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    STAG2 STAG2 cohesin complex component [ Homo sapiens (human) ]

    Gene ID: 10735, updated on 7-Apr-2024

    Summary

    Official Symbol
    STAG2provided by HGNC
    Official Full Name
    STAG2 cohesin complex componentprovided by HGNC
    Primary source
    HGNC:HGNC:11355
    See related
    Ensembl:ENSG00000101972 MIM:300826; AllianceGenome:HGNC:11355
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SA2; MKMS; SA-2; HPE13; SCC3B; NEDXCF; bA517O1.1
    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]
    Expression
    Ubiquitous expression in thyroid (RPKM 24.4), bone marrow (RPKM 22.3) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    Xq25
    Exon count:
    40
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (123960560..124102656)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (122270973..122413073)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (123094410..123236506)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 122, pseudogene Neighboring gene X-linked inhibitor of apoptosis Neighboring gene PARD6B pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chrX:123057919-123058420 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:123093522-123094437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29912 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29913 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29914 Neighboring gene STAG2 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:123120781-123120983 Neighboring gene MPRA-validated peak7422 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:123261133-123261790 Neighboring gene small nucleolar RNA U13 Neighboring gene zinc finger protein interacting with K protein 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Holoprosencephaly 13, X-linked
    MedGen: C5393308 OMIM: 301043 GeneReviews: Not available
    Compare labs
    Mullegama-Klein-Martinez syndrome
    MedGen: C5193008 OMIM: 301022 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2023-01-25)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2023-01-25)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ25871, DKFZp686P168, DKFZp781H1753

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of mitotic sister chromatid cohesion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in meiotic cell cycle IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in mitotic spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sister chromatid cohesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in sister chromatid cohesion IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chromatin IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of chromatin IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in chromosome TAS
    Traceable Author Statement
    more info
     
    located_in chromosome, centromeric region TAS
    Traceable Author Statement
    more info
     
    part_of cohesin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of cohesin complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of cohesin complex IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in fibrillar center IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    part_of mitotic cohesin complex IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nuclear matrix IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    cohesin subunit SA-2
    Names
    SA2 stromalin
    SCC3 homolog 2
    sister chromatid cohesion 3 homolog B
    stromal antigen 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033796.2 RefSeqGene

      Range
      5001..147097
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_782

    mRNA and Protein(s)

    1. NM_001042749.2NP_001036214.1  cohesin subunit SA-2 isoform a

      See identical proteins and their annotated locations for NP_001036214.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AL831939, BC001765, BQ425643, BX640970, CF136218, DA534452
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Related
      ENSP00000218089.9, ENST00000218089.13
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    2. NM_001042750.2NP_001036215.1  cohesin subunit SA-2 isoform a

      See identical proteins and their annotated locations for NP_001036215.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
      Source sequence(s)
      AA428995, BC001765, BC017095, CB250478, CR749433, DA214149
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Related
      ENSP00000360187.4, ENST00000371145.8
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    3. NM_001042751.2NP_001036216.1  cohesin subunit SA-2 isoform b

      See identical proteins and their annotated locations for NP_001036216.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR and lacks an in-frame coding exon compared to variant 1. The resulting isoform (b) is shorter, lacking an internal protein segment, compared to isoform a. Variants 3, 4 and 5 encode the same isoform.
      Source sequence(s)
      AA428995, BC001765, BC017095, BX641003, CB250478, DA214149
      Consensus CDS
      CCDS14607.1
      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Related
      ENSP00000360186.3, ENST00000371144.7
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    4. NM_001282418.2NP_001269347.1  cohesin subunit SA-2 isoform b

      See identical proteins and their annotated locations for NP_001269347.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR and lacks an in-frame coding exon compared to variant 1. The resulting isoform (b) is shorter, lacking an internal protein segment, compared to isoform a. Variants 3, 4 and 5 encode the same isoform.
      Source sequence(s)
      AL831939, BX641003, CF136218, CR627425, DB225303
      Consensus CDS
      CCDS14607.1
      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Related
      ENSP00000360202.1, ENST00000371160.5
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    5. NM_001375366.1NP_001362295.1  cohesin subunit SA-2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    6. NM_001375367.1NP_001362296.1  cohesin subunit SA-2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    7. NM_001375368.1NP_001362297.1  cohesin subunit SA-2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    8. NM_001375369.1NP_001362298.1  cohesin subunit SA-2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    9. NM_001375370.1NP_001362299.1  cohesin subunit SA-2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    10. NM_001375371.1NP_001362300.1  cohesin subunit SA-2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Related
      ENST00000691035.1
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    11. NM_001375372.1NP_001362301.1  cohesin subunit SA-2 isoform a

