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: DNAH2

Alternate names for this Gene: DNAHC2|DNHD3|SPGF45

Gene Summary: Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. The axonemal dyneins, found in cilia and flagella, are components of the outer and inner dynein arms attached to the peripheral microtubule doublets. DNAH2 is an axonemal inner arm dynein heavy chain (Chapelin et al., 1997 [PubMed 9256245]).[supplied by OMIM, Mar 2008].

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: dynein axonemal heavy chain 2

Type of Gene: protein-coding

Gene: LOC105371516

Alternate names for this Gene:

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rs12945870 in KDM6B;DNAH2;LOC105371516 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs12945870 in KDM6B;DNAH2;LOC105371516 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.