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FLASH GENE
Symbol FAM9B contributors: mct - updated : 31-05-2023
HGNC name family with sequence similarity 9, member B
HGNC id 18404
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivemale systemtestis    Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductivespermatocyte Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
three overlapping bipartite nuclear localization signal
HOMOLOGY
intraspecies homolog to FAM9C
homolog to SYCP3
Homologene
FAMILY FAM9 family
CATEGORY DNA associated
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,lysosome
intracellular,nucleus,nucleoplasm
text
  • FAM9B was found in the nuclei of primary spermatocytes in testes and specifically localized in the synaptonemal complex (SC) region of spermatocytes
  • basic FUNCTION
  • is a potential novel X-linked genetic modulator of cardiovascular malformations (CVM) risk
  • may play an important role in synaptonemal complex (SC) formation and DNA recombination during meiosis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to variation of testosterone level
    Variant & Polymorphism SNP
  • rs5934505 was the most significant SNP at Xp22 associated with serum T levels
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS