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Symbol CAMTA1 contributors: mct - updated : 01-03-2017
HGNC name calmodulin binding transcription activator 1
HGNC id 18806
corresponding disease(s) CANPMR
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral fusion      
WWTR1-CAMTA1 fusion in all epithelioid hemangioendothelioma tested from bone, soft tissue, and visceral location (liver, lung) in keeping with a unique and specific pathological entity
tumoral     --low  
independent predictor of poor outcome in neuroblastoma patients
tumoral   translocation    
with TFE3 in Epithelioid hemangioendotheliomas
  • to coronary artery disease (CAD) and periodontitis
  • to Sporadic Amyotrophic Lateral Sclerosis
  • Variant & Polymorphism other
  • risk alleles in the genes CDKN2B-AS1, CAMTA1 and PLG that are shared between coronary artery disease (CAD) and periodontitis
  • rs2412208 associated with longer survival
  • Candidate gene
  • presence of WWTR1-CAMTA1 fusion may serve as a useful molecular diagnostic tool in challenging diagnoses
  • nuclear CAMTA1 expression is sensitive and highly specific for epithelioid haemangioendothelioma (EHE) and can be applied to diagnostic immunohistochemistry in epithelioid tumours
  • Therapy target
  • global or nervous system deletion of Camta1 in mice causes severe ataxia with Purkinje cell degeneration and cerebellar atrophy, partially resembling the consequences of haploinsufficiency of the human Camta1 locus