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 differen... See more...

Aliases for STAG2 Gene

Aliases for STAG2 Gene

  • Stromal Antigen 2 2 3 4 5
  • SA2 2 3 4
  • Cohesin Subunit SA-2 3 4
  • SCC3 Homolog 2 3 4
  • SCC3B 2 3
  • SA-2 2 3
  • BA517O1.1 3
  • NEDXCF 3
  • HPE13 3
  • STAG2 5
  • MKMS 3

External Ids for STAG2 Gene

Previous GeneCards Identifiers for STAG2 Gene

  • GC0XP117813
  • GC0XP120049
  • GC0XP121046
  • GC0XP121793
  • GC0XP122821
  • GC0XP122922
  • GC0XP123094
  • GC0XP112478

Summaries for STAG2 Gene

Entrez Gene Summary for STAG2 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 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]

CIViC Summary for STAG2 Gene

GeneCards Summary for STAG2 Gene

STAG2 (Stromal Antigen 2) is a Protein Coding gene. Diseases associated with STAG2 include Mullegama-Klein-Martinez Syndrome and Holoprosencephaly 13, X-Linked. Among its related pathways are CDK-mediated phosphorylation and removal of Cdc6 and Cell Cycle, Mitotic. Gene Ontology (GO) annotations related to this gene include chromatin binding and binding. An important paralog of this gene is STAG1.

UniProtKB/Swiss-Prot Summary for STAG2 Gene

  • 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.

Gene Wiki entry for STAG2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAG2 Gene

Genomics for STAG2 Gene

GeneHancer (GH) Regulatory Elements Pubs


GeneHancers around STAG2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAG2

Top Transcription factor binding sites by QIAGEN in the STAG2 gene promoter:
  • GATA-3
  • SRF
  • SRF (504 AA)

Genomic Locations for STAG2 Gene

Latest Assembly
chrX:123,960,212-124,422,664
(GRCh38/hg38)
Size:
462,453 bases
Orientation:
Plus strand

Previous Assembly
chrX:123,094,410-123,236,506
(GRCh37/hg19 by Entrez Gene)
Size:
142,097 bases
Orientation:
Plus strand

chrX:123,094,062-123,556,514
(GRCh37/hg19 by Ensembl)
Size:
462,453 bases
Orientation:
Plus strand

Genomic View for STAG2 Gene

Genes around STAG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAG2 Gene

Proteins for STAG2 Gene

  • Protein details for STAG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3U4-STAG2_HUMAN
    Recommended name:
    Cohesin subunit SA-2
    Protein Accession:
    Q8N3U4
    Secondary Accessions:
    • B1AMT5
    • D3DTF5
    • O00540
    • Q5JTI6
    • Q68DE9
    • Q9H1N8

    Protein attributes for STAG2 Gene

    Size:
    1231 amino acids
    Molecular mass:
    141326 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=CAA99732.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for STAG2 Gene

    Alternative splice isoforms for STAG2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAG2 Gene

Post-translational modifications for STAG2 Gene

  • Phosphorylated by PLK1. The large dissociation of cohesin from chromosome arms during prophase is partly due to its phosphorylation (By similarity).
  • Ubiquitination at Lys363, Lys449, Lys607, Lys622, and Lys664
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for STAG2 Gene

Domains & Families for STAG2 Gene

Gene Families for STAG2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for STAG2 Gene

InterPro:
Blocks:
  • STAG

Suggested Antigen Peptide Sequences for STAG2 Gene

GenScript: Design optimal peptide antigens:
  • Stromal antigen 2 (STAG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N3U4

UniProtKB/Swiss-Prot:

STAG2_HUMAN :
  • Belongs to the SCC3 family.
Family:
  • Belongs to the SCC3 family.
genes like me logo Genes that share domains with STAG2: view

Function for STAG2 Gene

Molecular function for STAG2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for STAG2 Gene

Gene Ontology (GO) - Molecular Function for STAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IBA 21873635
GO:0005515 protein binding IPI 15737063
genes like me logo Genes that share ontologies with STAG2: view
genes like me logo Genes that share phenotypes with STAG2: view

