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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
Location Xp22.31      Physical location : 8.993.038 - 9.001.116
Synonym name
  • protein FAM9B
  • testis expressed 39B
  • Synonym symbol(s) FLJ40182, TEX39B
    DNA
    TYPE functioning gene
    STRUCTURE 9.90 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    9 - 2103 - 186 - 2016 26871637
    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