Gene: SMARCD3

Alternate names for this Gene: BAF60C|CRACD3|Rsc6p

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. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined.

Gene is located in Chromosome: 7

Location in Chromosome : 7q36.1

Description of this Gene: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3

Type of Gene: protein-coding

rs73169678 in SMARCD3 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs7781265 in SMARCD3 gene and Multiple Myeloma PMID 27363682 2016 Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.

rs79419269 in SMARCD3 gene and Primary amyloidosis PMID 28025584 2017 Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma.

rs73169678 in SMARCD3 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.