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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GC Gene

protein-coding   GIFtS: 63
GCID: GC04M072596

Group-Specific Component (Vitamin D Binding Protein)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Group-Specific Component (Vitamin D Binding Protein)1 2     gc-globulin2
DBP2 3 5     Vitamin D-Binding Alpha-Globulin2
VDB2 3     Vitamin D-Binding Protein2
GRD32 5     Gc-globulin3
DBP/GC2     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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 acute liver failure, and hepatic encephalopathy, and among its related super-pathways are Vitamin D2 (ergocalciferol) metabolism and Steroid hormones. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_022778.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: VTDB_HUMAN, P02774 (See protein sequence)
Recommended Name: Vitamin D-binding protein precursor  
Size: 474 amino acids; 52964 Da
Subcellular location: Secreted
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02774

  • 2 DME Specific Peptides for GC (P02774)
     PTADLED  KVPTADL 

    GC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GC Protein Expression
    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
    Human Recombinant Protein Products for GC: 
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    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 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space IEA--
    GO:0005829cytosol TAS--
    GO:0043202lysosomal lumen TAS--

    GC for ontologies           About GeneDecksing



    GC Antibody Products: 
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    R&D Systems Antibodies for GC (Vitamin D BP)
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    Cloud-Clone Corp. Antibodies for GC 
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    LSBio Antibodies in human, mouse, rat for GC 

    Assay Products for GC: 
    Browse Kits and Assays available from EMD Millipore
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    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)
    About This Section
    5/6 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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 - Custom generated mouse model solutions for GC 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    SwitchGear 3'UTR luciferase reporter plasmidGC 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GC


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GC About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Vitamin D2 (ergocalciferol) metabolism
    Vitamin D synthesis0.40
    Vitamin D (calciferol) metabolism0.36
    2Metabolism of steroid hormones and vitamin D
    Metabolism of steroid hormones and vitamin D1.00
    Steroid hormones1.00
    3Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for GC
        Vitamin D synthesis

    5        Reactome Pathways for GC
        Metabolism of steroid hormones and vitamin D
    Metabolism
    Steroid hormones
    Vitamin D (calciferol) metabolism
    Metabolism of lipids and lipoproteins



    GC for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GC

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

    5/18 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 (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GC for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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

    10/50 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)

    Search CenterWatch for drugs/clinical trials and news about GC / VTDB

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    Products:
         
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    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 

    24/354 AceView cDNA sequences (see all 354):

    T72396 BX405391 AL531857 CR599900 NM_000583 CR615579 CA777402 CA867326 
    BX448565 R84627 CR600738 CR598387 CR606955 CR624576 CR605798 CB147254 
    CR592599 CB130089 AL532176 CR598362 BI438941 BG568129 CB139138 T73316 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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 
     5/5 selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)
             Human Hepatocyte (HH)   
     
     Intestine (Gastrointestinal Tract)
             small intestine   
     
     Pancreas (Endocrine System)
             Pancreatic Islet   
     
     Kidney (Urinary System)
             Renal Vesicle
     
     Lung (Respiratory System)

    See GC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GC

    SOURCE GeneReport for Unigene cluster: Hs.418497
        SABiosciences Expression via Pathway-Focused PCR Array including GC: 
              Nephrotoxicity in human mouse rat

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    QIAGEN 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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for GC gene from 4/10 species (see all 10)    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) 59.84(n)
    51.08(a)
      395696  NM_204882.1  NP_990213.1 
    lizard
    (Anolis carolinensis)
    Reptilia GC6
    group-specific component (vitamin D binding protei...
    45(a)
    1 ↔ 1
    5(147574960-147604204)
    zebrafish
    (Danio rerio)
    Actinopterygii gc1 group-specific component (vitamin D binding protein) 45.6(n)
    31.71(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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: VTDB_HUMAN, P02774
    Polymorphism: 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


    10/1497 SNPs in GC are shown (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
    VAR_0141204
    ----see VAR_0141202 R C mis40--------
    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--------

    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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 139200    OMIM disorders: --

    20/76 diseases for GC (see all 76):    About MalaCards
    acute liver failure    hepatic encephalopathy    diffuse panbronchiolitis    central nervous system disease
    nervous system disease    osteoporosis, postmenopausal    herpes simplex    rickets
    alpha 1-antitrypsin deficiency    hyperparathyroidism    tuberous sclerosis complex    primary hyperparathyroidism
    osteomalacia    hypercalcemia    graves' disease    bone density
    tuberculosis    pulmonary tuberculosis    nephrotic syndrome    spinal cord injury


    GC for disorders           About GeneDecksing


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

    10/45 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)
    About This Section

    PubMed articles for GC gene, integrated from 9 sources (see all 521):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (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. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2638 HGNC: 4187 AceView: GC Ensembl:ENSG00000145321 euGenes: HUgn2638
    ECgene: GC H-InvDB: GC

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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