Human Gene STAG2 (ENST00000371145.8_7) from GENCODE V47lift37
  Description: stromal antigen 2, transcript variant 12 (from RefSeq NM_001375372.1)
Gencode Transcript: ENST00000371145.8_7
Gencode Gene: ENSG00000101972.20_10
Transcript (Including UTRs)
   Position: hg19 chrX:123,095,556-123,236,506 Size: 140,951 Total Exon Count: 35 Strand: +
Coding Region
   Position: hg19 chrX:123,156,478-123,234,447 Size: 77,970 Coding Exon Count: 33 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:123,095,556-123,236,506)mRNA (may differ from genome)Protein (1268 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsHGNC
MalacardsMGIPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: STAG2_HUMAN
DESCRIPTION: RecName: Full=Cohesin subunit SA-2; AltName: Full=SCC3 homolog 2; AltName: Full=Stromal antigen 2;
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 is cleaved and dissociates from chromatin, allowing sister chromatids to segregate. The cohesin complex may also play a role in spindle pole assembly during mitosis.
SUBUNIT: Interacts directly with RAD21 in cohesin complex. Cohesin complexes are composed of a heterodimer between a SMC1 protein (SMC1A or SMC1B) and SMC3, which are attached via their hinge domain, and RAD21 which link them at their heads, and one STAG protein (STAG1, STAG2 or STAG3). In cohesin complexes, STAG2 is mutually exclusive with STAG1 and STAG3.
INTERACTION: Q29RF7:PDS5A; NbExp=3; IntAct=EBI-1057252, EBI-1175454; Q9NTI5:PDS5B; NbExp=3; IntAct=EBI-1057252, EBI-1175604; Q9UQE7:SMC3; NbExp=6; IntAct=EBI-1057252, EBI-80718;
SUBCELLULAR LOCATION: Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. Before prophase it is scattered along chromosome arms. During prophase, most of cohesin complexes dissociate from chromatin probably because of phosphorylation by PLK1, except at centromeres, where cohesin complexes remain. At anaphase, the RAD21 subunit of cohesin is cleaved, leading to the dissociation of the complex from chromosomes, allowing chromosome separation. In germ cells, cohesin complex dissociates from chromatin at prophase I, and may be replaced by a meiosis-specific cohesin complex.
PTM: Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity).
SIMILARITY: Belongs to the SCC3 family.
SIMILARITY: Contains 1 SCD (stromalin conservative) domain.
SEQUENCE CAUTION: Sequence=CAA99732.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: STAG2
Diseases sorted by gene-association score: laryngotracheitis (17), tracheitis (11), embryonal testis carcinoma (6), lip disease (5), cornelia de lange syndrome (2), ewing sarcoma (2), leukemia, acute myeloid (0)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • C023514 2,6-dinitrotoluene
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • C009505 4,4'-diaminodiphenylmethane
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D016604 Aflatoxin B1
  • D001564 Benzo(a)pyrene
  • D004390 Chlorpyrifos
  • D003010 Clorgyline
  • D019327 Copper Sulfate
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 21.08 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 489.16 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.00313-0.275 Picture PostScript Text
3' UTR -428.902059-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR020839 - SCD
IPR013721 - STAG

Pfam Domains:
PF08514 - STAG domain

SCOP Domains:
48371 - ARM repeat
51735 - NAD(P)-binding Rossmann-fold domains

ModBase Predicted Comparative 3D Structure on Q8N3U4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007049 cell cycle
GO:0007059 chromosome segregation
GO:0007062 sister chromatid cohesion
GO:0032876 negative regulation of DNA endoreduplication
GO:0051301 cell division
GO:0051321 meiotic cell cycle
GO:1901673 regulation of mitotic spindle assembly

Cellular Component:
GO:0000775 chromosome, centromeric region
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol
GO:0008278 cohesin complex
GO:0016020 membrane
GO:0016363 nuclear matrix
GO:0097431 mitotic spindle pole


