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GC Gene

protein-coding   GIFtS: 64
GCID: GC04M072596

Group-Specific Component (Vitamin D Binding Protein)

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Group-Specific Component (Vitamin D Binding Protein)1 2     Epididymis Secretory Protein Li 512
DBP2 3 5     gc-globulin2
VDB2 3     Vitamin D-Binding Alpha-Globulin2
GRD32 5     Vitamin D-Binding Protein2
DBP/GC2     Gc-globulin3
HEL-S-512     Group-Specific Component3
VDBG2     EC 6.3.1.58
VDBP2     

External Ids:    HGNC: 41871   Entrez Gene: 26382   Ensembl: ENSG000001453217   OMIM: 1392005   UniProtKB: P027743   

Export aliases for GC gene to outside databases

Previous GC identifers: GC04M072847 GC04M073008 GC04M073073 GC04M072972 GC04M072826 GC04M068412


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for GC Gene:
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)

GeneCards Summary for GC Gene:
GC (group-specific component (vitamin D binding protein)) is a protein-coding gene. Diseases associated with GC include graves disease 3, and acute liver failure. GO annotations related to this gene include actin binding and vitamin transporter activity. An important paralog of this gene is AFM.

UniProtKB/Swiss-Prot: VTDB_HUMAN, P02774
Function: Multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid, and urine and on the
surface of many cell types. In plasma, it carries the vitamin D sterols and prevents polymerization of actin by
binding its monomers. DBP associates with membrane-bound immunoglobulin on the surface of B-lymphocytes and with
IgG Fc receptor on the membranes of T-lymphocytes

Gene Wiki entry for GC (Vitamin D-binding protein) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000004.12  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GC gene promoter:
         GR   AP-1   ATF-2   HSF1 (long)   Nkx2-5   C/EBPalpha   HSF1short   GR-alpha   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGC promoter sequence
   Search Chromatin IP Primers for GC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q12-q13   Ensembl cytogenetic band:  4q13.3   HGNC cytogenetic band: 4q12-q13

GC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GC gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M072596:  view genomic region     (about GC identifiers)

Start:
72,607,410 bp from pter      End:
72,671,237 bp from pter
Size:
63,828 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: VTDB_HUMAN, P02774 (See protein sequence)
Recommended Name: Vitamin D-binding protein precursor  
Size: 474 amino acids; 52964 Da
Sequence caution: Sequence=BAG60654.1; Type=Erroneous translation; Note=Wrong choice of CDS;
6 PDB 3D structures from and Proteopedia for GC:
1J78 (3D)        1J7E (3D)        1KW2 (3D)        1KXP (3D)        1LOT (3D)        1MA9 (3D)    
Secondary accessions: B4DPP2 D6RAK8 Q16309 Q16310 Q53F31 Q6GTG1
Alternative splicing: 3 isoforms:  P02774-1   P02774-2   P02774-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GC: NX_P02774

Explore proteomics data for GC at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn288
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for GC (P02774)
     PTADLED  KVPTADL 


    See GC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_000574.2  NP_001191235.1  NP_001191236.1  

    ENSEMBL proteins: 
     ENSP00000273951   ENSP00000421725   ENSP00000426683   ENSP00000422664   ENSP00000426718  
    Reactome Protein details: P02774

    GC Human Recombinant Protein Products:

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    OriGene Purified Protein for GC
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    OriGene MassSpec for GC
    OriGene Custom Protein Services for GC
    GenScript Custom Purified and Recombinant Proteins Services for GC
    Novus Biologicals GC Protein
    Novus Biologicals GC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GC

    GC Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    OriGene Antibodies for GC
    OriGene Custom Antibody Services for GC
    Novus Biologicals GC Antibodies
    Abcam antibodies for GC
    Cloud-Clone Corp. Antibodies for GC
    ThermoFisher Antibody for GC
    LSBio Antibodies in human, mouse, rat for GC

    GC Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for GC
    R&D Systems ELISAs for GC (Vitamin D BP)         (see all)
    GenScript Custom Assay Services for GC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GC
    Cloud-Clone Corp. CLIAs for GC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR000264 ALB/AFP/VDB
     IPR000213 VitD-bd
     IPR014760 Serum_albumin_N
     IPR015247 VitD-bind_III
     IPR020858 Serum_albumin-like

    Graphical View of Domain Structure for InterPro Entry P02774

    ProtoNet protein and cluster: P02774

    2 Blocks protein domains:
    IPB000213 Vitamin D-binding protein signature
    IPB000264 Serum albumin family


    UniProtKB/Swiss-Prot: VTDB_HUMAN, P02774
    Similarity: Belongs to the ALB/AFP/VDB family
    Similarity: Contains 3 albumin domains


