Gene: NSD3

Alternate names for this Gene: KMT3F|KMT3G|WHISTLE|WHSC1L1|pp14328

Gene Summary: This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described.

Gene is located in Chromosome: 8

Location in Chromosome : 8p11.23

Description of this Gene: nuclear receptor binding SET domain protein 3

Type of Gene: protein-coding

rs12674515 in NSD3 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12674515 in NSD3 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10156310 in NSD3 gene and Schizophrenia PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

rs11785041 in NSD3 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.