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GGCX Gene

protein-coding   GIFtS: 66
GCID: GC02M085771

Gamma-Glutamyl Carboxylase

  See GGCX-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)
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Aliases
Gamma-Glutamyl Carboxylase1 2 3     EC 4.1.1.903
Vitamin K-Dependent Gamma-Carboxylase1 2     GC3
Peptidyl-Glutamate 4-Carboxylase2 3     Vitamin K Gamma Glutamyl Carboxylase3
VKCFD12     

External Ids:    HGNC: 42471   Entrez Gene: 26772   Ensembl: ENSG000001154867   OMIM: 1371675   UniProtKB: P384353   

Export aliases for GGCX gene to outside databases

Previous GC identifers: GC02M085671 GC02M086070 GC02M085733 GC02M085750 GC02M085687 GC02M085629 GC02M085774 GC02M085673


(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 GGCX Gene:
This gene encodes an enzyme which catalyzes the posttranslational modification of vitamin K-dependent protein.
Many of these vitamin K-dependent proteins are involved in coagulation so the function of the encoded enzyme is
essential for hemostasis. Mutations in this gene are associated with vitamin K-dependent coagulation defect and
PXE-like disorder with multiple coagulation factor deficiency. Multiple transcript variants encoding different
isoforms have been found for this gene.(provided by RefSeq, Nov 2008)

GeneCards Summary for GGCX Gene:
GGCX (gamma-glutamyl carboxylase) is a protein-coding gene. Diseases associated with GGCX include vitamin k-dependent clotting factors, combined deficiency of, 1, and hemorrhagic disease. GO annotations related to this gene include gamma-glutamyl carboxylase activity.

UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435
Function: Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding
gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin
K to vitamin K epoxide

Gene Wiki entry for GGCX (Gamma-glutamyl carboxylase) 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 at NCBI GenBank:
NC_000002.11  NT_022184.16  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GGCX gene promoter:
         E2F-4   E2F-3a   E2F-5   Pbx1a   Olf-1   Nkx2-5   E2F-2   E2F   E2F-1   ZIC2/Zic2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGGCX promoter sequence
   Search Chromatin IP Primers for GGCX

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


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

Entrez Gene cytogenetic band: 2p12   Ensembl cytogenetic band:  2p11.2   HGNC cytogenetic band: 2p12

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M085771:  view genomic region     (about GC identifiers)

Start:
85,771,846 bp from pter      End:
85,788,670 bp from pter
Size:
16,825 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435 (See protein sequence)
Recommended Name: Vitamin K-dependent gamma-carboxylase  
Size: 758 amino acids; 87561 Da
Subunit: Monomer. May interact with CALU (By similarity)
Miscellaneous: The vitamin K-dependent protein substrates of carboxylase have usually a propeptide that binds to a
high-affinity site on the carboxylase. CO(2), O(2) and reduced vitamin K are cosubstrates
Secondary accessions: B4DMC5 E9PEE1 Q14415 Q6GU45
Alternative splicing: 2 isoforms:  P38435-1   P38435-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for GGCX: NX_P38435

Explore proteomics data for GGCX at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys91, Lys334
  • Glycosylation2 at Asn459, Asn550
  • Modification sites at PhosphoSitePlus

  • See GGCX Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000812.2  NP_001135741.1  

    ENSEMBL proteins: 
     ENSP00000233838   ENSP00000408045   ENSP00000389426   ENSP00000400384   ENSP00000390748  
    Reactome Protein details: P38435

    GGCX Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for GGCX
    OriGene Custom MassSpec
    OriGene Custom Protein Services for GGCX
    GenScript Custom Purified and Recombinant Proteins Services for GGCX
    Novus Biologicals GGCX Protein
    Novus Biologicals GGCX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for GGCX 

     
    antibodies-online proteins for GGCX (2 products) 

     
    antibodies-online peptides for GGCX

    GGCX Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals GGCX Antibodies
    Abcam antibodies for GGCX
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for GGCX
    antibodies-online antibodies for GGCX (37 products) 

