GC (GC vitamin D binding protein)

2007-02-01  

Identity

HGNC
GC
LOCATION
4q13.3
LOCUSID
2638
ALIAS
DBP,DBP-maf,DBP/GC,GRD3,Gc-MAF,GcMAF,HEL-S-51,VDB,VDBG,VDBP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

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

References

Pubmed IDYearTitleCitations
387325232024Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms.1
390684752024Association of rs4588 polymorphism in vitamin D binding protein gene with polycystic ovarian syndrome in Iranian women: a case-control study.0
387325232024Relationship between Vitamin D3 Deficiency, Metabolic Syndrome and VDR, GC, and CYP2R1 Gene Polymorphisms.1
390684752024Association of rs4588 polymorphism in vitamin D binding protein gene with polycystic ovarian syndrome in Iranian women: a case-control study.0
371755342023Investigation of the Changes in Concentrations of Vitamin D-Binding Protein and Lactoferin in Plasma and Peritoneal Fluid of Patients with Endometriosis.3
374079302023Vitamin D receptor and vitamin D binding protein gene polymorphisms in patients with asthma: a pilot study.2
374944572023Association of functional, inherited vitamin D-binding protein variants with melanoma-specific death.0
375537992023Vitamin D receptor and binding protein genes variants in patients with migraine.1
375878242023Sex-Specific Variations in Vitamin D and Vitamin D Binding Protein (Vdbp) and Flipped Pattern of their Association in Preeclamptic Women with Dyslipidemia.0
378142862023Association of rs2282679 polymorphism in vitamin D binding protein gene (GC) with the risk of vitamin D deficiency in an iranian population: season-specific vitamin D status.0
378886132023The role of free vitamin D and vitamin D binding protein in SARS-Cov-2 infection in children.0
378988382023Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer.0
379290212023Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait.1
379298562023Association between the genetic variant in the vitamin D pathway (rs2282679), circulating 25-hydroxyvitamin D levels, insulin resistance and metabolic syndrome criteria.0
380665592023Vitamin D receptor rs3782905 and vitamin D binding protein rs7041 polymorphisms are associated with hepatocellular carcinoma susceptibility in cirrhotic HCV patients.0

Citation

Dessen P

GC (GC vitamin D binding protein)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

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