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FLASH GENE

Symbol

ARID1B

contributors: mct/npt/pgu - updated : 10-10-2017

HGNC name	AT rich interactive domain 1B (SWI1-like)
HGNC id	18040

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL6Q25 , CSSSA1B , MRD12

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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