    GGCX Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GGCX
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for GGCX 
    antibodies-online kits for GGCX (9 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    IUPHAR Guide to PHARMACOLOGY protein family classification: gamma-Glutamyl carboxylase
    Carboxylases

    4 InterPro protein domains:
     IPR007782 VKG_COase
     IPR011051 RmlC_Cupin
     IPR011020 HTTM
     IPR014710 RmlC-like_jellyroll

    Graphical View of Domain Structure for InterPro Entry P38435

    ProtoNet protein and cluster: P38435

    2 Blocks protein domains:
    IPB007782 Vitamin K-dependent gamma-carboxylase
    IPB011020 HTTM


    UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435
    Similarity: Belongs to the vitamin K-dependent gamma-carboxylase family


    Find genes that share domains with GGCX           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: VKGC_HUMAN, P38435
    Function: Mediates the vitamin K-dependent carboxylation of glutamate residues to calcium-binding
    gamma-carboxyglutamate (Gla) residues with the concomitant conversion of the reduced hydroquinone form of vitamin
    K to vitamin K epoxide
    Catalytic activity: [Peptidyl]-4-carboxyglutamate + 2,3-epoxyphylloquinone + H(2)O = [peptidyl]-glutamate + CO(2)
    + O(2) + phylloquinone
    Biophysicochemical properties: pH dependence: Optimum pH is 7;

         Genatlas biochemistry entry for GGCX:
    gamma-glutamyl carboxylase,activating vitamin K-dependent proteins,widely expressed

         Enzyme Number (IUBMB): EC 4.1.1.901

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008488gamma-glutamyl carboxylase activity IEA--
         
    Find genes that share ontologies with GGCX           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for GGCX:
     Synthetic lethal with imatinib  Upregulation of Wnt/beta-caten 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ggcx):
     cardiovascular system  homeostasis/metabolism  mortality/aging  skeleton 

    Find genes that share phenotypes with GGCX           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ggcxtm1Dgi for GGCX

       genOway: Develop your customized and physiologically relevant rodent model for GGCX

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

    Block miRNA regulation of human, mouse, rat GGCX using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GGCX (see all 67):
    hsa-miR-26a-2* hsa-miR-1321 hsa-miR-3146 hsa-miR-106a hsa-miR-134 hsa-miR-138-2* hsa-miR-652 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidGGCX 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat GGCX

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for GGCX
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GGCX (NM_000821)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGCX

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for GGCX 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGCX


    (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
    VKGC_HUMAN, P38435: Endoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus2
    peroxisome2
    plasma membrane2
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane TAS1749935
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with GGCX           About GenesLikeMe


    (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 GGCX About    
    See pathways by source

    SuperPathContained pathways About
    1PTM- gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM- gamma carboxylation, hypusine formation and arylsulfatase activation0.31
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.00
    Warfarin Pathway, Pharmacodynamics0.31
    Gamma-carboxylation of protein precursors0.00
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Ubiquinol biosynthesis
    Ubiquinone and other terpenoid-quinone biosynthesis0.42


    Find genes that share SuperPaths with GGCX           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for GGCX
        Gamma-carboxylation of protein precursors

    1 PharmGKB Pathway for GGCX
        Warfarin Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for GGCX):
        Ubiquinone and other terpenoid-quinone biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GGCX
    Interactions:

        GeneGlobe Interaction Network for GGCX

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for GGCX (P384353 ENSP000002338384) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    F2P007343, ENSP000003085414I2D: score=1 STRING: ENSP00000308541
    F7P087093, ENSP000003647314I2D: score=1 STRING: ENSP00000364731
    PROCP040703, ENSP000002340714I2D: score=1 STRING: ENSP00000234071
    BGLAPP028183, ENSP000003572554I2D: score=1 STRING: ENSP00000357255
    F10P007423, ENSP000003647094I2D: score=1 STRING: ENSP00000364709
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process TAS1749935
    GO:0007596blood coagulation TAS9845520
    GO:0017187peptidyl-glutamic acid carboxylation TAS--
    GO:0043687post-translational protein modification TAS--
    GO:0044267cellular protein metabolic process TAS--