    GC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VTDB_HUMAN, P02774
    Function: Multifunctional protein found in plasma, ascitic fluid, cerebrospinal fluid, and urine and on the
    surface of many cell types. In plasma, it carries the vitamin D sterols and prevents polymerization of actin by
    binding its monomers. DBP associates with membrane-bound immunoglobulin on the surface of B-lymphocytes and with
    IgG Fc receptor on the membranes of T-lymphocytes

         Genatlas biochemistry entry for GC:
    group-specific component (vitamin D binding protein),52.9kDa,found in plasma,CSF,urine and the cell surface of
    many cell types

         Enzyme Number (IUBMB): EC 6.3.1.52

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IPI12119014
    GO:0005499vitamin D binding TAS1696927
    GO:0051183vitamin transporter activity IEA--
    GO:1902118calcidiol binding IDA11799400
         
    GC for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for GC:
     Decreased POU5F1-GFP protein e  Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Gc):
     endocrine/exocrine gland  homeostasis/metabolism  skeleton 

    GC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gctm1Nec for GC

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GC

    miRNA
    Products:
        
    miRTarBase miRNAs that target GC:
    hsa-mir-335-5p (MIRT016788)

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    Search for qRT-PCR Assays for microRNAs that regulate GC
    SwitchGear 3'UTR luciferase reporter plasmidGC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GC
    Predesigned siRNA for gene silencing in human, mouse, rat GC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GC

    Clone
    Products:
         
    OriGene clones in human, mouse for GC (see all 6)
    OriGene ORF clones in mouse, rat for GC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: GC (NM_020989)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GC

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GC 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    VTDB_HUMAN, P02774: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol4
    lysosome4
    vacuole4
    cytoskeleton2
    nucleus2
    plasma membrane2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ----
    GO:0005829cytosol TAS--
    GO:0043202lysosomal lumen TAS--
    GO:0072562blood microparticle IDA--

    GC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GC About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    2Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D
    Vitamin D (calciferol) metabolism0.00
    3Vitamin D synthesis
    Vitamin D synthesis

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GC
        Vitamin D synthesis

    1 Reactome Pathway for GC
        Vitamin D (calciferol) metabolism



    GC for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including GC: 
              Nephrotoxicity in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for GC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    Selected Interacting proteins for GC (P027742, 3 ENSP000002739514) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTA1P681332, 3, ENSP000003556454MINT-24830 MINT-24961 I2D: score=4 STRING: ENSP00000355645
    LRIF1Q5T3J32, 3MINT-63353 I2D: score=4 
    HYPKQ9NX552, 3MINT-63354 I2D: score=1 
    SERF2P841013, ENSP000002497864I2D: score=3 STRING: ENSP00000249786
    LRP2P981643, ENSP000002638164I2D: score=2 STRING: ENSP00000263816
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008202steroid metabolic process TAS--
    GO:0042359vitamin D metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0051180vitamin transport TAS1696927

    GC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GC (VTDB)

    3 DrugBank Compounds for GC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Alfacalcidol1-hydroxycholecalciferol (see all 3)41294-56-8carriersubstrate17023693 10052453 11799400 8660814 8759764
    Cholecalciferol(+)-vitamin D3 (see all 5)67-97-0carrier--17023693 10052453 11799400 8660814 8759764
    Oleic Acid-- 112-80-1carrier--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for GC gene (see all 50)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin d 91 568 1667458 (6), 16115686 (5), 18721734 (5), 19116321 (4) (see all 99)
    25-hydroxyvitamin d 86.2 71 17056796 (2), 2394211 (2), 11814777 (2), 19303961 (2) (see all 41)
    calcitriol 86.1 74 7554318 (3), 8147918 (2), 7976510 (2), 15868280 (2) (see all 47)
    bromoacetate 74.5 3 10620374 (3)
    bnps-skatole 72.5 3 10620374 (1), 9200691 (1)
    1,25(oh)2-16-ene-23-yne-d3 72.5 2 2004595 (1), 1796753 (1)
    1,25 dihydroxy vitamin d3 67.2 10 2173481 (2), 2153815 (1), 1667458 (1), 2224592 (1) (see all 7)
    22-oxacalcitriol 58.1 4 12417596 (1)
    dops 44.7 2 15125786 (1), 15868280 (1)
    calcipotriol 42.6 2 2004595 (1), 1796753 (1)



    GC for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GC gene (3 alternative transcripts): 
    NM_000583.3  NM_001204306.1  NM_001204307.1  

    Unigene Cluster for GC:

