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Gene Symbol |
GC |
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Aliases |
DBP, DBP-maf, DBP/GC, GRD3, Gc-MAF, GcMAF, HEL-S-51, VDB, VDBG, VDBP |
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Entrez Gene ID |
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Gene Name |
GC vitamin D binding protein |
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Chromosomal Location |
4q13.3 |
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HGNC ID |
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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.[provided by RefSeq, Feb 2011]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Vitamin D-binding protein, epididymis secretory protein Li 51, gc protein-derived macrophage activating factor, gc-globulin, group-specific component (vitamin D binding protein), vitamin D-binding alpha-globulin, vitamin D-binding protein-macrophage activating factor |
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Function |
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Involved in vitamin D transport and storage, scavenging of extracellular G-actin, enhancement of the chemotactic activity of C5 alpha for neutrophils in inflammation and macrophage activation. |
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UniProt |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000261195 |
P54840 |
P54840 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Digestive System Diseases |
| Liver Diseases |
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| Liver Failure |
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| Liver Fibrosis |
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| Liver Cirrhosis |
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| Hepatitis |
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| Endocrine System Diseases |
| PCOS |
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| Immune System Diseases |
| Rheumatoid Arthritis |
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| Graves Disease |
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| Neoplasms |
| Lung Cancer |
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| Multiple Sclerosis |
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| Nutritional and Metabolic Diseases |
| Vitamin D Deficiency |
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| Osteopenia |
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| Metabolic Bone Disorder |
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| Liver Failure |
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| Hepatic Encephalopathy |
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| Psychiatric/Brain disorders |
| Schizophrenia |
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| Renal Disorder |
| Kidney Failure |
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| Kidney Insufficiency |
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References |
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Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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CYP2R1 |
PCOS, anovulation, insulin resistance, hyperinsulinemia and type 2 diabetes
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Rotterdam criteria |
Related
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50 PCOS women and 50 normal women recruited from the Department of Obstetrics and Gynaecology, Vardhman Mahavir Medical College and Safdarjang Hospital (New Delhi, India) |
The present study shows that the GT allele of VDBP SNP rs7041, the VDBP allelic combination (GC1F/1F), and GA allele of CYP2R1 SNP rs2060793 in vitamin D deficient women increase the risk of PCOS. |
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VDR |
PCOS, chronic anovulation, manifestations of hyperandrogenism, insulin resistance, obesity, and metabolic syndrome |
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Rotterdam criteria |
Related
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191 PCOS women and 100 control women from South of Brazil |
The present study is the first to describe that genotype TT of SNP rs7041 is associated with MetS in PCOS and with lower 25(OH)D levels in both PCOS and healthy controls with regular ovulatory cycles. The polymorphisms rs2282679, rs4588, and rs7041 of the DBP gene, as well as their haplotypes, are not related to PCOS in southern Brazilian women |
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