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Aliases for STAG3 Gene

Aliases for STAG3 Gene

  • Stromal Antigen 3 2 3 4 5
  • SCC3 Homolog 3 3 4
  • Stromalin-3 3 4

External Ids for STAG3 Gene

Previous GeneCards Identifiers for STAG3 Gene

  • GC07P098310
  • GC07P099372
  • GC07P099386
  • GC07P099419
  • GC07P099613
  • GC07P099775
  • GC07P094410

Summaries for STAG3 Gene

Entrez Gene Summary for STAG3 Gene

  • The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014]

GeneCards Summary for STAG3 Gene

STAG3 (Stromal Antigen 3) is a Protein Coding gene. Diseases associated with STAG3 include premature ovarian failure 8 and premature ovarian failure. Among its related pathways are Cell Cycle, Mitotic and Packaging Of Telomere Ends. GO annotations related to this gene include binding. An important paralog of this gene is STAG1.

UniProtKB/Swiss-Prot for STAG3 Gene

  • Meiosis specific component of cohesin complex. The cohesin complex is 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 meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STAG3 Gene

Genomics for STAG3 Gene

Regulatory Elements for STAG3 Gene

Promoters for STAG3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STAG3 on UCSC Golden Path with GeneCards custom track

Genomic Location for STAG3 Gene

Chromosome:
7
Start:
100,177,563 bp from pter
End:
100,221,488 bp from pter
Size:
43,926 bases
Orientation:
Plus strand

Genomic View for STAG3 Gene

Genes around STAG3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAG3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAG3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAG3 Gene

Proteins for STAG3 Gene

  • Protein details for STAG3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UJ98-STAG3_HUMAN
    Recommended name:
    Cohesin subunit SA-3
    Protein Accession:
    Q9UJ98
    Secondary Accessions:
    • A6H8Z1
    • B4DZ10
    • D6W5U8
    • H7BYK9
    • Q8NDP3

    Protein attributes for STAG3 Gene

    Size:
    1225 amino acids
    Molecular mass:
    139034 Da
    Quaternary structure:
    • Component of the meiosis-specific cohesin complex, which also contains the SMC1 (SMC1A or SMC1B) and SMC3 heterodimer. Such complex likely contains RAD21, or the meiosis-specific related protein REC8. Interacts with CCDC79/TERB1; recruiting cohesin to telomeres to develop structural rigidity (By similarity).

    Alternative splice isoforms for STAG3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAG3 Gene

Proteomics data for STAG3 Gene at MOPED

Post-translational modifications for STAG3 Gene

No data available for DME Specific Peptides for STAG3 Gene

Domains & Families for STAG3 Gene

Gene Families for STAG3 Gene

Protein Domains for STAG3 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for STAG3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UJ98

UniProtKB/Swiss-Prot:

STAG3_HUMAN :
  • Contains 1 SCD (stromalin conservative) domain.
  • Belongs to the SCC3 family.
Domain:
  • Contains 1 SCD (stromalin conservative) domain.
Family:
  • Belongs to the SCC3 family.
genes like me logo Genes that share domains with STAG3: view

Function for STAG3 Gene

Molecular function for STAG3 Gene

UniProtKB/Swiss-Prot Function:
Meiosis specific component of cohesin complex. The cohesin complex is 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 meiosis-specific cohesin complex probably replaces mitosis specific cohesin complex when it dissociates from chromatin during prophase I.
genes like me logo Genes that share phenotypes with STAG3: view

Human Phenotype Ontology for STAG3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STAG3 Gene

MGI Knock Outs for STAG3:

Animal Model Products

  • Taconic Biosciences Mouse Models for STAG3

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , miRNA , Transcription Factor Targets and HOMER Transcription for STAG3 Gene

Localization for STAG3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAG3 Gene

Nucleus. Chromosome. Chromosome, centromere. Note=Associates with chromatin. In prophase I stage of meiosis, it is found along the axial elements of synaptonemal complexes. In late-pachytene-diplotene, the bulk of protein dissociates from the chromosome arms probably because of phosphorylation by PLK1, except at centromeres, where cohesin complexes remain. It however remains chromatin associated at the centromeres up to metaphase I. During anaphase I, it probably dissociates from centromeres, allowing chromosomes segregation. {ECO:0000269 PubMed:12034751}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STAG3 Gene COMPARTMENTS Subcellular localization image for STAG3 gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 3
cytosol 1

Gene Ontology (GO) - Cellular Components for STAG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000775 chromosome, centromeric region IEA --
GO:0000795 synaptonemal complex IEA,TAS 10698974
GO:0000800 lateral element IEA --
GO:0001673 male germ cell nucleus IEA --
GO:0005634 nucleus TAS 10698974
genes like me logo Genes that share ontologies with STAG3: view

Pathways & Interactions for STAG3 Gene

genes like me logo Genes that share pathways with STAG3: view

Pathways by source for STAG3 Gene

3 Reactome pathways for STAG3 Gene
1 KEGG pathway for STAG3 Gene

Gene Ontology (GO) - Biological Process for STAG3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007130 synaptonemal complex assembly TAS 10698974
genes like me logo Genes that share ontologies with STAG3: view

No data available for SIGNOR curated interactions for STAG3 Gene

Drugs & Compounds for STAG3 Gene

No Compound Related Data Available

Transcripts for STAG3 Gene

Unigene Clusters for STAG3 Gene

Stromal antigen 3:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STAG3 Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: -
SP2:
SP3: - - - -
SP4: - - - - - - - - - - - - -
SP5: - - - -

Relevant External Links for STAG3 Gene

GeneLoc Exon Structure for
STAG3
ECgene alternative splicing isoforms for
STAG3

Expression for STAG3 Gene

mRNA expression in normal human tissues for STAG3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STAG3 Gene

This gene is overexpressed in Testis (x18.6).

