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

GGCX Gene

protein-coding   GIFtS: 62
GCID: GC02M085774

gamma-glutamyl carboxylase

 Explore 15 diseases affiliated with
GGCX via our new
 Human Malady Compendium 
Biological research products
for GGCX
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Gamma-Glutamyl Carboxylase1 2 3     EC 4.1.1.903
VKCFD11 2     GC3
Peptidyl-Glutamate 4-Carboxylase2 3     Vitamin K Gamma Glutamyl Carboxylase3
Vitamin K-Dependent Gamma-Carboxylase2     

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 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:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_022184.15  
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 GC02M085774:  view genomic region     (about GC identifiers)

Start:
85,774,743 bp from pter      End:
85,788,670 bp from pter
Size:
13,928 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P38435

  • GGCX Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Novus Biologicals GGCX Protein
    Novus Biologicals GGCX Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for GGCX

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016020membrane TAS1749935
    GO:0016021integral to membrane IEA--


    GGCX for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    GGCX for domains           About GeneDecksing

    4 InterPro domains/families:
     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 families:
    IPB007782 Vitamin K-dependent gamma-carboxylase
    IPB011020 HTTM


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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GGCX
    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
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    Clone
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    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


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

    Animal Models:
         Mouse knock-out Ggcxtm1Dgi for GGCX
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ggcx):
     cardiovascular system  homeostasis/metabolism  mortality/aging  skeleton 

    GGCX for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Gamma-carboxylation, transport, and amino-terminal cleavage of proteins
    Gamma-carboxylation, transport, and amino-terminal cleavage of proteins1.00
    Warfarin Pathway, Pharmacodynamics0.67
    Gamma-carboxylation of protein precursors0.82
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.15
    3PTM: gamma carboxylation, hypusine formation and arylsulfatase activation
    PTM: gamma carboxylation, hypusine formation and arylsulfatase activation1.00

    Pathway sources
    See GeneCards unified pathways
    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


    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process TAS1749935
    GO:0007596blood coagulation TAS9845520
    GO:0009790embryo development ----
    GO:0017187peptidyl-glutamic acid carboxylation TAS--
    GO:0032571response to vitamin K ----


    GGCX for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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
    Drug/compound PharmGKB Annotation
    warfarinCA  
    About this table

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

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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

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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
    SwitchGear 3'UTR luciferase reporter plasmidGGCX 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GGCX
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GGCX

    Additional cDNA 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 

    24/30 DOTS entries (see all 30):

    DT.95161822  DT.95161823  DT.101960082  DT.40295726  DT.99952533  DT.86853340  DT.95123247  DT.75171568 
    DT.121022921  DT.100878478  DT.121022995  DT.86853339  DT.95375821  DT.121022890  DT.97862448  DT.100646484 
    DT.91689716  DT.121022946  DT.75123054  DT.92043845  DT.95096121  DT.95161821  DT.95355911  DT.97861858 

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

    AI968453 BM808591 AI565796 AI123873 BF223288 BM693901 AW517132 BE741282 
    BM773500 AW152305 BQ919220 CA429638 AI654844 CA427238 CR607119 CF130291 
    BQ940402 AI086133 BE898541 BU682134 BM848085 BM704752 BM763478 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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTCTTAAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    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 5/18 species (see all 18)    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
    --
    75(a)
    1 ↔ 1
    GL343608.1(190913-203020)
    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, UniProtKB, 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

    10/392 NCBI SNPs in GGCX are shown (see all 392    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289288721,2
    Cpathogenic85779042(-) ATCCTG/CGGTGC 4 /S /W mis11Minor allele frequency- C:0.00NA 2
    rs18678801,2
    C,--85668929(-) AGCTGA/GAAGTG 1 -- ut312Minor allele frequency- G:0.00MN NA 186
    rs10501081,2
    C,--85669081(+) ACAGGG/TCAGTA 1 -- ut311Minor allele frequency- T:0.00NA 2
    rs10635031,2
    C--85669540(+) AGGGCA/GGAGCT 1 -- ut310--------
    rs1130664511,2
    --85669837(+) GATCAC/TTTTAA 1 -- ds50011Minor allele frequency- T:0.50CSA 2
    rs621658991,2
    C,F,--85669970(+) TTTAAC/TCTTGA 1 -- ds50016Minor allele frequency- T:0.12NA WA CSA 246
    rs1913472441,2
    C--85771669(+) CAAACC/GTCACC 3 -- ds5001 ut310--------
    rs1931535271,2
    --85771928(+) TCCTTC/TAGAGA 3 -- ds5001 ut310--------
    rs1494954441,2
    --85772217(+) TGGCCA/GTGGAG 3 -- ut310--------
    rs1430217531,2
    --85772468(+) CAACAC/TTTTGA 3 -- ds5001 ut310--------

