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FLASH GENE
Symbol STAG3 contributors: mct - updated : 30-09-2020
HGNC name stromal antigen 3
HGNC id 11356
Corresponding disease
POF8 premature ovarian failure 8
SPGF61 spermatogenic failure 61
Location 7q22.1      Physical location : 99.775.537 - 99.812.010
Synonym name
  • stromalin 3
  • cohesin subunit SA-3
  • SCC3 homolog
    • DNA
    TYPE functioning gene
    STRUCTURE 41.77 kb     34 Exon(s)    3 Copie(s)
    10 Kb 5' upstream gene genomic sequence study
    text structure two related sequences STAG3L at 7q22, four in the WBS critical region (see STAG3l)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    34 - 4313 - 1225 - 2018 29724914
    34 - 4199 - 1226 - 2018 29724914
    34 - 4196 - 1225 - 2018 29724914
    34 - 4166 - 1226 - 2018 29724914
    32 - 3989 - 1167 - 2018 29724914
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymph node   highly
     tonsils   highly
    Nervousnervecranial nerve  highly
    Reproductivemale systemtestis  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    life cycle division
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		specific stromalin conservative domain (SCD)
    HOMOLOGY
    Homologene
    FAMILY
  • stromalin family
  • SCC3 family
    • CATEGORY adhesion , antigen
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,nucleus,chromatin/chromosome
    text synaptonemal complex
    basic FUNCTION
  • chromosome pairing and maintenance of synaptonemal complex structure during the pachytene phase of meiosis
  • meiosis-specific cohesin subunits, forming complexes involved in the maintenance of sister chromatid cohesion during division of somatic and germ cells with a sexual dimorphism in sister chromatid cohesion in meiosis
  • dynamics of cohesins REC8, STAG3, SMC1B and SMC3 suggest their participation in sister chromatid cohesion throughout the whole meiotic process in human oocytes
  • meiosis-specific subunit of the cohesin complex, a large proteinaceous ring with DNA-entrapping ability that ensures sister chromatid cohesion and enables correct synapsis and segregation of homologous chromosomes during meiosis
  • STAG3 emerges as the key STAG cohesin involved in major functions of meiotic cohesin
  • STAG3 is required for structural changes of chromosomes that mediate chromosome pairing and synapsis, DNA repair and progression of meiosis
  • is a novel regulator of microtubule dynamics to ensure euploidy during mouse oocyte meiotic maturation
  • STAG3 is a stromalin subunit common to all meiosis-specific cohesin complexes
  • encodes for a meiosis-specific protein that is crucial for the functionality of meiotic cohesin complexes
    • CELLULAR PROCESS cell cycle,division,meiosis
    nucleotide, chromatin organization
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • STAG3-REC8 cohesin complexes have a critical role in supporting meiotic chromosome structure and functions
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PRDM9 interacts with STAG3 and REC8 in cooperative relationships that promote normal levels of meiotic DSBs at recombination hotspots in spermatocytes
  • PHB in spermatocytes regulates the expression of STAG3, a key component of the meiotic cohesin complex, via a non-canonical JAK/STAT pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) POF8 , SPGF61
    Susceptibility to male infertility
    Variant & Polymorphism other
  • two compound-heterozygous variants in STAG3 (c.[1262T>G];[1312C>T], p.[(Leu421Arg)];[(Arg438Ter)]) have been found to cause male infertility due to complete bilateral meiotic arrest in an otherwise healthy human male
    • Candidate gene
  • STAG3 is a strong candidate gene for human male infertility
    • Marker
    Therapy target
    ANIMAL & CELL MODELS