Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10735
Gene name Gene Name - the full gene name approved by the HGNC.
STAG2 cohesin complex component
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STAG2
Synonyms (NCBI Gene) Gene synonyms aliases
HPE13, MKMS, NEDXCF, SA-2, SA2, SCC3B, bA517O1.1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HPE13, MKMS
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq25
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region TAS
GO:0000785 Component Chromatin IBA 21873635
GO:0000785 Component Chromatin IDA 16682347
GO:0003682 Function Chromatin binding IBA 21873635
GO:0005515 Function Protein binding IPI 15737063, 15855230, 16682347, 17112726, 17113138, 17349791, 17962804, 18235444, 19629043, 20360068, 20818333, 22885700, 23242214, 24981860, 25173175, 26496610, 29263825, 29867216, 30021884
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
300826 11355 ENSG00000101972
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Autism Autistic behavior rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
25450604
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
25450604
Glioblastoma Glioblastoma Multiforme rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888
Unknown
Disease term Disease name Evidence References Source
Xq25 Duplication Syndrome Xq25 microduplication syndrome GenCC
Associations from Text Mining
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