SMARCA2

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2

3 disorders 2 untyped 1 causative 9p24.3 gene with protein product

HGNC:11098 Monarch NCBI Gene 6595 ENSG00000080503 UniProt P51531 OMIM 600014

Previous symbols: SNF2L2. Aliases: BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Nicolaides-Baraitser Syndrome	causative de novo	mechanism: Non-Truncating SMARCA2 Variants Clustered in the ATPase Region
Blepharophimosis-Impaired Intellectual Development Syndrome	untyped	animal model: mouse (Mus musculus)
Coffin-Siris syndrome	untyped Causative	mechanism: BAF/SWI-SNF chromatin remodeling dysfunction

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
intellectual disability-sparse hair-brachydactyly syndrome MONDO:0011053	AD	Definitive 2020-08-18	Nicolaides-Baraitser Syndrome causative

Mechanism modules · computed from kb/

epigenetic_machinery_neurodevelopmental_dysregulation via Coffin-Siris syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.