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FLASH GENE
Symbol SOX5 contributors: shn/pgu - updated : 20-03-2019
HGNC name SRY (sex determining region Y)-box 5
HGNC id 11201
ASSOCIATED DISORDERS
corresponding disease(s) LAMSHF
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   amplification    
coamplified with DADR and EKI1 in testicular seminoma
tumoral     --over  
in breast cancer tissues compared with adjacent healthy tissues, and overexpression of SOX5 was associated with a reduced overall survival rate in patients with breast cancer
Susceptibility
Variant & Polymorphism
Candidate gene
  • novel candidate gene for late-onset familial Alzheimer disease (LOAD with an important role in neuronal function
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerreproductivebreast
    candidate therapeutic target in breast cancer progression
    cancerdigestiveliver
    may be a potential therapeutic target for HCC metastasis
    ANIMAL & CELL MODELS
  • Sox6 single null mice are born with mild skeletal abnormalities
  • Sox5-Sox6 double null fetuses die with a severe, generalized chondrodysplasia
  • silencing of the Drosophila ortholog of Sox5 leads to abnormal neuronal development and behavioral impairment