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: SLC44A4

Alternate names for this Gene: C6orf29|CTL4|DFNA72|NG22|TPPT|hTPPT1

Gene Summary: The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three 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: solute carrier family 44 member 4

Type of Gene: protein-coding

rs2763981 in CYP21A2;SLC44A4 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs577272 in CYP21A2;SLC44A4 gene and C-reactive protein measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs501942 in CYP21A2;SLC44A4 gene and Carcinoma of lung PMID 28604730 2017 Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes.

rs9267653 in CYP21A2;SLC44A4 gene and Forced expiratory volume function PMID 26423011 2015 Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank.

rs2763981 in CYP21A2;SLC44A4 gene and Iron binding capacity total measurement PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs2763981 in CYP21A2;SLC44A4 gene and Low density lipoprotein cholesterol measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs2242665 in CYP21A2;SLC44A4 gene and Lupus Erythematosus, Systemic PMID 24871463 2014 GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

rs2242665 in CYP21A2;SLC44A4 gene and Multiple Sclerosis PMID 20598377 2010 Evidence for VAV2 and ZNF433 as susceptibility genes for multiple sclerosis.

rs2242665 in CYP21A2;SLC44A4 gene and Rheumatoid Arthritis PMID 17804836 2007 TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study.

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

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

rs9267655 in CYP21A2;SLC44A4 gene and Sarcoidosis PMID 22952805 2012 Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility.

rs577272 in CYP21A2;SLC44A4 gene and Serum total cholesterol measurement PMID 27286809 2016 Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.

rs2763981 in CYP21A2;SLC44A4 gene and Total iron binding capacity function PMID 28334935 2017 Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

rs2763981 in CYP21A2;SLC44A4 gene and Triglycerides measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 30670697 2019 Multi-ancestry study of blood lipid levels identifies four loci interacting with physical activity.

rs2736428 in CYP21A2;SLC44A4 gene and Ulcerative Colitis PMID 24837172 2015 Genome-wide association scan in north Indians reveals three novel HLA-independent risk loci for ulcerative colitis.