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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
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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