    HapMap Linkage Disequilibrium report for GGCX (85774743 - 85788670 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for GGCX
         1 CNV: 35863
    Human Gene Mutation Database (HGMD): GGCX

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    (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.)
    About This Section

    GGCX for disorders           About GeneDecksing

    OMIM gene information: 137167   
    OMIM disorders: 277450  610842  
    UniProtKB/Swiss-Prot: VKGC_HUMAN, P38435
  • Defects in GGCX are a cause of combined deficiency of vitamin K-dependent clotting factors type 1 (VKCFD1)
  • [MIM:277450]; also known as multiple coagulation factor deficiency III (MCFD3). VKCFD leads to a bleeding tendency
    that is usually reversed by oral administration of vitamin K
  • Defects in GGCX are the cause of pseudoxanthoma elasticum-like disorder with multiple coagulation factor
  • deficiency (PXEL-MCFD) [MIM:610842]. This syndrome is 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

    15 diseases for GGCX:    About MalaCards
    vitamin k-dependent coagulation defect    pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency    vitamin k-dependent clotting factors    vitamin k deficiency hemorrhagic disease
    angioid streaks    deep vein thrombosis    cutis laxa    urolithiasis
    herpes simplex    hemorrhagic disease    nephrolithiasis    thrombosis
    keratitis    hepatocellular carcinoma    carcinoma

    3 diseases from the University of Copenhagen DISEASES database for GGCX:
    Pseudoxanthoma elasticum     Cutis laxa     Angioid streaks

    4 Novoseek 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 152):
    (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. A topological study of the human gamma-glutamyl carboxylase. (PubMed id 10910912)1, 2, 9 Tie J.... Stafford D.W. (2000)
    3. Compound heterozygous mutations in the gamma-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors. (PubMed id 15287948)1, 2, 9 Rost S.... Oldenburg J. (2004)
    4. Binding of the factor IX gamma-carboxyglutamic acid domain to the vitamin K-dependent gamma-glutamyl carboxylase active site induces an allosteric effect that may ensure processive carboxylation and regulate the release of carboxylated product. (PubMed id 14660587)1, 7, 9 Lin P.J....Stafford D.W. (2004)
    5. Determination of disulfide bond assignment of human vitamin K- dependent gamma-glutamyl carboxylase by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. (PubMed id 12963724)1, 2, 9 Tie J.K....Stafford D.W. (2003)
    6. A novel fluorescence assay to study propeptide interaction with gamma-glutamyl carboxylase. (PubMed id 11570873)1, 2, 9 Presnell S.R.... Stafford D.W. (2001)
    7. Expression and characterization of the naturally occurring mutation L394R in human gamma-glutamyl carboxylase. (PubMed id 10934213)1, 2, 9 Mutucumarana V.P.... Wu S.-M. (2000)
    8. Genomic sequence and transcription start site for the human gamma- glutamyl carboxylase. (PubMed id 9166845)1, 2, 9 Wu S.-M.... Solera J. (1997)
    9. Common genetic variants of microsomal epoxide hydrolase affect warfarin dose requirements beyond the effect of cytochrome P450 2C9. (PubMed id 15900282)1, 4, 9 Loebstein R....Almog S. (2005)
    10. Common VKORC1 and GGCX polymorphisms associated with warfarin dose. (PubMed id 15883587)1, 4, 9 Wadelius M....Deloukas P. (2005)

    (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 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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