Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SOX30 contributors: mct - updated : 18-04-2020
HGNC name SRY (sex determining region Y)-box 30
HGNC id 30635
Location 5q33.3      Physical location : 157.052.686 - 157.079.428
Synonym name
  • SRY related HMG box gene 30
  • Sox30 protein type II
  • transcription factor SOX-30
  • DNA
    TYPE functioning gene
    STRUCTURE 45.80 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 splicing 2787 - 501 - 2018 29880037
  • h125-15, type II
  • truncated form
  • 6 - 2177 - 448 - 2018 29880037
    5 - 3283 - 753 - 2018 29880037
  • h125-13/17, Type I
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • DNA binding protein with a high mobility group (HMG) domain
  • HOMOLOGY
    interspecies ortholog to murine Sox30
    Homologene
    FAMILY
  • SRY-related HMG box family of transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • modulator of LINE retroposons promoter activity
  • potentially involved in differentiation of male germ cells
  • SOX30 acts as a master switch of desmosomal genes (DSC3, DSP, JUP), inhibits lung adenocarcinoma cell proliferation, migration and invasion by activating the transcription of desmosomal genes
  • as a crucial transcription factor that controls the transition from a late meiotic to a postmeiotic gene expression program and subsequent round spermatid development
  • antagonizes tumor metastasis by preventing EMT process that can be used to predict survival
  • key role of SOX30/WNT/CTNNB1 axis in the progression of acute myeloid leukemia
  • CELLULAR PROCESS cell life, differentiation
    nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text spermatogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the 5'-ACAAT-3' sequence and preferentially for guanine residues surrounding this core motif
    RNA
    small molecule
    protein
  • is a novel epigenetic silenced tumor suppressor acting through direct regulation of TP53 transcription and expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in acute myeloid leukemia (AML)
    constitutional       loss of function
    uniquely impairs spermatogenesis, probably causing Non-obstructive azoospermia (NOA) disease
    tumoral     --low  
    by SOX30 methylation correlated with disease progression in chronic myeloid leukemia
    tumoral     --over  
    in ovarian cancer tissues and is associated with clinical stage and metastasis of ovarian cancer patients
    constitutional       loss of function
    results in a complete arrest of spermatogenesis at the onset of spermiogenesis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • prognostic biomarker and chemotherapeutic indicator for advanced-stage ovarian cancer
  • acted as an independent prognostic and predictive biomarker in AML
  • Therapy target
    ANIMAL & CELL MODELS
  • deletion of Sox30 in mice uniquely impairs testis development and spermatogenesis with complete absence of spermatozoa in testes leading to male infertility, but does not influence ovary development and female fertility
  • Sox30 expression is under the control of DNA methylation status, and this expression pattern is associated with testis development in mice