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    GC group-specific component (vitamin D binding protein) [ Homo sapiens ]

    Gene ID: 2638, updated on 20-May-2012
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    Summary

    Official Symbol
    GCprovided by HGNC
    Official Full Name
    group-specific component (vitamin D binding protein)provided by HGNC
    Primary source
    HGNC:4187
    See related
    Ensembl:ENSG00000145321; HPRD:00749; MIM:139200; Vega:OTTHUMG00000129915
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    DBP; GRD3; VDBG; VDBP; DBP/GC
    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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    Genomic context

    Location :
    4q12-q13
    Sequence :
    Chromosome: 4; NC_000004.11 (72607410..72671237, complement)
    See GC in Epigenomics, MapViewer

    Chromosome 4 - NC_000004.11Genomic Context describing neighboring genes Neighboring gene deoxycytidine kinase Neighboring gene solute carrier family 4, sodium bicarbonate cotransporter, member 4 Neighboring gene lactate dehydrogenase A-like 6B pseudogene Neighboring gene neuropeptide FF receptor 2 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif, 3

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Impact of circulating vitamin D binding protein levels on the association between 25-hydroxyvitamin D and pancreatic cancer risk: a nested case-control study. Weinstein SJ, et al. Cancer Res, 2012 Mar 1. PMID 22232734.
    2. Urinary vitamin D-binding protein is elevated in patients with endometriosis. Cho S, et al. Hum Reprod, 2012 Feb. PMID 22158084.
    3. Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans. Lu L, et al. Hum Genet, 2012 Mar. PMID 21972121.
    4. Associations of vitamin d binding protein gene polymorphisms with the development of peripheral arthritis and uveitis in ankylosing spondylitis. Jung KH, et al. J Rheumatol, 2011 Oct. PMID 21844150.
    5. Association of a common vitamin D-binding protein polymorphism with inflammatory bowel disease. Eloranta JJ, et al. Pharmacogenet Genomics, 2011 Sep. PMID 21832969.

    See all (134) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. excretion of VDBP: Data suggest that urinary VDBP levels are elevated in patients with endometriosis; however, urinary VDBP levels appear to have limited potential as diagnostic biomarker for endometriosis.
      Title: Urinary vitamin D-binding protein is elevated in patients with endometriosis.
    2. our findings indicate that higher DBP concentrations may sequester more 25(OH)D and reduce free 25(OH)D bioavailability
      Title: Impact of circulating vitamin D binding protein levels on the association between 25-hydroxyvitamin D and pancreatic cancer risk: a nested case-control study.
    3. In conclusion, GC and NADSYN1/DHCR7 loci individually and collectively contribute to variation in plasma vitamin D levels in Chinese Hans.
      Title: Associations between common variants in GC and DHCR7/NADSYN1 and vitamin D concentration in Chinese Hans.
    4. Findings fail to directly connect vitamin D metabolism gene VDBP polymorphisms to multiple sclerosis susceptibility in Canadians.
      Title: Vitamin D metabolic pathway genes and risk of multiple sclerosis in Canadians.
    5. DBP gene polymorphisms are associated with the development of peripheral arthritis and uveitis in Korean patients with ankylosing spondylitis.
      Title: Associations of vitamin d binding protein gene polymorphisms with the development of peripheral arthritis and uveitis in ankylosing spondylitis.
    6. Vitamin D intake was also significantly predictive of serum 25(OHD) concentrations, and similarly to what was observed for the GC polymorphisms, the relative strength of the association was influenced by ancestry and season
      Title: Association of vitamin D binding protein (VDBP) polymorphisms and serum 25(OH)D concentrations in a sample of young Canadian adults of different ancestry.
    7. [review] A growing body of evidence in this review supports a role for vitamin D in the etiology of multiple sclerosis.
      Title: The emerging role of vitamin D binding protein in multiple sclerosis.
    8. DBP 420 variant Lys is less frequent in inflammatory bowel disease (IBD) cases than in non-IBD controls and adds DBP to the list of potential genes that contribute to the complex genetic etiology of IBD.
      Title: Association of a common vitamin D-binding protein polymorphism with inflammatory bowel disease.
    9. The variants in GC gene, which give rise to the two most common electrophoretic isoforms of the vitamin D binding protein, were associated with asthma susceptibility.
      Title: Vitamin D binding protein variants associate with asthma susceptibility in the Chinese Han population.
    10. Free and bioavailable 25-hydroxyvitamin D (25(OH)D), calculated from total 25(OH)D, DBP, and serum albumin levels, would be more strongly associated with bone mineral density than levels of total 25(OH)D.
      Title: Vitamin D-binding protein modifies the vitamin D-bone mineral density relationship.
    Submit: New GeneRIF Correction See all (68)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    Common genetic determinants of vitamin D insufficiency: a genome-wide association study.

    Genome-wide association study of circulating vitamin D levels.

