Gene: CYP8B1

Alternate names for this Gene: CP8B|CYP12

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 endoplasmic reticulum membrane protein catalyzes the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these two steroids determines the relative amounts of cholic acid and chenodeoxycholic acid both of which are secreted in the bile and affect the solubility of cholesterol. This gene is unique among the cytochrome P450 genes in that it is intronless.

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.1

Description of this Gene: cytochrome P450 family 8 subfamily B member 1

Type of Gene: protein-coding

Gene: KRBOX1

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ACKR2

Alternate names for this Gene: CCBP2|CCR10|CCR9|CMKBR9|D6|hD6

Gene Summary: This gene encodes a beta chemokine receptor, which is predicted to be a seven transmembrane protein similar to G protein-coupled receptors. Chemokines and their receptor-mediated signal transduction are critical for the recruitment of effector immune cells to the inflammation site. This gene is expressed in a range of tissues and hemopoietic cells. The expression of this receptor in lymphatic endothelial cells and overexpression in vascular tumors suggested its function in chemokine-driven recirculation of leukocytes and possible chemokine effects on the development and growth of vascular tumors. This receptor appears to bind the majority of beta-chemokine family members; however, its specific function remains unknown. This gene is mapped to chromosome 3p21.3, a region that includes a cluster of chemokine receptor genes.

Gene is located in Chromosome: 3

Location in Chromosome : 3p22.1

Description of this Gene: atypical chemokine receptor 2

Type of Gene: protein-coding

rs2228467 in CYP8B1;KRBOX1;ACKR2 gene and Alzheimer's Disease PMID 25340798 2014 Genome-wide association study of CSF levels of 59 alzheimer's disease candidate proteins: significant associations with proteins involved in amyloid processing and inflammation.

rs2228467 in CYP8B1;KRBOX1;ACKR2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs2228467 in CYP8B1;KRBOX1;ACKR2 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2228467 in CYP8B1;KRBOX1;ACKR2 gene and Chemokine (C-C Motif) Ligand 19 Measurement PMID 30134952 2018 Cross-genetic determination of maternal and neonatal immune mediators during pregnancy.

rs2228467 in CYP8B1;KRBOX1;ACKR2 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2228467 in CYP8B1;KRBOX1;ACKR2 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 23314186 2013 Genetic variation associated with circulating monocyte count in the eMERGE Network.

rs2228467 in CYP8B1;KRBOX1;ACKR2 gene and Monocyte count result PMID 23314186 2013 Genetic variation associated with circulating monocyte count in the eMERGE Network.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2228467 in CYP8B1;KRBOX1;ACKR2 gene and Protein measurement PMID 30134952 2018 Cross-genetic determination of maternal and neonatal immune mediators during pregnancy.

rs4682868 in CYP8B1;KRBOX1;ACKR2 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.