GC (GC vitamin D binding protein)

2007-02-01  

Identity

HGNC
LOCATION
4q13.3
LOCUSID
ALIAS
DBP,DBP-maf,DBP/GC,GRD3,Gc-MAF,GcMAF,HEL-S-51,VDB,VDBG,VDBP
FUSION GENES

Other Information

Locus ID:

NCBI: 2638
MIM: 139200
HGNC: 4187
Ensembl: ENSG00000145321

Variants:

dbSNP: 2638
ClinVar: 2638
TCGA: ENSG00000145321
COSMIC: GC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145321ENST00000273951P02774
ENSG00000145321ENST00000504199P02774
ENSG00000145321ENST00000506245D6RF20
ENSG00000145321ENST00000509740D6RBJ7
ENSG00000145321ENST00000513476D6RF35

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900
1000

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Vitamin D (calciferol) metabolismREACTOMER-HSA-196791
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of fat-soluble vitaminsREACTOMER-HSA-6806667

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10040cetuximabChemicalVariantAnnotationassociatedPD29208668
PA130232992bevacizumabChemicalVariantAnnotationassociatedPD29208668
PA164760843deferasiroxChemicalClinicalAnnotationassociatedPD30651574
PA166123207overall survivalDiseaseVariantAnnotationassociatedPD29208668
PA445058Neoplasm MetastasisDiseaseVariantAnnotationassociatedPD29208668
PA446108Colorectal NeoplasmsDiseaseVariantAnnotationassociatedPD29208668
PA446432beta-ThalassemiaDiseaseClinicalAnnotationassociatedPD30651574

References

Pubmed IDYearTitleCitations
205412522010Common genetic determinants of vitamin D insufficiency: a genome-wide association study.465
204184852010Genome-wide association study of circulating vitamin D levels.264
204184852010Genome-wide association study of circulating vitamin D levels.264
214165062011Vitamin D-binding protein modifies the vitamin D-bone mineral density relationship.127
185937742008Genetic and environmental determinants of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels in Hispanic and African Americans.96
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203633242010A systematic review of the association between common single nucleotide polymorphisms and 25-hydroxyvitamin D concentrations.71
192550642009Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk.70
193029992009Common genetic variants of the vitamin D binding protein (DBP) predict differences in response of serum 25-hydroxyvitamin D [25(OH)D] to vitamin D supplementation.66
191163212009Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women.64

Citation

Dessen P

GC (GC vitamin D binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45713/gc