Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 2677
MIM: 137167
HGNC: 4247
Ensembl: ENSG00000115486
Variants:
dbSNP: 2677
ClinVar: 2677
TCGA: ENSG00000115486
COSMIC: GGCX
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA126 | CYP2C9 | Gene | DataAnnotation | associated | |||
| PA133787052 | VKORC1 | Gene | DataAnnotation | associated | |||
| PA157 | F2 | Gene | Pathway | associated | |||
| PA160 | F7 | Gene | Pathway | associated | |||
| PA25345 | BGLAP | Gene | Pathway | associated | |||
| PA26047 | CALU | Gene | Pathway | associated | |||
| PA27121 | CYP4F2 | Gene | DataAnnotation | associated | |||
| PA27940 | F10 | Gene | Pathway | associated | |||
| PA27954 | F9 | Gene | Pathway | associated | |||
| PA28582 | GAS6 | Gene | Pathway | associated | |||
| PA30790 | MGP | Gene | Pathway | associated | |||
| PA33799 | PROC | Gene | Pathway | associated | |||
| PA33809 | PROS1 | Gene | Pathway | associated | |||
| PA33813 | PROZ | Gene | Pathway | associated | |||
| PA443459 | Atrial Fibrillation | Disease | ClinicalAnnotation | associated | PD | ||
| PA444417 | Hemorrhage | Disease | MultilinkAnnotation | associated | 19141161 | ||
| PA451906 | warfarin | Chemical | ClinicalAnnotation, DataAnnotation, VariantAnnotation | ambiguous | PK | PD | 15883587, 17049586, 17764537, 19582440, 19794411, 20694283, 21195460, 21326313, 22549502, 22676192, 24019055, 25042728, 25126975, 25681132, 26106580, 26257249, 26751406, 27262824, 28049362, 28429387, 29432897 |
| PA452632 | acenocoumarol | Chemical | ClinicalAnnotation, DataAnnotation | associated | PK | PD | 24927344, 25042728, 25519826, 29432897 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37653796 | 2023 | Association among VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 polymorphisms and acute ischemic stroke. | 0 |
| 37653796 | 2023 | Association among VKORC1 rs9923231, CYP4F2 rs2108622, GGCX rs11676382 polymorphisms and acute ischemic stroke. | 0 |
| 34816548 | 2022 | GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients. | 1 |
| 35773773 | 2022 | [Partial research progress of GGCX pathogenic variation associated phenotypes]. | 0 |
| 34816548 | 2022 | GGCX variants leading to biallelic deficiency to γ-carboxylate GRP cause skin laxity in VKCFD1 patients. | 1 |
| 35773773 | 2022 | [Partial research progress of GGCX pathogenic variation associated phenotypes]. | 0 |
| 32808310 | 2021 | Pseudoxanthoma elasticum-like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma-glutamyl carboxylase gene mutation. | 1 |
| 33507293 | 2021 | γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins. | 10 |
| 32808310 | 2021 | Pseudoxanthoma elasticum-like syndrome with coagulation deficiency associated with carotid artery hypoplasia and a novel gamma-glutamyl carboxylase gene mutation. | 1 |
| 33507293 | 2021 | γ-Glutamyl carboxylase mutations differentially affect the biological function of vitamin K-dependent proteins. | 10 |
| 31009158 | 2019 | Exon 2 skipping eliminates γ-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency. | 2 |
| 31539109 | 2019 | Effect of GGCX on the differentiation function of osteoporosis bone marrow mesenchymal stem cells through regulating TGFβ/smad signaling pathway. | 7 |
| 31009158 | 2019 | Exon 2 skipping eliminates γ-glutamyl carboxylase activity, indicating a partial splicing defect in a patient with vitamin K clotting factor deficiency. | 2 |
| 31539109 | 2019 | Effect of GGCX on the differentiation function of osteoporosis bone marrow mesenchymal stem cells through regulating TGFβ/smad signaling pathway. | 7 |
| 28125048 | 2017 | GGCX-Associated Phenotypes: An Overview in Search of Genotype-Phenotype Correlations. | 13 |
Citation
Dessen P
GGCX (gamma-glutamyl carboxylase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/63767/ggcx-(gamma-glutamyl-carboxylase)
