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

GGCX Gene

protein-coding   GIFtS: 65
GCID: GC02M085771

Gamma-Glutamyl Carboxylase

  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
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, and among its related super-pathways are Removal of aminoterminal propeptides from gamma-carboxylated proteins and Post-translational protein modification. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_022184.15  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GGCX

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
85,771,978 bp from pter      End:
85,788,670 bp from pter
Size:
16,693 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: 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)
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P38435

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

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

    ENSEMBL proteins: 
     ENSP00000233838   ENSP00000408045   ENSP00000389426   ENSP00000400384   ENSP00000390748  
    Reactome Protein details: P38435
    Human Recombinant Protein Products for GGCX: 
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    OriGene Protein Over-expression Lysate for GGCX
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    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. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

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

    GGCX for ontologies           About GeneDecksing



    GGCX Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: γ-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


    GGCX 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: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008488gamma-glutamyl carboxylase activity IEA--
         
    GGCX for ontologies           About GeneDecksing


    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 

    GGCX for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ggcxtm1Dgi for GGCX

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GGCX 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GGCX

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

    miRNA
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    8/67 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GGCX


    (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 GGCX About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Gamma-carboxylation of protein precursors0.89
    Warfarin Pathway, Pharmacodynamics0.67
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins0.82
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation0.46
    4Ubiquinone and other terpenoid-quinone biosynthesis
    Ubiquinone and other terpenoid-quinone biosynthesis0.42

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for GGCX
        Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Metabolism of proteins
    Post-translational protein modification
    Gamma-carboxylation of protein precursors
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation

    1 PharmGKB Pathway for GGCX
        Warfarin Pathway, Pharmacodynamics

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


    GGCX for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GGCX

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

    5/11 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 (GO ID links to tree view):    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--

    GGCX 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

    GGCX for compounds           About GeneDecksing

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

    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

    10/13 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  

    Search CenterWatch for drugs/clinical trials and news about GGCX / VKGC

    (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,
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    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 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:
    ENST00000465637 ENST00000233838(uc010yss.2 uc002sps.3 uc010yst.2)
    ENST00000430215 ENST00000473665 ENST00000482662 ENST00000423570 ENST00000421496
    ENST00000428479 ENST00000481541 ENST00000496962
    miRNA
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    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
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    Inhib. RNA
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      QIAGEN 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 

    24/25 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 

    24/143 AceView cDNA sequences (see all 143):

    BM721836 CA427238 BF223288 AI565796 BM808591 BQ940402 AW152305 CA429638 
    BC013979 BM763478 AI086133 AI968453 BU682134 AW593937 BM773500 BE741282 
    AI654844 BE898541 BM848085 AI123873 BM704752 BU730317 CF130291 BM558283 

    GeneLoc Exon Structure

    5/12 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™, 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

    GGCX expression in normal human tissues (normalized intensities)      GGCX embryonic expression: see
    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 
     5/21 selected tissues (see all 21) fully expand
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             salivary gland ; glandular cells   
             mouth   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Blood (Respiratory System)    fully expand to see all 2 entries
             lung ; macrophages   
             monocyte-derived macrophage   
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 2 entries
             small intestine ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             bronchus ; respiratory epithelial cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.77719
        SABiosciences 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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GGCX gene from 5/13 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 87.1(n)1
    89.56(a)1
      6 (32.27 cM)5
    563161  NM_019802.41  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 64.35(n)
    67.82(a)
      100537604  XM_003199294.1  XP_003199342.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta GC1 , 3 gamma-glutamyl carboxylase1, 3 42(a)3
    53.73(n)1
    46.08(a)1
      62A93
    381941  NM_079161.31  NP_523885.21 


    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
      --

    (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

    10/534 SNPs in GGCX are shown (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
    ----------
    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--------
    rs289288721,2,4
    CCombined deficiency of vitamin K-dependent clotting factors 1 (VKCFD1)4 pathogenic185643133(-) ATCCTC/GGGTGC 4 S W mis10--------
    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 (85771978 - 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 15 diseases for GGCX:    About MalaCards
    vitamin k-dependent clotting factors, combined deficiency of, 1    pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency    vitamin k deficiency hemorrhagic disease    angioid streaks
    hemorrhagic disease    cutis laxa    herpes simplex    deep vein thrombosis
    nephrolithiasis    keratitis    thrombosis    cytochrome p450
    hepatocellular carcinoma    prostate cancer    prostatitis

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

    GGCX for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for GGCX gene, integrated from 9 sources (see all 155):
    (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. (1991)
    2. Genetic mutation of vitamin K-dependent gamma-glutamy l carboxylase domain in patients with calcium oxalate urolithiasis. (PubMed id 19821094)1, 4, 9 Qiao J....Ye Z. (2009)
    3. Genotype polymorphisms of GGCX, NQO1, and VKORC1 gene s associated with risk susceptibility in patients with large-artery atheroscler otic stroke. (PubMed id 20193673)1, 4, 9 Shyu H.Y....Cheng C.W. (2010)
    4. A topological study of the human gamma-glutamyl carboxylase. (PubMed id 10910912)1, 2, 9 Tie J.... Stafford D.W. (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. (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. (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. (2006)
    8. Genetic determinants of acenocoumarol and phenprocoum on maintenance dose requirements. (PubMed id 20020283)1, 4, 9 Cadamuro J....Oberkofler H. (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. (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. (2006)

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

    (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 GGCX 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 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



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    About This Section

     
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