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS43990.1
      UniProtKB/TrEMBL
      Q6MZP3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    12. NM_001375373.1NP_001362302.1  cohesin subunit SA-2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS14607.1
      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Related
      ENSP00000397265.2, ENST00000455404.6
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    13. NM_001375374.1NP_001362303.1  cohesin subunit SA-2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS14607.1
      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    14. NM_001375375.1NP_001362304.1  cohesin subunit SA-2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS14607.1
      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    15. NM_001375376.1NP_001362305.1  cohesin subunit SA-2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS14607.1
      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    16. NM_001375377.1NP_001362306.1  cohesin subunit SA-2 isoform b

      Status: REVIEWED

      Source sequence(s)
      AL121601, AL355476
      Consensus CDS
      CCDS14607.1
      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    17. NM_006603.5NP_006594.3  cohesin subunit SA-2 isoform b

      See identical proteins and their annotated locations for NP_006594.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and lacks an in-frame coding exon compared to variant 1. The resulting isoform (b) is shorter, lacking an internal protein segment, compared to isoform a. Variants 3, 4 and 5 encode the same isoform.
      Source sequence(s)
      AA428995, AK026678, BC001765, BC017095, DA214149
      Consensus CDS
      CCDS14607.1
      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Related
      ENSP00000360199.3, ENST00000371157.7
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      123960560..124102656
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441783.1XP_047297739.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    2. XM_047441784.1XP_047297740.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    3. XM_047441777.1XP_047297733.1  cohesin subunit SA-2 isoform X1

    4. XM_047441782.1XP_047297738.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    5. XM_047441776.1XP_047297732.1  cohesin subunit SA-2 isoform X1

    6. XM_047441781.1XP_047297737.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    7. XM_006724727.2XP_006724790.1  cohesin subunit SA-2 isoform X1

      See identical proteins and their annotated locations for XP_006724790.1

      UniProtKB/TrEMBL
      Q6MZP3
      Related
      ENSP00000509048.1, ENST00000687852.1
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    8. XM_024452328.2XP_024308096.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
      UniProtKB/TrEMBL
      Q6MZM3
      Conserved Domains (1) summary
      pfam08514
      Location:157265
      STAG; STAG domain
    9. XM_047441775.1XP_047297731.1  cohesin subunit SA-2 isoform X1

    10. XM_047441780.1XP_047297736.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    11. XM_047441778.1XP_047297734.1  cohesin subunit SA-2 isoform X1

    12. XM_047441785.1XP_047297741.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    13. XM_047441779.1XP_047297735.1  cohesin subunit SA-2 isoform X1

    14. XM_047441786.1XP_047297742.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    15. XM_047441787.1XP_047297743.1  cohesin subunit SA-2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      122270973..122413073
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326389.1XP_054182364.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    2. XM_054326390.1XP_054182365.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    3. XM_054326382.1XP_054182357.1  cohesin subunit SA-2 isoform X1

    4. XM_054326388.1XP_054182363.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    5. XM_054326381.1XP_054182356.1  cohesin subunit SA-2 isoform X1

    6. XM_054326387.1XP_054182362.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    7. XM_054326380.1XP_054182355.1  cohesin subunit SA-2 isoform X1

    8. XM_054326386.1XP_054182361.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    9. XM_054326379.1XP_054182354.1  cohesin subunit SA-2 isoform X1

    10. XM_054326385.1XP_054182360.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    11. XM_054326391.1XP_054182366.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    12. XM_054326383.1XP_054182358.1  cohesin subunit SA-2 isoform X1

    13. XM_054326384.1XP_054182359.1  cohesin subunit SA-2 isoform X1

    14. XM_054326392.1XP_054182367.1  cohesin subunit SA-2 isoform X2

      UniProtKB/Swiss-Prot
      B1AMT5, D3DTF5, O00540, Q5JTI6, Q68DE9, Q8N3U4, Q9H1N8
    15. XM_054326393.1XP_054182368.1  cohesin subunit SA-2 isoform X3