SWI/SNF complex in disorder

Figures & data

Table 1. The main subunits of the SWI/SNF complex and their function (based on refs. 2 and 5)

Official gene name	Alternative name	Putative function
SMARCA2 or SMARCA4	BRG1 hBRM	Performs ATP hydrolysis, binds acetylated histones, regulates transcription and acts as a tumor suppressor.^2^,^5
ARID1A or ARID1B or ARID2	BAF250a BAF250b BAF200	Performs DNA target recognition, involved in protein-protein interactions, regulates transcription and acts as a tumor suppressor.^2^,^5
SMARCB1	BAF47/hSNF5	Regulates transcription, acts as a tumor suppressor.^2^,^5
SMARCE1	BAF57	Regulates transcription,^40 acts as a tumor suppressor^32
SMARCC1 and/or SMARCC2	BAF155 BAF170	Stabilizes the SWI/SNF complex,^41 acts as a tumor suppressor^42
SMARCD1 or SMARCD2 or SMARCD3	BAF60a BAF60b BAF60c	Acts as a tumor suppressor^21

There are many different combinations of subunits possible to form the SWI/SNF complex. The first column indicates if the subunits are mutually exclusive (such as SMARCA2/SMARCA4) or can occur together in the complex (such as SMARCC1/SMARCC2).

Table 2. Comparison of the different mutations identified in malignancies and in intellectual disability

Subunit	Mutations related to malignancies	Germline/somatic	Mutations related to intellectual disability	Germline/somatic	Domains with missense mutations in patients with intellectual disability^28^,^43	Expression pattern^44
ARID1A	Truncating/missense^23^,^45^-^47	Somatic	Truncating^18	Germline		Ubiquitous
ARID1B	Truncating^21	Somatic	Truncating^16^-^18	Germline		Many tissues*
SMARCA2	-	-	Missense^16^-^18	Germline	Helicase ATP-binding (SNF2), helicase C-terminal,	Ubiquitous
SMARCA4	Truncating^10^,^31 Missense^27	Germline Somatic	Missense^18	Germline	Helicase ATP-binding (SNF2), helicase C-terminal, helicase/SANT-associated (HAS)	Ubiquitous
SMARCE1	Truncating^32	Somatic (bi-allelic), one case.	Missense^18	Germline	Binding of alternative DNA conformations (HMG)	Ubiquitous
SMARCB1	Truncating/missense^10^,^26^,^30	Germline and somatic	missense^18	Germline	Promoter targeting and chromatin remodeling activity (SNF5)	Ubiquitous

* Thymus, bone marrow, spleen, brain, spinal cord, heart, skeletal muscle, kidney, lung, liver, pancreas and prostate.

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