    Group-specific component (vitamin D binding protein)
    Hs.418497  [show with all ESTs]
    Unigene Representative Sequence: NM_000583
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000273951(uc003hge.3 uc021xpb.1) ENST00000504199(uc010iif.3)
    ENST00000503364 ENST00000513476 ENST00000509740 ENST00000503472 ENST00000505234
    ENST00000506245
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Block miRNA regulation of human, mouse, rat GC using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate GC
    SwitchGear 3'UTR luciferase reporter plasmidGC 3' UTR sequence
    Inhib. RNA
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    Primer
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    OriGene qPCR primer pairs and template standards for GC
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GC
      QuantiTect SYBR Green Assays in human, mouse, rat GC
      QuantiFast Probe-based Assays in human, mouse, rat GC

    Additional mRNA sequence: 

    AK223458.1 AK290827.1 AK309595.1 AK312971.1 AK315853.1 BC022310.1 BC057228.1 X03178.1 

    14 DOTS entries:

    DT.92413332  DT.454989  DT.121273216  DT.100878018  DT.100878009  DT.100651644  DT.100836279  DT.92441811 
    DT.121640641  DT.419284  DT.92441816  DT.95173051  DT.97780386  DT.87078966 

    Selected AceView cDNA sequences (see all 354):

    CB148308 AA700045 CR598362 T39954 CB117028 CB134918 T55850 CR615579 
    CB114875 AL531857 BX094418 BU072926 CR623633 CR604515 CR615226 CR602970 
    CB130089 CR626806 CR591437 BX406347 AL532176 CR605798 CR597042 CB147254 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    GC expression in normal human tissues (normalized intensities)      GC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATTAACT
    GC Expression
    About this image


    GC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Kidney (Urinary System)
             Renal Vesicle
     
     Lung (Respiratory System)
     
     Liver (Hepatobiliary System)
    GC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.418497
        Pathway & Disease-focused RT2 Profiler PCR Array including GC: 
              Nephrotoxicity in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for GC
    OriGene qSTAR qPCR primer pairs in human, mouse for GC
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    QuantiFast Probe-based Assays in human, mouse, rat GC
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GC

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for GC gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gc1 , 5 group specific component1, 5 80.45(n)1
    78.06(a)1
      5 (44.32 cM)5
    144731  NM_008096.21  NP_032122.11 
     894175115 
    chicken
    (Gallus gallus)
    Aves GC1 group-specific component (vitamin D binding protein) 59.36(n)
    50.64(a)
      395696  NM_204882.1  NP_990213.1 
    lizard
    (Anolis carolinensis)
    Reptilia GC6
    group-specific component (vitamin D binding protei...
    43(a)
    1 ↔ 1
    5(147574960-147604204)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia gc1 group-specific component (vitamin D binding protein) 55.44(n)
    42.43(a)
      548462  NM_001015745.1  NP_001015745.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gc1 group-specific component (vitamin D binding protein) 46.74(n)
    32.05(a)
      436841  NM_001002568.1  NP_001002568.1 


    ENSEMBL Gene Tree for GC (if available)
    TreeFam Gene Tree for GC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for GC gene
    AFM2  ALB2  AFP2  

    GC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    VTDB_HUMAN, P02774: Over 80 variants of human DBP have been identified. The three most common alleles are called GC*1F,
    GC*1S, and GC*2. The sequence shown is that of the GC*2 allele


    Selected SNPs for GC (see all 1497)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs45881,2,,4
    C,F,Hnon-pathogenic172493309(-) ACCCAC/AGGAAC 6 /K /T mis1 ese332Minor allele frequency- A:0.22MN NA NS EA WA EU 9653
    rs70411,2,,4
    C,F,O,A,Hnon-pathogenic172493320(-) CCTGAT/GGCCAC 6 /E /D mis136Minor allele frequency- G:0.42MN EU NA NS EA WA 10400
    rs3684861331,2
    C--68415449(+) GCCTG-/GAGA  
      CAGAGC
    AGACA
    3 -- int10--------
    rs342656621,2
    C--68422854(+) GTAAT-/AAAAAA 3 -- int10--------
    rs623021681,2
    C--68446079(+) TTTAAT/ATGAAA 3 -- int11Minor allele frequency- A:0.50NA 2
    rs20707431,2
    C--72481931(-) CTGCAC/TGCCAG 3 -- ds50013Minor allele frequency- T:0.17NA CSA 6
    rs1138941511,2
    C,F--72481940(+) AGTAGC/TGTGAT 3 -- ds50012Minor allele frequency- T:0.09WA 120
    rs1397245941,2
    C--72481996(+) GCCTCA/GGCCTC 3 -- ds50010--------
    rs1879477631,2
    --72482073(+) AGGGTG/TTCACC 3 -- ds50010--------
    rs1932018561,2
    --72482101(+) CTCGAA/GCTCCT 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for GC (72607410 - 72671237 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for GC:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv829967CNV Loss17160897
    nsv437395CNV Loss16327808
    nsv879476CNV Loss21882294
    nsv879477CNV Gain21882294
    nsv822615CNV Gain20364138

