GGCX (gamma-glutamyl carboxylase)

2014-11-01  

Identity

HGNC
LOCATION
2p11.2
LOCUSID
ALIAS
VKCFD1
FUSION GENES

Other Information

Locus ID:

NCBI: 2677
MIM: 137167
HGNC: 4247
Ensembl: ENSG00000115486

Variants:

dbSNP: 2677
ClinVar: 2677
TCGA: ENSG00000115486
COSMIC: GGCX

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115486ENST00000233838P38435
ENSG00000115486ENST00000421496F8WCF0
ENSG00000115486ENST00000423570F8WDU9
ENSG00000115486ENST00000428479F8WB98
ENSG00000115486ENST00000430215P38435

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Ubiquinone and other terpenoid-quinone biosynthesisKEGGko00130
Ubiquinone and other terpenoid-quinone biosynthesisKEGGhsa00130
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activationREACTOMER-HSA-163841
Gamma-carboxylation, transport, and amino-terminal cleavage of proteinsREACTOMER-HSA-159854
Gamma-carboxylation of protein precursorsREACTOMER-HSA-159740

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA126CYP2C9GeneDataAnnotationassociated
PA133787052VKORC1GeneDataAnnotationassociated
PA157F2GenePathwayassociated
PA160F7GenePathwayassociated
PA25345BGLAPGenePathwayassociated
PA26047CALUGenePathwayassociated
PA27121CYP4F2GeneDataAnnotationassociated
PA27940F10GenePathwayassociated
PA27954F9GenePathwayassociated
PA28582GAS6GenePathwayassociated
PA30790MGPGenePathwayassociated
PA33799PROCGenePathwayassociated
PA33809PROS1GenePathwayassociated
PA33813PROZGenePathwayassociated
PA443459Atrial FibrillationDiseaseClinicalAnnotationassociatedPD
PA444417HemorrhageDiseaseMultilinkAnnotationassociated19141161
PA451906warfarinChemicalClinicalAnnotation, DataAnnotation, VariantAnnotationambiguousPKPD15883587, 17049586, 17764537, 19582440, 19794411, 20694283, 21195460, 21326313, 22549502, 22676192, 24019055, 25042728, 25126975, 25681132, 26106580, 26257249, 26751406, 27262824, 28049362, 28429387, 29432897
PA452632acenocoumarolChemicalClinicalAnnotation, DataAnnotationassociatedPKPD24927344, 25042728, 25519826, 29432897

References

Pubmed IDYearTitleCitations
158835872005Common VKORC1 and GGCX polymorphisms associated with warfarin dose.115
158835872005Common VKORC1 and GGCX polymorphisms associated with warfarin dose.115
170480072007Association of warfarin dose with genes involved in its action and metabolism.100
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
170495862007Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients.39
170495862007Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients.39
188001492009Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.39
197944112010Genetic factors (VKORC1, CYP2C9, EPHX1, and CYP4F2) are predictor variables for warfarin response in very elderly, frail inpatients.38
166760682006The influence of sequence variations in factor VII, gamma-glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement.34
199422602010Impact of VKORC1 gene polymorphism on interindividual and interethnic warfarin dosage requirement--a systematic review and meta analysis.30

Citation

Dessen P

GGCX (gamma-glutamyl carboxylase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63767/ggcx