Gene: GC

Alternate names for this Gene: DBP|DBP-maf|DBP/GC|GRD3|Gc-MAF|GcMAF|HEL-S-51|VDB|VDBG|VDBP

Gene Summary: The protein encoded by this gene belongs to the albumin gene family. It is a multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid and on the surface of many cell types. It binds to vitamin D and its plasma metabolites and transports them to target tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 4

Location in Chromosome : 4q13.3

Description of this Gene: GC vitamin D binding protein

Type of Gene: protein-coding

rs7041 in GC gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1352846 in GC 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.

rs1352846 in GC gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs1352846 in GC gene and Granulocyte count PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs705119 in GC gene and Memory performance PMID 28800603 2017 Genetic variants specific to aging-related verbal memory: Insights from GWASs in a population-based cohort.

rs1352846 in GC gene and Neutrophil count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2282679 in GC gene and Vitamin D Deficiency PMID 20541252 2010 Common genetic determinants of vitamin D insufficiency: a genome-wide association study.

rs1155563 in GC gene and Vitamin D measurement PMID 25208829 2014 Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.

PMID 20418485 2010 Genome-wide association study of circulating vitamin D levels.

PMID 22673963 2012 Genome-wide association analysis of circulating vitamin D levels in children with asthma.

PMID 29343764 2018 Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

PMID 29325163 2018 Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.

PMID 29545823 2018 These were located in or near <i>GC</i>, the vitamin D binding protein, or <i>CYP2R1</i>, a cytochrome P450 enzyme that hydroxylates vitamin D to form 25(OH)D. The top hit was rs4588, a missense <i>GC</i> polymorphism associated with a 3.5 ng/mL decrease in 25(OH)D per copy of the minor allele (95% confidence interval [CI]: -4.1, -3.0; <i>p</i> = 4.5 × 10<sup>-38</sup>).

PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

rs1155563 in GC gene and Vitamin D3 measurement PMID 25208829 2014 Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.

PMID 20418485 2010 Genome-wide association study of circulating vitamin D levels.

PMID 22673963 2012 Genome-wide association analysis of circulating vitamin D levels in children with asthma.

PMID 29343764 2018 Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels.

PMID 29325163 2018 Transethnic Evaluation Identifies Low-Frequency Loci Associated With 25-Hydroxyvitamin D Concentrations.

PMID 28757204 2017 Low-Frequency Synonymous Coding Variation in CYP2R1 Has Large Effects on Vitamin D Levels and Risk of Multiple Sclerosis.

PMID 29545823 2018 Genome-Wide Association Study of Serum 25-Hydroxyvitamin D in US Women.

rs11723621 in GC gene and White Blood Cell Count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.