Gene: SMARCD2

Alternate names for this Gene: BAF60B|CRACD2|PRO2451|Rsc6p|SGD2

Gene Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q23.3

Description of this Gene: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2

Type of Gene: protein-coding

rs2727280 in SMARCD2 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.