Gene: EHMT2-AS1

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Gene: EHMT2

Alternate names for this Gene: BAT8|C6orf30|G9A|GAT8|KMT1C|NG36

Gene Summary: This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: euchromatic histone lysine methyltransferase 2

Type of Gene: protein-coding

Gene: LOC107986588

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Gene: CYP21A2

Alternate names for this Gene: CA21H|CAH1|CPS1|CYP21|CYP21B|P450c21B

Gene Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: cytochrome P450 family 21 subfamily A member 2

Type of Gene: protein-coding

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Diabetes Mellitus, Insulin-Dependent PMID 17632545 2007 A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Drug-induced neutropenia PMID 27157822 2016 Three SNPs were strongly associated with antithyroid drug-induced agranulocytosis: rs652888 (OR 4·73, 95% CI 3·00-7·44, p=1·92 × 10(-11)) and rs199564443 (17·42, 7·38-41·12, p=7·04 × 10(-11)), which were independent of HLA-B*27:05, and rs1071816 (5·27, 3·06-9·10, p=2·35 × 10(-9)) which was in moderate linkage disequilibrium with HLA-B*27:05.

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Epstein-Barr Virus Infections PMID 23326239 2013 A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Hepatitis B PMID 23760081 2013 A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Hepatitis B, Chronic PMID 25802187 2015 Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B.

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Mean Corpuscular Volume (result) PMID 23303382 2013 Genome-wide association study of serum albumin:globulin ratio in Korean populations.

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Membranous glomerulonephritis PMID 21323541 2011 Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.

rs652888 in EHMT2-AS1;EHMT2;LOC107986588;CYP21A2 gene and Rheumatoid Arthritis PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

PMID 21156761 2011 A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis.

PMID 19503088 2009 REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.