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FLASH GENE
Symbol CXCR4 contributors: mct/pgu - updated : 12-09-2016
HGNC name chemokine (C-X-C motif) receptor 4
HGNC id 2561
ASSOCIATED DISORDERS
corresponding disease(s) WHIM
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in breast cancer cells, malignant breast tumor and metastases
tumoral     --over  
in metastatic renal clear cell carcinoma
constitutional     --other  
aberrantly expressed in pathological specimens of vitreoretinal membranes
tumoral     --over  
in melanoma cells in primary lesions, significantly associated with the presence of ulceration, increased tumor thickness, a greater risk of developing regional and distant metastases and a higher mortality rate
constitutional       loss of function
enhances osteoclastogenesis, and may enhance established skeletal tumor burden by increasing osteoclasts activity
constitutional     --over  
with CXCL12 in patients with heart failure
constitutional       gain of function
CXCR4 activation, by promoting the differentiation of oligodendrocyte precursor cells into oligodendrocytes, is critical for remyelination of the injured adult CNS
tumoral     --over  
significantly associated with lymph node status and distant metastasis and indicated poor overall and disease free survival
Susceptibility to leukocyte telomere length
Variant & Polymorphism SNP rs4452212 associated with variation of leukocyte telomere length
Candidate gene
  • use of CXCR4 inhibitors, particularly in patients with bone metastases
  • presence of functional CXCR4 on cardiac myocytes introduces a new target for treating cardiac dysfunction
  • useful prognostic factor for patients with metastatic prostate cancer treated with androgen-withdrawal therapy
  • Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneoushypertension 
    CXCR4 and ACKR3 as new pharmacological targets to control vasoreactivity and blood pressure
    ANIMAL & CELL MODELS
  • diminished Cxcr4 alters interneuron migration in Large Deletion (LgDel) 22q11.2DS mice