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STAG2 stromal antigen 2 [ Homo sapiens (human) ]

Gene ID: 10735, updated on 1-Jun-2020

Summary

Official Symbol
STAG2provided by HGNC
Official Full Name
stromal antigen 2provided by HGNC
Primary source
HGNC:HGNC:11355
See related
Ensembl:ENSG00000101972 MIM:300826
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

Genomic context

See STAG2 in Genome Data Viewer
Location:
Xq25
Exon count:
39
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (123960560..124102656)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (123094475..123236506)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene par-6 family cell polarity regulator beta pseudogene Neighboring gene RNA, U6 small nuclear 122, pseudogene Neighboring gene X-linked inhibitor of apoptosis Neighboring gene uncharacterized LOC101928402 Neighboring gene zinc finger protein interacting with K protein 1 pseudogene 1 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 20

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25871, DKFZp686P168, DKFZp781H1753

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
cohesin subunit SA-2
Names
SCC3 homolog 2

NCBI Reference Sequences (RefSeq)

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/Swiss-Prot
    Q8N3U4
    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/Swiss-Prot
    Q8N3U4
    Related
    ENSP00000360187.3, ENST00000371145.7
    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
    Q8N3U4
    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
    Q8N3U4
    UniProtKB/TrEMBL
    Q6AI02, Q6MZM3
    Related
    ENSP00000360202.1, ENST00000371160.5
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  5. NM_001375375.1NP_001362304.1  cohesin subunit SA-2 isoform b

    Status: REVIEWED

    Source sequence(s)
    AL121601, AL355476
  6. 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
    Q8N3U4
    Related
    ENSP00000360199.3, ENST00000371157.7
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005262357.3XP_005262414.1  cohesin subunit SA-2 isoform X1

    See identical proteins and their annotated locations for XP_005262414.1

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  2. XM_005262361.2XP_005262418.1  cohesin subunit SA-2 isoform X2

    See identical proteins and their annotated locations for XP_005262418.1

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  3. XM_017029235.1XP_016884724.1  cohesin subunit SA-2 isoform X3

    Conserved Domains (1) summary
    pfam08514
    Location:88196
    STAG; STAG domain
  4. XM_024452326.1XP_024308094.1  cohesin subunit SA-2 isoform X1

    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  5. XM_024452329.1XP_024308097.1  cohesin subunit SA-2 isoform X2

  6. XM_024452327.1XP_024308095.1  cohesin subunit SA-2 isoform X1

    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  7. XM_006724727.1XP_006724790.1  cohesin subunit SA-2 isoform X1

    See identical proteins and their annotated locations for XP_006724790.1

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  8. XM_024452328.1XP_024308096.1  cohesin subunit SA-2 isoform X2

  9. XM_005262358.2XP_005262415.1  cohesin subunit SA-2 isoform X1

    See identical proteins and their annotated locations for XP_005262415.1

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  10. XM_011531253.2XP_011529555.1  cohesin subunit SA-2 isoform X1

    See identical proteins and their annotated locations for XP_011529555.1

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  11. XM_017029232.1XP_016884721.1  cohesin subunit SA-2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  12. XM_005262359.4XP_005262416.1  cohesin subunit SA-2 isoform X1

    See identical proteins and their annotated locations for XP_005262416.1

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  13. XM_006724728.4XP_006724791.1  cohesin subunit SA-2 isoform X3

    See identical proteins and their annotated locations for XP_006724791.1

    Conserved Domains (1) summary
    pfam08514
    Location:88196
    STAG; STAG domain
  14. XM_005262360.2XP_005262417.1  cohesin subunit SA-2 isoform X1

    See identical proteins and their annotated locations for XP_005262417.1

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
  15. XM_017029233.1XP_016884722.1  cohesin subunit SA-2 isoform X2

    UniProtKB/Swiss-Prot
    Q8N3U4
    Conserved Domains (1) summary
    pfam08514
    Location:157265
    STAG; STAG domain
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