    Find genes that share ontologies with GGCX           About GenesLikeMe



    (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 GGCX (VKGC)

    5 HMDB Compounds for GGCX    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    L-Glutamic acid(2S)-2-Aminopentanedioate (see all 49)56-86-0--
    MenadioneVitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)58-27-5--
    Reduced Vitamin K (phylloquinone)vitamin K hydroquinone (phylloquinone) 81382-12-9--
    Vitamin K1 2,3-epoxide(2,3-Epoxyphytyl)menaquinone (see all 10)25486-55-9--

    7 DrugBank Compounds for GGCX    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Phytonadione2-Methyl-3-phythyl-1,4-naphthochinon (see all 12)84-80-0targetinducer16929463 105006 11752352 8473318 6380538 7638250
    Coagulation Factor IXChristmas factor (see all 4)9001-28-9target--9115224 8506307 14660587 9748333 9141486
    Anisindione-- 117-37-3targetinhibitor17139284 11752352 17016423
    Coagulation factor VIIaCoagulation factor VII precursor (see all 5)9001-25-6target--17139284 10901669 17016423
    Menadione2-Methyl-1,4-Naphthalenedione (see all 7)58-27-5targetcofactor7657295 16102054 12083499
    Drotrecogin alfaAnticoagulant protein C (see all 4)60202-16-6target--17016423 17139284
    L-Glutamic Acid(2S)-2-Aminopentanedioic acid (see all 15)56-86-0target--17327402 17112295

    Selected Novoseek inferred chemical compound relationships for GGCX gene (see all 13)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vitamin k epoxide 95.8 24 17049586 (2), 15287948 (1), 19942260 (1), 19598072 (1) (see all 14)
    vitamin k hydroquinone 93 1 18374191 (1)
    gamma-carboxyglutamic acid 92.3 8 11818531 (1), 12963724 (1), 9256436 (1), 11570873 (1) (see all 8)
    warfarin 72.1 46 16676068 (3), 17049586 (3), 17764537 (2), 19582440 (2) (see all 12)
    vitamin k2 69.1 5 11580082 (1), 17189218 (1), 17909264 (1)
    glutamate 52.5 13 12963724 (1), 18374191 (1), 19448531 (1), 9256436 (1) (see all 12)
    epoxide 46.5 3 16493479 (1), 15900282 (1)
    calcium oxalate 42.6 8 19821094 (3), 12875724 (2)
    cyanogen bromide 39.1 1 9115224 (1)
    cysteine 10.3 1 10413529 (1)

    1 PharmGKB related drug/compound annotation for GGCX gene    About this table
    Drug/compound PharmGKB Annotation
    warfarinCA  



    Find genes that share compounds with GGCX           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for GGCX gene (2 alternative transcripts): 
    NM_000821.5  NM_001142269.2  

    Unigene Cluster for GGCX:

    Gamma-glutamyl carboxylase
    Hs.77719  [show with all ESTs]
    Unigene Representative Sequence: NM_000821
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000233838(uc010yss.2 uc002sps.3 uc010yst.2) ENST00000465637
    ENST00000430215 ENST00000473665 ENST00000482662 ENST00000423570 ENST00000421496
    ENST00000428479 ENST00000481541 ENST00000496962
    miRNA
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    Block miRNA regulation of human, mouse, rat GGCX using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate GGCX (see all 67):
    hsa-miR-26a-2* hsa-miR-1321 hsa-miR-3146 hsa-miR-106a hsa-miR-134 hsa-miR-138-2* hsa-miR-652 hsa-miR-637
    SwitchGear 3'UTR luciferase reporter plasmidGGCX 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat GGCX
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): GGCX (NM_000821)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GGCX
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GGCX
    Primer
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    OriGene qPCR primer pairs and template standards for GGCX
    OriGene qSTAR qPCR primer pairs in human, mouse for GGCX
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GGCX
      QuantiTect SYBR Green Assays in human, mouse, rat GGCX
      QuantiFast Probe-based Assays in human, mouse, rat GGCX

    Additional mRNA sequence: 

