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|Synonyms||bA517O1.1 | HPE13 | MKMS | NEDXCF | SA-2 | SA2 | SCC3B|
|Gene Description||STAG2, cohesin subunit SA-2, functions as part of the cohesin complex to regulate spindle formation and sister chromatid association in mitosis (PMID: 12034751, PMID: 24854081, PMID: 29175904). Somatic STAG2 mutations have been reported in glioblastoma, Ewing's sarcoma, bladder cancer, and melanoma, and loss of Stag2 expression has been demonstrated in a variety of other tumor types, including bladder cancer (PMID: 22668012, PMID: 28627627, PMID: 27207471, PMID: 29954776).|
|Variant||Impact||Protein Effect||Variant Description||Associated with drug Resistance|
|inact mut||unknown||loss of function||STAG2 inact mut indicates that this variant results in a loss of function of the Stag2 protein. However, the specific amino acid change has not been identified.|
|mutant||unknown||unknown||STAG2 mutant indicates an unspecified mutation in the STAG2 gene.|
|N357fs||frameshift||loss of function||STAG2 N357fs results in a change in the amino acid sequence of the Stag2 protein beginning at aa 357 of 1231, likely resulting in premature truncation of the functional protein (UniProt.org). N357fs results in a loss of Stag2 protein expression and defective sister chromatid cohesion and is associated with chromosomal instability in cell culture (PMID: 21852505).|
|T626fs||frameshift||loss of function - predicted||STAG2 T626fs results in a change in the amino acid sequence of the Stag2 protein beginning at aa 626 of 1231, likely resulting in premature truncation of the functional protein (UniProt.org). T626fs has not been characterized, however, due to the effects of Stag2 truncating mutations downstream of T626 (PMID: 26871722, PMID: 21852505), T626fs is predicted to lead to a loss of Stag2 function.|