GGCX (gamma-glutamyl carboxylase)

2014-11-01 Affiliation

Identity

HGNC

GGCX

LOCATION

2p11.2

LOCUSID

2677

ALIAS

VKCFD1

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000115486	ENST00000233838	P38435
ENSG00000115486	ENST00000421496	F8WCF0
ENSG00000115486	ENST00000423570	F8WDU9
ENSG00000115486	ENST00000428479	F8WB98
ENSG00000115486	ENST00000430215	P38435

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Ubiquinone and other terpenoid-quinone biosynthesis	KEGG	ko00130
Ubiquinone and other terpenoid-quinone biosynthesis	KEGG	hsa00130
Metabolism of proteins	REACTOME	R-HSA-392499
Post-translational protein modification	REACTOME	R-HSA-597592
Gamma carboxylation, hypusine formation and arylsulfatase activation	REACTOME	R-HSA-163841
Gamma-carboxylation, transport, and amino-terminal cleavage of proteins	REACTOME	R-HSA-159854
Gamma-carboxylation of protein precursors	REACTOME	R-HSA-159740

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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)