Gene: KDM6B

Alternate names for this Gene: JMJD3|NEDCFSA

Gene Summary: The protein encoded by this gene is a lysine-specific demethylase that specifically demethylates di- or tri-methylated lysine 27 of histone H3 (H3K27me2 or H3K27me3). H3K27 trimethylation is a repressive epigenetic mark controlling chromatin organization and gene silencing. This protein can also demethylate non-histone proteins such as retinoblastoma protein. Through its demethylation actvity this gene influences cellular differentiation and development, tumorigenesis, inflammatory diseases, and neurodegenerative diseases. This protein has two classical nuclear localization signals at its N-terminus. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: lysine demethylase 6B

Type of Gene: protein-coding

Gene: LOC107987244

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rs12939056 in KDM6B;LOC107987244 gene and Body Height PMID 29782485 2018 Evaluation and application of summary statistic imputation to discover new height-associated loci.

rs12939056 in KDM6B;LOC107987244 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.