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FLASH GENE
Symbol ARID1B contributors: mct/npt/pgu - updated : 10-10-2016
HGNC name AT rich interactive domain 1B (SWI1-like)
HGNC id 18040
ASSOCIATED DISORDERS
corresponding disease(s) DEL6Q25 , CSSSA1B , MRD12
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   deletion   dominant negative
haploinsufficiency of ARID1B, is a common cause of intellectual disability (,
constitutional       loss of function
leads to elevated Wnt/CTNNB1-dependent transcription of target genes
tumoral     --low  
in pancreatic cancer (PaCa) tissue, especially in samples from advanced-stage tumours, when compared with normal pancreas
Susceptibility to hypoesthesia
Variant & Polymorphism other
  • associations between genetic polymorphisms located in the flanking region of the ARID1B and ZPLD1 genes and hypoesthesia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    BAF250b-deficient mouse embryonic stem cells have been characterized and found to exhibit defects in self-renewal capacity and increased differentiation