    Human Gene Mutation Database (HGMD): GC
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GC
    DNA2.0 Custom Variant and Variant Library Synthesis for GC

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 139200    OMIM disorders: --

    Selected diseases for GC (see all 84):    About MalaCards
    graves disease 3    acute liver failure    hepatic encephalopathy    diffuse panbronchiolitis
    central nervous system disease    nervous system disease    rickets    osteoporosis
    herpes simplex    alpha 1-antitrypsin deficiency    tuberous sclerosis complex    tuberculosis
    primary hyperparathyroidism    pulmonary tuberculosis    pulmonary disease, chronic obstructive    hypercalcemia
    osteomalacia    hyperparathyroidism    tuberous sclerosis    graves' disease


    GC for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for GC gene (see all 45)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin d deficiency 61.4 1 10526241 (1)
    idiopathic osteoporosis 55.9 2 16339300 (1), 18038108 (1)
    rickets 49.5 3 1802786 (1), 2004595 (1), 2173481 (1)
    hepatic failure fulminant 48.2 8 17852808 (2), 9267951 (2), 19002085 (1), 16402919 (1) (see all 5)
    pulmonary disease chronic obstructive 41.5 12 15059409 (2), 16637263 (2), 14987123 (1), 11757623 (1) (see all 5)
    herpes simplex 41.4 10 18480440 (1), 8406590 (1), 9472620 (1), 12441085 (1) (see all 9)
    hepatic encephalopathy 40.6 3 11521994 (1), 19232164 (1)
    osteoporosis 40.3 14 12968673 (3), 16339300 (2), 19488670 (2), 10485974 (1) (see all 8)
    multiple organ failure 37.3 7 9267951 (2), 10446889 (1), 16402919 (1), 17360250 (1) (see all 5)
    hypercalcemia 35.6 2 19364661 (1), 2318935 (1)

    Genetic Association Database (GAD): GC
    Human Genome Epidemiology (HuGE) Navigator: GC (838 documents)

    Export disorders for GC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GC gene, integrated from 10 sources (see all 530):
    (articles sorted by number of sources associating them with GC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A structural basis for the unique binding features of the human vitamin D-binding protein. (PubMed id 11799400)1, 2, 7, 9 Verboven C....De Ranter C. (Nat. Struct. Biol. 2002)
    2. The Gc2 allele of the vitamin D binding protein is associated with a decreased postmenopausal breast cancer risk, independent of the vitamin D status. (PubMed id 18559548)1, 4, 9 Abbas S....Chang-Claude J. (amp 2008)
    3. Association of vitamin D binding protein variants with chronic mucus hypersecretion in Iceland. (PubMed id 14987123)1, 4, 9 Laufs J....Hakonarson H. (Am J Pharmacogenomics 2004)
    4. Genetic polymorphisms of the vitamin D binding protein and plasma concentrations of 25-hydroxyvitamin D in premenopausal women. (PubMed id 19116321)1, 4, 9 Sinotte M....Brisson J. (Am. J. Clin. Nutr. 2009)
    5. [Allele polymorphism of alkaline phosphatase, acid soluble phosphatase, and vitamin D-binding protein genes in postmenopausal osteoporosis]. (PubMed id 15230135)1, 4, 9 Krylov M.I.u....Benevolenskaia L.I. (Ter. Arkh. 2004)
    6. Vitamin D binding protein, bone status and body composition in community-dwelling elderly men. (PubMed id 16309986)1, 4, 9 Taes Y.E....Kaufman J.M. (Bone 2006)
    7. [The relationship between vitamin D binding protein gene polymorphism and chronic obstructive pulmonary disease]. (PubMed id 15059409)1, 4, 9 Lu M....Cai Y.Y. (Zhonghua Nei Ke Za Zhi 2004)
    8. Vitamin D-related genes, serum vitamin D concentrations and prostate cancer risk. (PubMed id 19255064)1, 4, 9 Ahn J....Hayes R.B. (Carcinogenesis 2009)
    9. Vitamin D pathway gene polymorphisms, diet, and risk of postmenopausal breast cancer: a nested case-control study. (PubMed id 17244366)1, 4, 9 McCullough M.L....Calle E.E. (Breast Cancer Res. 2007)
    10. [Genetic predisposition to development of toxic liver cirrhosis caused by alcohol]. (PubMed id 11436564)1, 4, 9 Spitsyn V.A....Afanas'eva I.S. (Genetika 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2638 HGNC: 4187 AceView: GC Ensembl:ENSG00000145321 euGenes: HUgn2638
    ECgene: GC H-InvDB: GC

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GC Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for GC gene:
    Search GeneIP for patents involving GC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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