Protein differential expression in normal tissues from HIPED for STAG3 Gene

This gene is overexpressed in Heart (42.4) and Ovary (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for STAG3 Gene



SOURCE GeneReport for Unigene cluster for STAG3 Gene Hs.592283

mRNA Expression by UniProt/SwissProt for STAG3 Gene

Q9UJ98-STAG3_HUMAN
Tissue specificity: Testis specific.
genes like me logo Genes that share expression patterns with STAG3: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for STAG3 Gene

Orthologs for STAG3 Gene

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

Orthologs for STAG3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia STAG3 35
  • 86.9 (n)
  • 86.27 (a)
STAG3 36
  • 82 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STAG3 35
  • 87.96 (n)
  • 86.83 (a)
STAG3 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stag3 35
  • 81.43 (n)
  • 78.85 (a)
Stag3 16
Stag3 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STAG3 35
  • 99.7 (n)
  • 99.43 (a)
STAG3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stag3 35
  • 81.11 (n)
  • 78.87 (a)
oppossum
(Monodelphis domestica)
Mammalia STAG3 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 76 (a)
OneToMany
-- 36
  • 29 (a)
OneToMany
-- 36
  • 59 (a)
OneToMany
chicken
(Gallus gallus)
Aves STAG3 36
  • 39 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia STAG3 36
  • 55 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii STAG3 36
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta SA 37
  • 42 (a)
SA 36
  • 39 (a)
ManyToMany
SA-2 36
  • 22 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea scc-3 36
  • 31 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes IRR1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for STAG3:
  • A. gosspyii yeast (Ashbya 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for STAG3 Gene

ENSEMBL:
Gene Tree for STAG3 (if available)
TreeFam:
Gene Tree for STAG3 (if available)

Paralogs for STAG3 Gene

Paralogs for STAG3 Gene

genes like me logo Genes that share paralogs with STAG3: view

Variants for STAG3 Gene

Sequence variations from dbSNP and Humsavar for STAG3 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs2056726 -- 100,182,660(+) CAAGC(A/G)TTAAT intron-variant, upstream-variant-2KB
rs2141160 -- 100,187,081(+) GGCTA(G/T)AGTGC intron-variant
rs2272339 -- 100,180,568(+) TCCCC(A/G)TTGCA reference, synonymous-codon
rs2272340 -- 100,180,569(+) CCCCG(C/T)TGCAA reference, synonymous-codon
rs2272341 -- 100,180,574(+) TTGCA(A/G)AGAGC reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for STAG3 Gene

Variant ID Type Subtype PubMed ID
esv2734888 CNV Deletion 23290073
nsv428180 CNV Gain 18775914
nsv5867 CNV Loss 18451855
nsv8182 CNV Gain 18304495
nsv888774 CNV Gain 21882294
esv26986 CNV Gain 19812545

Variation tolerance for STAG3 Gene

Residual Variation Intolerance Score: 4.41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.29; 62.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STAG3 Gene

HapMap Linkage Disequilibrium report
STAG3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAG3 Gene

Disorders for STAG3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for STAG3 Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
premature ovarian failure 8
  • pof8
premature ovarian failure
  • premature menopause
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search STAG3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STAG3_HUMAN
  • Premature ovarian failure 8 (POF8) [MIM:615723]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269 PubMed:24597867, ECO:0000303 PubMed:22428046}. Note=The disease is caused by mutations affecting the gene represented in this entry. A homozygous deletion in STAG3 predicted to result in frameshift and premature truncation, has been shown to be the cause of premature ovarian failure in a large consanguineous family. {ECO:0000269 PubMed:24597867}.

Relevant External Links for STAG3

Genetic Association Database (GAD)
STAG3
Human Genome Epidemiology (HuGE) Navigator
STAG3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STAG3
genes like me logo Genes that share disorders with STAG3: view

No data available for Genatlas for STAG3 Gene

Publications for STAG3 Gene

  1. STAG3, a novel gene encoding a protein involved in meiotic chromosome pairing and location of STAG3-related genes flanking the Williams- Beuren syndrome deletion. (PMID: 10698974) Pezzi N. … Barbero J.L. (FASEB J. 2000) 2 3 4 23 67
  2. Mutant cohesin in premature ovarian failure. (PMID: 24597867) Caburet S. … Vilain E. (N. Engl. J. Med. 2014) 3
  3. Comparison of tear protein levels in breast cancer patients and healthy controls using a de novo proteomic approach. (PMID: 22664934) BAPhm D. … Grus F.H. (Oncol. Rep. 2012) 3
  4. Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer. (PMID: 20635389) Notaridou M. … Ramus S.J. (Int. J. Cancer 2011) 3
  5. RAD21L, a novel cohesin subunit implicated in linking homologous chromosomes in mammalian meiosis. (PMID: 21242291) Lee J. … Hirano T. (J. Cell Biol. 2011) 3

Products for STAG3 Gene

Sources for STAG3 Gene

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