728409 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS370347095 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1216415127 | Health Risk | Likely pathogenic | Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome |
| RS1556553319 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569510978 | Health Risk | Likely pathogenic | STAG2-related disorder, STAG2-related disorder |
| RS1569511477 | Health Risk | Likely pathogenic | STAG2-related disorder, Mullegama-Klein-Martinez syndrome, STAG2-related disorder |
| RS1569515507 | Health Risk | Likely pathogenic | Mullegama-Klein-Martinez syndrome, STAG2-related disorder, Mullegama-Klein-Martinez syndrome |
| RS1569515729 | Health Risk | Likely pathogenic | STAG2-related disorder, STAG2-related disorder |
| RS2148208689 | Health Risk | Likely pathogenic | — |
| RS2148343294 | Health Risk | Likely pathogenic | — |
| RS2148446128 | Health Risk | Likely pathogenic | — |
| RS2521414161 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2522404519 | Health Risk | Likely pathogenic | Holoprosencephaly 13, X-linked, Mullegama-Klein-Martinez syndrome |
| RS767025385 | Health Risk | Likely pathogenic | STAG2-related disorder, Thyroid cancer, nonmedullary |
| RS1317614761 | Health Risk | Pathogenic | Holoprosencephaly 13, X-linked, Holoprosencephaly 13 |
| RS1374370833 | Health Risk | Pathogenic | Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome |
| RS1569507848 | Health Risk | Pathogenic | Mullegama-Klein-Martinez syndrome, Holoprosencephaly 13, X-linked |
| RS1569512722 | Health Risk | Pathogenic | Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome |
| RS1569520709 | Health Risk | Pathogenic | Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome |
| RS1602977573 | Health Risk | Pathogenic | Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome |
| RS2057753419 | Health Risk | Pathogenic | Holoprosencephaly 13, X-linked, Holoprosencephaly 13 |
| RS2058961860 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2148179919 | Health Risk | Pathogenic | — |
| RS2148209339 | Health Risk | Pathogenic | Holoprosencephaly 13, X-linked, Holoprosencephaly 13 |
| RS2148280047 | Health Risk | Pathogenic | Holoprosencephaly 13, X-linked, Holoprosencephaly 13 |
| RS2148320989 | Health Risk | Pathogenic | — |
| RS2148326568 | Health Risk | Pathogenic | Mullegama-Klein-Martinez syndrome, Mullegama-Klein-Martinez syndrome |
| RS2521963688 | Health Risk | Pathogenic | — |
| RS2058033367 | Health Risk | Pathogenic/Likely pathogenic | See cases, See cases |