Human Phenotype Ontology for STAG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAG2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for STAG2 Gene

Localization for STAG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAG2 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STAG2 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for STAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region TAS --
GO:0000785 chromatin IDA 16682347
GO:0005634 nucleus IBA,TAS 9305759
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome TAS --
genes like me logo Genes that share ontologies with STAG2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STAG2 Gene

Pathways & Interactions for STAG2 Gene

genes like me logo Genes that share pathways with STAG2: view

Pathways by source for STAG2 Gene

1 BioSystems pathway for STAG2 Gene
1 KEGG pathway for STAG2 Gene
1 GeneGo (Thomson Reuters) pathway for STAG2 Gene
  • Cell cycle_Spindle assembly and chromosome separation
1 Qiagen pathway for STAG2 Gene
  • Mitotic Roles of Polo Like Kinases
2 Cell Signaling Technology pathways for STAG2 Gene

SIGNOR curated interactions for STAG2 Gene

Activates:

Gene Ontology (GO) - Biological Process for STAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007049 cell cycle IEA --
GO:0007059 chromosome segregation IEA --
GO:0007062 sister chromatid cohesion IBA,IMP 15917200
GO:0051301 cell division IEA --
GO:0051321 meiotic cell cycle IEA --
genes like me logo Genes that share ontologies with STAG2: view

Drugs & Compounds for STAG2 Gene

No Compound Related Data Available

Transcripts for STAG2 Gene

mRNA/cDNA for STAG2 Gene

17 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAG2

Alternative Splicing Database (ASD) splice patterns (SP) for STAG2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:
SP4:

ExUns: 27 ^ 28 ^ 29a · 29b ^ 30a · 30b ^ 31 ^ 32a · 32b ^ 33a · 33b ^ 34a · 34b
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for STAG2 Gene

GeneLoc Exon Structure for
STAG2

Expression for STAG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STAG2 Gene

Protein differential expression in normal tissues from HIPED for STAG2 Gene

This gene is overexpressed in Blymphocyte (8.4), Lymph node (8.2), Cerebrospinal fluid (7.2), Fetal gut (7.1), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STAG2 Gene



Protein tissue co-expression partners for STAG2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STAG2

SOURCE GeneReport for Unigene cluster for STAG2 Gene:

Hs.496710

Evidence on tissue expression from TISSUES for STAG2 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Eye(4.3)
  • Bone marrow(2.7)
  • Blood(2.6)
  • Skin(2.6)
  • Spleen(2.5)
  • Lymph node(2.5)
  • Thyroid gland(2.4)
  • Kidney(2.4)
  • Intestine(2.4)
  • Muscle(2.4)
  • Lung(2.2)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with STAG2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for STAG2 Gene

Orthologs for STAG2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for STAG2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STAG2 30
  • 100 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia STAG2 30
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia STAG2 30
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia STAG2 29 30
  • 96.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia STAG2 29 30
  • 96.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Stag2 29
  • 94.21 (n)
Mouse
(Mus musculus)
Mammalia Stag2 29 16 30
  • 93.91 (n)
OneToOne
Chicken
(Gallus gallus)
Aves STAG2 29 30
  • 85.79 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia STAG2 30
  • 95 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia stag1 29
  • 80.98 (n)
Str.15852 29
Zebrafish
(Danio rerio)
Actinopterygii stag2a 30
  • 78 (a)
OneToMany
stag2b 29 30
  • 74.3 (n)
OneToMany
Dr.4818 29
Fruit Fly
(Drosophila melanogaster)
Insecta SA 30 31
  • 43 (a)
ManyToMany
SA-2 30
  • 24 (a)
ManyToMany
CG13916 31
  • 23 (a)
Worm
(Caenorhabditis elegans)
Secernentea scc-3 29 30
  • 47.16 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IRR1 30
  • 17 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 47 (a)
OneToMany
Species where no ortholog for STAG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for STAG2 Gene

