ARID1B 6:157099063-157531913

Forward strand gene: AT-rich interaction domain 1B

Also known as: ENSG00000049618, KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5

Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromatin structure by altering DNA-histone contacts within a nucleosome in an ATP-dependent manner. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a postmitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to postmitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). Binds DNA non-specifically (PubMed:14982958, PubMed:15170388). Source: UniProt

DECIPHER holds 74 sequence variants in this gene, in 74 open-access patients

Name RefSeq Location Size Type Protein Exons
ARID1B-009 (ENST00000350026) NM_017519
431.22 kb protein_coding 2236aa 19
ARID1B-001 (ENST00000346085) NM_020732
432.85 kb canonical protein_coding 2249aa 20
ARID1B-202 (ENST00000367148)
431.34 kb protein_coding 2289aa 20
ARID1B-201 (ENST00000275248)
431.32 kb protein_coding 2231aa 20
ARID1B-005 (ENST00000414678)
429.83 kb protein_coding 1758aa 19
ARID1B-008 (ENST00000494260)
41.16 kb processed_transcript 2
ARID1B-004 (ENST00000319584)
285.25 kb protein_coding 728aa 12
ARID1B-002 (ENST00000452544)
216.93 kb retained_intron 5
ARID1B-007 (ENST00000493658)
26.39 kb retained_intron 2
ARID1B-003 (ENST00000478761)
32.41 kb processed_transcript 6
ARID1B-006 (ENST00000400790)
37.70 kb protein_coding 273aa 5