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FLASH GENE
Symbol ARID1B contributors: mct/npt/pgu - updated : 10-10-2015
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
Variant & Polymorphism
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