    AK054569.1 AK130139.1 AK222827.1 AK225663.1 AK297397.1 AK298982.1 AK310483.1 AK313126.1 
    BC004422.1 BC013979.2 EU847509.1 L17128.1 M81592.1 

    Selected DOTS entries (see all 25):

    DT.95161822  DT.95161823  DT.101960082  DT.40295726  DT.99952533  DT.86853340  DT.95123247  DT.75171568 
    DT.121022921  DT.121022995  DT.86853339  DT.100878478  DT.121022890  DT.95375821  DT.100646484  DT.97862448 
    DT.91689716  DT.75123054  DT.92043845  DT.95096121  DT.95161821  DT.95355911  DT.97861858  DT.100878459 

    Selected AceView cDNA sequences (see all 143):

    CF130291 BE898541 BC013979 BM773500 AW593937 AI086133 BM558283 AI565796 
    BU730317 CA427238 AI968453 BM763478 BM808591 AW517132 BM704752 CA429638 
    CR607119 AI654844 BQ940402 AW152305 BM693901 BM848085 BE741282 BM721836 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GGCX (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b · 12c ^
    SP1:                                                  -                                         -                                                               
    SP2:                                      -     -     -     -     -     -     -     -     -     -     -     -     -     -                                       
    SP3:                                                                                                                                                            
    SP4:                    -                             -                                                                                                         
    SP5:                                                                                                                                -     -                     

    ExUns: 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for GGCX

    (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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    GGCX expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTCTTAAT
    GGCX Expression
    About this image


    GGCX expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Brain (Nervous System)
             Cerebellum
    GGCX Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GGCX Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.77719
        Custom PCR Arrays for GGCX
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    (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 animals.

    Orthologs for GGCX gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ggcx1 , 5 gamma-glutamyl carboxylase1, 5 87.14(n)1
    89.56(a)1
      6 (32.27 cM)5
    563161  NM_019802.51  NP_062776.11 
     724143085 
    lizard
    (Anolis carolinensis)
    Reptilia GGCX6
    gamma-glutamyl carboxylase
    71(a)
    1 ↔ 1
    GL343608.1(190835-203095)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.101392 Transcribed sequence with moderate similarity to protein more 76.83(n)    AL893507.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1005376041 vitamin K-dependent gamma-carboxylase-like 64.29(n)
    67.51(a)
      100537604  XM_003199294.2  XP_003199342.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta GC1 , 3 gamma-glutamyl carboxylase1, 3 42(a)3
    53.16(n)1
    45.26(a)1
      62A93
    381941  NM_001169852.11  NP_001163323.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    (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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    Selected SNPs for GGCX (see all 534)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289288721,2,,4
    CCombined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1)4 pathogenic185643133(-) ATCCTC/GGGTGC 4 S W mis10--------
    VAR_0329794
    Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)4--see VAR_0329792 F S mis40--------
    VAR_0329804
    Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)4--see VAR_0329802 R C mis40--------
    VAR_0329814
    Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)4--see VAR_0329812 R H mis40--------
    VAR_0057814
    Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1)4--see VAR_0057812 L R mis40--------
    VAR_0329834
    Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)4--see VAR_0329832 G R mis40--------
    VAR_0218264
    Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1)4--see VAR_0218262 R P mis40--------
    VAR_0329824
    Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)4--see VAR_0329822 W S mis40--------
    rs1219096841,2
    Cpathogenic185644702(-) GTTCTC/TCTACG 4 S F mis10--------
    rs18678801,2
    C--85635678(-) AGCTGA/GAAGTG 2 -- ds50012Minor allele frequency- G:0.00MN NA 186

    HapMap Linkage Disequilibrium report for GGCX (85771846 - 85788670 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for GGCX:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv2811CNV Insertion18451855

