Group-Specific Component

Alternative Names

  • GC
  • Vitamin D-Binding Protein
  • DBP
  • VDBP
  • Vitamin D-Binding Alpha-Globulin
  • VDBG
Back to search Result
OMIM Number

139200

NCBI Gene ID

2638

Uniprot ID

P02774

Length

63,828 bases

No. of Exons

15

No. of isoforms

3

Protein Name

Vitamin D-binding protein

Molecular Mass

52918 Da

Amino Acid Count

474

Genomic Location

chr4:71,741,692-71,805,519

Gene Map Locus
4q13.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinical SignificanceCondition(s)HGVS ExpressionsdbSNPClinvar
GC*1S NM_000583.4:c.[1296T>G;1307=]LebanonNC_000004.12:g.[71752617A>C;71752606=]Uncertain SignificanceNG_012837.3:g.[57904T>G;57915=]; NM_000583.4:c.[1296T>G;1307=]; NP_000574.2:p.[Asp432Glu;Thr436=]7041 4588
GC∗1F NM_000583.4:c.[1296=;1307=]LebanonNC_000004.12:g.[71752617=;71752606=]Uncertain SignificanceNG_012837.3:g.[57904=;57915=]; NM_000583.4:c.[1296=;1307=]; NP_000574.2:p.[Asp432=;Thr436=]7041 4588
GC∗2 NM_000583.4:c.[1296=;1307C>A]LebanonNC_000004.12:g.[71752617=;71752606G>T]Uncertain SignificanceNG_012837.3:g.[57904=;57915C>A]; NM_000583.4:c.[1296=;1307C>A]; NP_000574.2:p.[Asp432=;Thr436Lys]7041 4588
GC∗3 NM_000583.4:c.[1296T>G;1307C>A]LebanonNC_000004.12:g.[71752617A>C;71752606G>T]Uncertain SignificanceNG_012837.3:g.[57904T>G;57915C>A]; NM_000583.4:c.[1296T>G;1307C>A]; NP_000574.2:p.[Asp432Glu;Thr436Lys]7041 4588
© CAGS 2021. All rights reserved.