    Graves disease, susceptibility to, 3

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P02774 P68133 ACTA1    HPRD  PubMed  
    P02774 P62736 ACTA2    HPRD  PubMed  
    P02774 P68032 ACTC1    HPRD  PubMed  
    P02774 P01024 C3    HPRD  PubMed  
    P02774 Q6P1J9 CDC73    HPRD  PubMed  
    P02774 O60494 CUBN    HPRD  PubMed  
    P02774 P02774 GC    HPRD  PubMed  
    P02774 Q5T3J3 LRIF1    HPRD  PubMed  
    P02774 P98164 LRP2    HPRD  PubMed  
    P02774 P84101 SERF2    HPRD  PubMed  
    BioGRID:108908 BioGRID:106573 ACTA1    BioGRID  PubMed Co-crystal Structure 
    BioGRID:108908 BioGRID:122724 CDC73    BioGRID  PubMed Two-hybrid 
    BioGRID:108908 BioGRID:113724 CUBN    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108908 BioGRID:108908 GC    BioGRID  PubMed Co-crystal Structure 
    BioGRID:108908 BioGRID:109142 GRB2    BioGRID  PubMed Two-hybrid 
    BioGRID:108908 BioGRID:120905 LRIF1    BioGRID  PubMed Two-hybrid 
    BioGRID:108908 BioGRID:110216 LRP2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108908 BioGRID:114075 PIK3R3    BioGRID  PubMed Two-hybrid 
    BioGRID:108908 BioGRID:115471 SERF2    BioGRID  PubMed Two-hybrid 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Metabolism of steroid hormones and vitamins A and D, organism-specific biosystem (from REACTOME)
      Metabolism of steroid hormones and vitamins A and D, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
    • Vitamin D (calciferol) metabolism, organism-specific biosystem (from REACTOME)
      Vitamin D (calciferol) metabolism, organism-specific biosystemVitamin D3 (cholecalciferol) is a steroid hormone that plays a role in regulating calcium and bone metabolism. It is obtained from the diet and produced in the skin by photolysis of 7-dehydrocholeste...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    vitamin D binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    vitamin transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    steroid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    vitamin D metabolic process TAS
    Traceable Author Statement
    more info
    		  
    vitamin transport TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
    		  
    extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IEA
    Inferred from Electronic Annotation
    more info
    		  
    lysosomal lumen TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    vitamin D-binding protein
    Names
    vitamin D-binding protein
    VDB
    gc-globulin
    vitamin D-binding alpha-globulin
    NP_000574.2
    NP_001191235.1
    NP_001191236.1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012837.2 RefSeqGene

      Range
      5001..68828
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000583.3 → NP_000574.2  vitamin D-binding protein isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) is a predominant transcript. This variant and variant 2 encode the same isoform (1).
      Source sequence(s)
      AA702473, AK223458, BX494962, X03178
      Consensus CDS
      CCDS3550.1
      UniProtKB/Swiss-Prot
      P02774
      Related
      ENSP00000273951, OTTHUMP00000160364, ENST00000273951, OTTHUMT00000252167
      Conserved Domains (3) summary
      cd00015
      Location:26 – 206
      Blast Score: 438
      ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...
      pfam09164
      Location:405 – 472
      Blast Score: 251
      VitD-bind_III; Vitamin D binding protein, domain III
      cl00031
      Location:217 – 392
      Blast Score: 184
      ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...

    2. NM_001204306.1 → NP_001191235.1  vitamin D-binding protein isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR and encodes the same isoform 1, as compared to variant 1.
      Source sequence(s)
      AA702473, AK223458
      Consensus CDS
      CCDS3550.1
      UniProtKB/Swiss-Prot
      P02774
      Conserved Domains (3) summary
      cd00015
      Location:26 – 206
      Blast Score: 438
      ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...
      pfam09164
      Location:405 – 472
      Blast Score: 251
      VitD-bind_III; Vitamin D binding protein, domain III
      cl00031
      Location:217 – 392
      Blast Score: 184
      ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...

    3. NM_001204307.1 → NP_001191236.1  vitamin D-binding protein isoform 3 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an alternate 5' sequence which contains an upstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has a longer N-terminus, as compared to isoform 1.
      Source sequence(s)
      AA702473, AC024722, AK223458, AK309595, AK315853
      Consensus CDS
      CCDS56332.1
      UniProtKB/TrEMBL
      D6RAK8
      UniProtKB/Swiss-Prot
      P02774
      Related
      ENSP00000421725, OTTHUMP00000218975, ENST00000504199, OTTHUMT00000362266
      Conserved Domains (3) summary
      cd00015
      Location:45 – 225
      Blast Score: 444
      ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...
      pfam09164
      Location:424 – 491
      Blast Score: 253
      VitD-bind_III; Vitamin D binding protein, domain III
      cl00031
      Location:236 – 411
      Blast Score: 187
      ALBUMIN; Albumin domain, contains five or six internal disulphide bonds; albuminoid superfamily includes alpha-fetoprotein which binds various cations, fatty acids and bilirubin; vitamin D-binding protein which binds to vitamin D, its metabolites, and fatty acids; ...

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000004.11 Reference GRCh37.p5 Primary Assembly

      Range
      72607410..72671237, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000136.1 Alternate HuRef

      Range
      68412706..68476557, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC024722.5 (111271..111293) None
    genomic CH471057.1 EAX05645.1
    genomic L10641.1 AAA61704.1
    genomic M17156.1 AAA19662.2
    genomic S54074.1 AAD13872.1
    genomic S67480.1 AAB29423.1
    genomic S77129.1 AAD14249.1
    genomic S77130.1 AAD14250.1
    mRNA AA702473.1 None
    mRNA AK223458.1 BAD97178.1
    mRNA AK290827.1 BAF83516.1
    mRNA AK298433.1 BAG60654.1
    mRNA AK309595.1 None
    mRNA AK312971.1 None
    mRNA AK315853.1 BAF98744.1
    mRNA BC022310.1 None
    mRNA BC057228.1 AAH57228.1
    mRNA BX494962.1 None
    mRNA X03178.1 CAA26938.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P02774.1 GenPept UniProtKB/Swiss-Prot:P02774
    Q6LDC6 GenPept UniProtKB/TrEMBL:Q6LDC6
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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