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 137167   
    OMIM disorders: 277450  610842  
    UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435
  • Combined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1) [MIM:277450]: VKCFD leads to a
    bleeding tendency that is usually reversed by oral administration of vitamin K. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency (PXEL-MCFD)
    [MIM:610842]: Characterized by hyperlaxity of the skin involving the entire body. Important phenotypic
    differences with classical PXE include much more severe skin laxity with spreading toward the trunk and limbs
    with thick, leathery skin folds rather than confinement to flexural areas, and no decrease in visual acuity.
    Moreover, detailed electron microscopic analyzes revealed that alterations of elastic fibers as well as their
    mineralization are slightly different from those in classic PXE. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 7 diseases for GGCX:    
    About MalaCards
    vitamin k-dependent clotting factors, combined deficiency of, 1    hemorrhagic disease    pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency    vitamin k-dependent coagulation defect
    vitamin k deficiency hemorrhagic disease    pseudoxanthoma elasticum    herpes simplex

    2 diseases from the University of Copenhagen DISEASES database for GGCX:
    Pseudoxanthoma elasticum     Vitamin K deficiency hemorrhagic disease

    Find genes that share disorders with GGCX           About GenesLikeMe

    4 Novoseek inferred disease relationships for GGCX gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    coagulopathy 43.2 3 15102014 (1), 10934213 (1), 19340858 (1)
    urolithiasis 41 4 19821094 (2), 12875724 (1)
    herpes simplex 27.8 3 9029114 (1), 8764057 (1), 18495765 (1)
    calcification 9.31 2 20368697 (2)

    Genatlas disease: GGCX
    combined deficiency of all vitamin K-dependent blood coagulation factors

    Genetic Association Database (GAD): GGCX
    Human Genome Epidemiology (HuGE) Navigator: GGCX (34 documents)

    Export disorders for GGCX 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 GGCX gene, integrated from 10 sources (see all 156):
    (articles sorted by number of sources associating them with GGCX)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and expression of the cDNA for human gamma-glutamyl carboxylase. (PubMed id 1749935)1, 2, 3, 9 Wu S.-M.... Stafford D.W. (Science 1991)
    2. Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis. (PubMed id 19821094)1, 4, 9 Qiao J....Ye Z. (J. Huazhong Univ. Sci. Technol. Med. Sci. 2009)
    3. Genotype polymorphisms of GGCX, NQO1, and VKORC1 genes associated with risk susceptibility in patients with large-artery atherosclerotic stroke. (PubMed id 20193673)1, 4, 9 Shyu H.Y....Cheng C.W. ( international journal of clinical chemistry 2010)
    4. A topological study of the human gamma-glutamyl carboxylase. (PubMed id 10910912)1, 2, 9 Tie J.... Stafford D.W. (Blood 2000)
    5. A multiplex assay for detecting genetic variations in CYP2C9, VKORC1, and GGCX involved in warfarin metabolism. (PubMed id 19233910)1, 4, 9 Rai A.J....Fleisher M. (Clin. Chem. 2009)
    6. Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients. (PubMed id 17049586)1, 4, 9 Kimura R....Miyata T. (Thromb. Res. 2007)
    7. The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement. (PubMed id 16676068)1, 4, 9 Herman D....Dolzan V. (Thromb. Haemost. 2006)
    8. Genetic determinants of acenocoumarol and phenprocoumon maintenance dose requirements. (PubMed id 20020283)1, 4, 9 Cadamuro J....Oberkofler H. (Eur. J. Clin. Pharmacol. 2010)
    9. A functional single nucleotide polymorphism in the vitamin-K-dependent gamma-glutamyl carboxylase gene (Arg325Gln) is associated with bone mineral density in elderly Japanese women. (PubMed id 17029979)1, 4, 9 Kinoshita H....Hosoi T. (Bone 2007)
    10. Polymorphisms in vitamin K-dependent gamma-carboxylation-related genes influence interindividual variability in plasma protein C and protein S activities in the general population. (PubMed id 17189218)1, 4, 9 Kimura R....Miyata T. (Int. J. Hematol. 2006)

    (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: 2677 HGNC: 4247 AceView: GGCX Ensembl:ENSG00000115486 euGenes: HUgn2677
    ECgene: GGCX Kegg: 2677 H-InvDB: GGCX

    (According to HUGE)
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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 GGCX Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GGCX gene:
    Search GeneIP for patents involving GGCX

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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