Gene: C2
Alternate names for this Gene: ARMD14|CO2
Gene Summary: Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.33
Description of this Gene: complement C2
Type of Gene: protein-coding
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
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