STAG2 STAG2 cohesin complex component
Gene ID: 10735, updated on 5-Mar-2024Gene type: protein coding
Also known as: SA2; MKMS; SA-2; HPE13; SCC3B; NEDXCF; bA517O1.1
- See all available tests in GTR for this gene
- Go to complete Gene record for STAG2
- Go to Variation Viewer for STAG2 variants
Summary
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]
Associated conditions
Copy number response
Description |
---|
Copy number response Triplosensitivity No evidence available (Last evaluated 2023-01-25) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-25) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- Xq25
- Sequence:
- Chromosome: X; NC_000023.11 (123960560..124102656)
- Total number of exons:
- 40
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for STAG2 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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