-  Descriptions from all associated GenBank mRNAs
  BX640970 - Homo sapiens mRNA; cDNA DKFZp686I05169 (from clone DKFZp686I05169).
AK298633 - Homo sapiens cDNA FLJ58155 complete cds, highly similar to Cohesin subunit SA-2.
AK313559 - Homo sapiens cDNA, FLJ94121, highly similar to Homo sapiens stromal antigen 2 (STAG2), mRNA.
CR627425 - Homo sapiens mRNA; cDNA DKFZp686P168 (from clone DKFZp686P168).
BX641002 - Homo sapiens mRNA; cDNA DKFZp686P16143 (from clone DKFZp686P16143); complete cds.
CR749433 - Homo sapiens mRNA; cDNA DKFZp781H1753 (from clone DKFZp781H1753).
AL831939 - Homo sapiens mRNA; cDNA DKFZp451H0217 (from clone DKFZp451H0217).
BX641003 - Homo sapiens mRNA; cDNA DKFZp686C21148 (from clone DKFZp686C21148); complete cds.
BC001765 - Homo sapiens stromal antigen 2, mRNA (cDNA clone MGC:1282 IMAGE:3352347), complete cds.
AB587326 - Synthetic construct DNA, clone: pF1KB6010, Homo sapiens STAG2 gene for stromal antigen 2, without stop codon, in Flexi system.
JF432728 - Synthetic construct Homo sapiens clone IMAGE:100073971 stromal antigen 2 (STAG2) gene, encodes complete protein.
KJ893122 - Synthetic construct Homo sapiens clone ccsbBroadEn_02516 STAG2 gene, encodes complete protein.
Z75331 - H.sapiens mRNA for nuclear protein SA-2.
AK098737 - Homo sapiens cDNA FLJ25871 fis, clone CBR02156, highly similar to H.sapiens mRNA for nuclear protein SA-2.
JD196567 - Sequence 177591 from Patent EP1572962.
JD469088 - Sequence 450112 from Patent EP1572962.
JD477987 - Sequence 459011 from Patent EP1572962.
JD386531 - Sequence 367555 from Patent EP1572962.
AK026678 - Homo sapiens cDNA: FLJ23025 fis, clone LNG01702, highly similar to HUMAUTOND Human autonomously replicating sequence (ARS) mRNA.
JD312464 - Sequence 293488 from Patent EP1572962.
JD510812 - Sequence 491836 from Patent EP1572962.
JD511206 - Sequence 492230 from Patent EP1572962.
JD091875 - Sequence 72899 from Patent EP1572962.
JD090746 - Sequence 71770 from Patent EP1572962.
JD312411 - Sequence 293435 from Patent EP1572962.
BC017095 - Homo sapiens, clone IMAGE:3912106, mRNA.
JD166253 - Sequence 147277 from Patent EP1572962.
JD236360 - Sequence 217384 from Patent EP1572962.
JD352304 - Sequence 333328 from Patent EP1572962.
JD295815 - Sequence 276839 from Patent EP1572962.
JD227919 - Sequence 208943 from Patent EP1572962.
JD511214 - Sequence 492238 from Patent EP1572962.
JD110847 - Sequence 91871 from Patent EP1572962.
JD299371 - Sequence 280395 from Patent EP1572962.
JD563057 - Sequence 544081 from Patent EP1572962.
JD410539 - Sequence 391563 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8N3U4 (Reactome details) participates in the following event(s):

R-HSA-2468040 Cohesin binds PDS5 and WAPAL
R-HSA-3108212 SMC5-SMC6 Complex SUMOylates Cohesin with SUMO1
R-HSA-9011997 ESR1:ESTG, JUND:FOSB and Cohesin Complex bind distal enhancer elements in MYC gene promoter
R-HSA-2545203 Deacetylation of cleaved cohesin
R-HSA-2470935 Cohesin binding to decondensed chromatin is facilitated by NIPBL:MAU2
R-HSA-1638821 PP2A-B56 dephosphorylates centromeric cohesin
R-HSA-1638803 Phosphorylation of cohesin by PLK1 at centromeres
R-HSA-2468287 CDK1 phosphorylates CDCA5 (Sororin) at centromeres
R-HSA-2467811 Separation of sister chromatids
R-HSA-2467809 ESPL1 (Separase) cleaves centromeric cohesin
R-HSA-2545253 Deacetylation of cohesin
R-HSA-2467794 Resolution of sister chromatids
R-HSA-912467 BRCA1 is recruited to unsynapsed regions
R-HSA-912470 ATR phosphorylates Histone H2A.X at unsynapsed regions
R-HSA-2473152 Acetylation of SMC3 subunit of centromeric chromatin associated cohesin by ESCO1 or ESCO2
R-HSA-2468039 Acetylation of SMC3 subunit of chromosomal arm associated cohesin by ESCO1 or ESCO2
R-HSA-2473151 CDCA5 (Sororin) enables cohesion of sister centromeres
R-HSA-2468041 CDCA5 (Sororin) enables cohesion of sister chromosomal arms
R-HSA-2468293 CDK1 phosphorylates CDCA5 (Sororin) at chromosomal arms
R-HSA-2466068 Phosphorylation of cohesin by PLK1 at chromosomal arms
R-HSA-912450 ATR Kinase is recruited to unsynapsed regions
R-HSA-1221632 Meiotic synapsis
R-HSA-2470946 Cohesin Loading onto Chromatin
R-HSA-3108214 SUMOylation of DNA damage response and repair proteins
R-HSA-9018519 Estrogen-dependent gene expression
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-1500620 Meiosis
R-HSA-68884 Mitotic Telophase/Cytokinesis
R-HSA-3108232 SUMO E3 ligases SUMOylate target proteins
R-HSA-8939211 ESR-mediated signaling
R-HSA-2500257 Resolution of Sister Chromatid Cohesion
R-HSA-68882 Mitotic Anaphase
R-HSA-1474165 Reproduction
R-HSA-1640170 Cell Cycle
R-HSA-2468052 Establishment of Sister Chromatid Cohesion
R-HSA-68886 M Phase
R-HSA-2990846 SUMOylation
R-HSA-9006931 Signaling by Nuclear Receptors
R-HSA-68877 Mitotic Prometaphase
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-69242 S Phase
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-597592 Post-translational protein modification
R-HSA-162582 Signal Transduction
R-HSA-392499 Metabolism of proteins

-  Other Names for This Gene
  Alternate Gene Symbols: B1AMT5, D3DTF5, ENST00000371145.1, ENST00000371145.2, ENST00000371145.3, ENST00000371145.4, ENST00000371145.5, ENST00000371145.6, ENST00000371145.7, NM_001375372, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8, SA2, STAG2_HUMAN, uc318ixx.1, uc318ixx.2
UCSC ID: ENST00000371145.8_7
RefSeq Accession: NM_001042750.2
Protein: Q8N3U4 (aka STAG2_HUMAN or SA2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene STAG2:
hpe-overview (Holoprosencephaly Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.