ENSEMBL:
Gene Tree for STAG2 (if available)
TreeFam:
Gene Tree for STAG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STAG2: view image
Alliance of Genome Resources:
Additional Orthologs for STAG2

Paralogs for STAG2 Gene

Paralogs for STAG2 Gene

(12) SIMAP similar genes for STAG2 Gene using alignment to 10 proteins:

  • STAG2_HUMAN
  • B1AMS8_HUMAN
  • B1AMS9_HUMAN
  • B1AMT0_HUMAN
  • B1AMT1_HUMAN
  • B1AMT2_HUMAN
  • B1AMT3_HUMAN
  • B1AMT4_HUMAN
  • E7ERE6_HUMAN
  • F8WAK8_HUMAN
genes like me logo Genes that share paralogs with STAG2: view

Variants for STAG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAG2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1031012 Uncertain Significance: Mullegama-Klein-Martinez syndrome 124,022,632(+) T/C
NM_001042750.2(STAG2):c.5T>C (p.Ile2Thr)
MISSENSE
1031013 Uncertain Significance: Mullegama-Klein-Martinez syndrome 124,045,319(+) A/G
NM_001042750.2(STAG2):c.618A>G (p.Gly206=)
SYNONYMOUS
864831 Pathogenic: Holoprosencephaly 13, x-linked 124,083,530(+) C/T
NM_001042750.2(STAG2):c.3034C>T (p.Arg1012Ter)
NONSENSE
864832 Pathogenic: Holoprosencephaly 13, x-linked 124,042,619(+) C/T
NM_001042750.2(STAG2):c.436C>T (p.Arg146Ter)
NONSENSE
871637 Uncertain Significance: not provided 124,057,937(+) A/G
NM_001042750.2(STAG2):c.1376A>G (p.Asn459Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STAG2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for STAG2 Gene

Variant ID Type Subtype PubMed ID
esv2758890 CNV gain 17122850
esv3427436 CNV insertion 20981092
esv3574516 CNV loss 25503493
nsv438155 CNV loss 16468122
nsv953694 CNV duplication 24416366

Variation tolerance for STAG2 Gene

Residual Variation Intolerance Score: 2.66% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.32; 7.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STAG2 Gene

Human Gene Mutation Database (HGMD)
STAG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAG2
Leiden Open Variation Database (LOVD)
STAG2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAG2 Gene

Disorders for STAG2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for STAG2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search STAG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STAG2_HUMAN
  • Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022]: An X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger. {ECO:0000269 PubMed:28296084, ECO:0000269 PubMed:29263825, ECO:0000269 PubMed:30158690, ECO:0000269 PubMed:30447054, ECO:0000269 PubMed:30765867}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Holoprosencephaly 13, X-linked (HPE13) [MIM:301043]: An X-linked form of holoprosencephaly, a structural anomaly of the brain in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability. HPE13 features range from full alobar holoprosencephaly with cyclopia to semilobar holoprosencephaly or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. {ECO:0000269 PubMed:30765867, ECO:0000269 PubMed:31334757}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for STAG2

genes like me logo Genes that share disorders with STAG2: view

No data available for Genatlas for STAG2 Gene

Publications for STAG2 Gene

  1. Cohesin complex-associated holoprosencephaly. (PMID: 31334757) Kruszka P … Muenke M (Brain : a journal of neurology 2019) 3 4 72
  2. De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. (PMID: 28296084) Mullegama SV … Martinez-Agosto JA (American journal of medical genetics. Part A 2017) 3 4 72
  3. SA-1, a nuclear protein encoded by one member of a novel gene family: molecular cloning and detection in hemopoietic organs. (PMID: 9305759) Carramolino L … Zipori D (Gene 1997) 2 3 4
  4. Familial STAG2 germline mutation defines a new human cohesinopathy. (PMID: 29263825) Soardi FC … Pena SDJ (NPJ genomic medicine 2017) 3 4
  5. Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy. (PMID: 25677961) Leroy C … Malan V (Clinical genetics 2016) 3 72

Products for STAG2 Gene

Sources for STAG2 Gene