Gene Gene information from NCBI Gene database.
Entrez ID 10735
Gene name STAG2 cohesin complex component
Gene symbol STAG2
Synonyms (NCBI Gene)
HPE13MKMSNEDXCFSA-2SA2SCC3BbA517O1.1
Chromosome X
Chromosome location Xq25
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 geneti
SNPs SNP information provided by dbSNP.
12
SNP ID Visualize variation Clinical significance Consequence
rs1374370833 A>G,T Pathogenic Coding sequence variant, missense variant, synonymous variant
rs1569507848 C>T Pathogenic Coding sequence variant, stop gained, 5 prime UTR variant
rs1569510978 C>T Likely-pathogenic Coding sequence variant, stop gained
rs1569511477 A>G Pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs1569512722 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
464
miRTarBase ID miRNA Experiments Reference
MIRT020913 hsa-miR-155-5p Proteomics 18668040
MIRT025332 hsa-miR-34a-5p Proteomics 21566225
MIRT025332 hsa-miR-34a-5p Proteomics 21566225
MIRT031017 hsa-miR-21-5p Sequencing 20371350
MIRT047306 hsa-miR-181a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000775 Component Chromosome, centromeric region TAS
GO:0000785 Component Chromatin IBA
GO:0000785 Component Chromatin IDA 16682347
GO:0001650 Component Fibrillar center IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300826 11355 ENSG00000101972
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8N3U4
Protein name Cohesin subunit SA-2 (SCC3 homolog 2) (Stromal antigen 2)
Protein function Component of cohesin complex, a complex required for the cohesion of sister chromatids after DNA replication. The cohesin complex apparently forms a large proteinaceous ring within which sister chromatids can be trapped. At anaphase, the complex
PDB 4PJU , 4PJW , 4PK7 , 6QNX , 7ZJS , 8K4D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08514 STAG 157 271 STAG domain Family
Sequence
MIAAPEIPTDFNLLQESETHFSSDTDFEDIEGKNQKQGKGKTCKKGKKGPAEKGKGGNGG
GKPPSGPNRMNGHHQQNGVENMMLFEVVKMGKSAMQSVVDDWIESYKHDRDIALLDLINF
FIQCSGCKGVVTAEMFRHMQNSEIIRKMTEEFDEDSGDYPLTMAGPQWKKFKSSFCEFIG
VLVRQCQYSIIYDEYMMDTVISLLTGLSDSQVRAFRHTSTLAAMKLMTALVNVALNLSIN
MDNTQRQYEAERNKMIGKRANERLELLLQKR
KELQENQDEIENMMNAIFKGVFVHRYRDA
IAEIRAICIEEIGIWMKMYSDAFLNDSYLKYVGWTMHDKQGEVRLKCLTALQGLYYNKEL
NSKLELFTSRFKDRIVSMTLDKEYDVAVQAIKLLTLVLQSSEEVLTAEDCENVYHLVYSA
HRPVAVAAGEFLYKKLFSRRDPEEDGMMKRRGRQGPNANLVKTLVFFFLESELHEHAAYL
VDSMWDCATELLKDWECMNSLLLEEPLSGEEALTDRQESALIEIMLCTIRQAAECHPPVG
RGTGKRVLTAKEKKTQLDDRTKITELFAVALPQLLAKYSVDAEKVTNLLQLPQYFDLEIY
TTGRLEKHLDALLRQIRNIVEKHTDTDVLEACSKTYHALCNEEFTIFNRVDISRSQLIDE
LADKFNRLLEDFLQEGEEPDEDDAYQVLSTLKRITAFHNAHDLSKWDLFACNYKLLKTGI
ENGDMPEQIVIHALQCTHYVILWQLAKITESSSTKEDLLRLKKQMRVFCQICQHYLTNVN
TTVKEQAFTILCDILMIFSHQIMSGGRDMLEPLVYTPDSSLQSELLSFILDHVFIEQDDD
NNSADGQQEDEASKIEALHKRRNLLAAFCKLIVYTVVEMNTAADIFKQYMKYYNDYGDII
KETMSKTRQIDKIQCAKTLILSLQQLFNEMIQENGYNFDRSSSTFSGIKELARRFALTFG
LDQLKTREAIAMLHKDGIEFAFKEPNPQGESHPPLNLAFLDILSEFSSKLLRQDKRTVYV
YLEKFMTFQMSLRREDVWLPLMSYRNSLLAGGDDDTMSVISGISSRGSTVRSKKSKPSTG
KRKVVEGMQLSLTEESSSSDSMWLSREQTLHTPVMMQTPQLTSTIMREPKRLRPEDSFMS
VYPMQTEHHQTPLDYNRRGTSLMEDDEEPIVEDVMMSSEGRIEDLNEGMDFDTMDIDLPP
SKNRRERTELKPDFFDPASIMDESVLGVSMF
Sequence length 1231
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle   Separation of Sister Chromatids
Establishment of Sister Chromatid Cohesion
Cohesin Loading onto Chromatin
Resolution of Sister Chromatid Cohesion
SUMOylation of DNA damage response and repair proteins
Estrogen-dependent gene expression
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
117
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Holoprosencephaly 13, X-linked Pathogenic; Likely pathogenic rs2148280047, rs2148209339, rs2522404519, rs1569507848, rs1317614761, rs2057753419 RCV001787300
RCV003148140
RCV003336032
RCV001072112
RCV001072113
RCV001072114
Mullegama-Klein-Martinez syndrome Likely pathogenic; Pathogenic rs1216415127, rs2148326568, rs2522404519, rs1569511477, rs1569515507, rs1569507848, rs1569512722, rs1374370833, rs1569520709, rs1602977573 RCV001813902
RCV001823051
RCV003336032
RCV000761369
RCV000761367
RCV000761364
RCV000761365
RCV000761366
RCV001664804
RCV000995651
Neurodevelopmental disorder Likely pathogenic rs2521414161 RCV003389224
See cases Likely pathogenic; Pathogenic rs2058033367 RCV005930300
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia - rs1384395542 RCV006173812
Cervical cancer Benign; Likely benign rs766097406 RCV005898080
Colon adenocarcinoma Benign rs763462625 RCV005871338
Hepatocellular carcinoma Benign rs763462625 RCV005871339
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenomyosis Associate 36708516
Aneuploidy Associate 21852505, 24318971
Attention Deficit Disorder with Hyperactivity Associate 28296084
Behcet Syndrome Associate 36864496
Bjornstad syndrome Associate 37558665
Bone Marrow Diseases Associate 34529785, 36727400
Breast Neoplasms Associate 29559730
Calcinosis Cutis Associate 36221002
Carcinogenesis Inhibit 28819029
Carcinogenesis Associate 34462321, 34648034