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FLASH GENE
Symbol SLC6A4 contributors: mct - updated : 18-05-2016
HGNC name solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
HGNC id 11050
ASSOCIATED DISORDERS
corresponding disease(s)
Susceptibility
  • to sudden infant death
  • a possible association to bipolar affective disorder and personality traits in a primarily female population sample
  • susceptibility gene for high cholesterol and heart disease
  • susceptibility to major depression, to attention deficit hyperactivity disorder, to autism and rigid-compulsive behaviors
  • to obsessive-compulsive disorder(OCD)
  • Variant & Polymorphism other
  • some evidence of allelic variation modulating anxiety-related traits
  • promoter polymorphism increasing the risk of sudden infant death (L/L)
  • L(A) allele was twofold overtransmitted to the patients with OCD
  • a 44-bp insertion/deletion polymorphism in the upstream regulatory region (5-HTTLPR) and a VNTR polymorphism in the second intron (Stin2) increasing the risk of SIDS
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    psychiatryautism 
    major therapeutic target in autism
    psychiatrybipolar disorder 
    common targets of drugs extensively used for the treatment of multiple different pathologies, ranging from anorexia, depression, anxiety and other psychiatric as well as neurological disorders to gastrointestinal and uro-genital dysfunctions
    ANIMAL & CELL MODELS
  • Sert(-/-) rats show decreased brain-derived neurotrophic factor (Bdnf) expression, as well as reduced levels of transcription factor regulating the neurotrophin transcription