Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol SOHLH2 contributors: mct - updated : 23-03-2021
HGNC name spermatogenesis and oogenesis specific basic helix-loop-helix 2
HGNC id 26026
Location 13q13.3      Physical location : 36.742.346 - 36.788.752
Synonym name
  • spermatogenesis associated 28
  • testicular secretory protein Li 50
  • testicular secretory protein Li 51
  • Synonym symbol(s) SOSF2, SPATA28, TEB1, bHLHe81, FLJ20449, FLJ57222
    DNA
    TYPE functioning gene
    STRUCTURE 46.34 kb     11 Exon(s)
    regulatory sequence Promoter
    cytosine-phosphate-guanine/HTF
    text structure
  • dynamic DNA CpG methylation in the SOHLH2 and FIGLA promoters, but not in the intron and exon sequences, is linked to the regulation of gene expressions, even though CpG islands are also present in their introns or exons
  • MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    11 - 2125 - 425 - 2019 30720232
    7 - 1865 - 225 - 2019 30720232
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivefemale systemovary    Homo sapiens
     male systemtestis    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    ReproductiveLeydig cell Homo sapiens
    Reproductiveoocyte Homo sapiens
    ReproductiveSertoli cell Homo sapiens
    Reproductivespermatogonia Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY basic helix-loop-helix (bhlh) transcription factors family
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • it may be a critical regulator of early germ cell development
  • SOHLH2 is a critical factor for maintenance and differentiation of the oocyte during early oogenesis
  • SOHLH2 might coordinate with SOHLH1 to control spermatogonial and oocyte genes, including SOHLH1, to promote the differentiation of KIT(+) germ cells
  • SOHLH1 and SOHLH2, encode basic helix-loop-helix (bHLH) transcriptional regulators that are essential in spermatogonial differentiation
  • SOHLH1 and SOHLH2 suppress genes involved in spermatogonial stem cells (SSCs) maintenance, and induce genes important for spermatogonial differentiation
  • FIGLA, LHX8, NOBOX, SOHLH1, and SOHLH2 transcriptional regulators are critical for formation and maintenance of follicles
  • SOHLH1 and SOHLH2 are essential regulators of oocyte differentiation but do not affect meiosis I
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component SOHLH2 and SOHLH1 can form a heterodimer
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • SOHLH2 and SOHLH1 synergistically upregulate the SOHLH1 gene through E-boxes upstream of the SOHLH1 promoter
  • SOHLH1 and SOHLH2 directly down-regulate STRA8
  • likely functions as a tumor suppressor in breast cancer that is mediated by repressing WNT/CTNNB1 signaling pathway via upregulation of APC expression
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to non-obstructive azoospermia (NOA)
  • to spermatogenic failure
  • Variant & Polymorphism other
  • polymorphisms rs1328626 and rs6563386 of the SOHLH2 gene would be the genetic risk factors for NOA in the Chinese population
  • intronic variation of SOHLH2 is associated with spermatogenic failure
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Sohlh2-knockout adult female mice are infertile due to lack of ovarian follicles