Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2677
Gene name Gene Name - the full gene name approved by the HGNC.
Gamma-glutamyl carboxylase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GGCX
Synonyms (NCBI Gene) Gene synonyms aliases
VKCFD1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
VKCFD1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an integral membrane protein of the rough endoplasmic reticulum that carboxylates glutamate residues of vitamin K-dependent proteins to gamma carboxyl glutamate, a modification that is required for their activity. The vitamin K-dependent
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs11676382 C>G Drug-response Intron variant, genic downstream transcript variant
rs28928872 C>G Pathogenic Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs121909675 A>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909676 C>A,G,T Pathogenic Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
rs121909677 A>G Pathogenic Non coding transcript variant, missense variant, coding sequence variant, genic downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT657874 hsa-miR-3974 HITS-CLIP 23313552
MIRT703305 hsa-miR-6849-3p HITS-CLIP 23313552
MIRT703304 hsa-miR-3190-5p HITS-CLIP 23313552
MIRT703303 hsa-miR-4786-5p HITS-CLIP 23313552
MIRT703302 hsa-miR-769-5p HITS-CLIP 23313552
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0006464 Process Cellular protein modification process TAS 1749935
GO:0007596 Process Blood coagulation TAS 9845520
GO:0008488 Function Gamma-glutamyl carboxylase activity IBA 21873635
GO:0008488 Function Gamma-glutamyl carboxylase activity TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
137167 4247 ENSG00000115486
Protein
UniProt ID P38435
Protein name Vitamin K-dependent gamma-carboxylase (EC 4.1.1.90) (Gamma-glutamyl carboxylase) (Peptidyl-glutamate 4-carboxylase) (Vitamin K gamma glutamyl carboxylase)
Protein 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 (PubMed:17073445). C
PDB 9BUM , 9BUR , 9BUX , 9BVK , 9BVL , 9BVM , 9BVO , 9BVP , 9BVQ , 9BVR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05090 VKG_Carbox 66 504 Vitamin K-dependent gamma-carboxylase Family
Sequence
MAVSAGSARTSPSSDKVQKDKAELISGPRQDSRIGKLLGFEWTDLSSWRRLVTLLNRPTD
PASLAVFRFLFGFLMVLDIPQERGLSSLDRKYLDGLDVCRFPLLDALRPLPLDWMYLVYT
IMFLGALGMMLGLCYRISCVLFLLPYWYVFLLDKTSWNNHSYLYGLLAFQLTFMDANHYW
SVDGLLNAHRRNAHVPLWNYAVLRGQIFIVYFIAGVKKLDADWVEGYSMEYLSRHWLFSP
FKLLLSEELTSLLVVHWGGLLLDLSAGFLLFFDVSRSIGLFFVSYFHCMNSQLFSIGMFS
YVMLASSPLFCSPEWPRKLVSYCPRRLQQLLPLKAAPQPSVSCVYKRSRGKSGQKPGLRH
QLGAAFTLLYLLEQLFLPYSHFLTQGYNNWTNGLYGYSWDMMVHSRSHQHVKITYRDGRT
GELGYLNPGVFTQSRRWKDHADMLKQYATCLSRLLPKYNVTEPQIYFDIWVSINDRFQQR
IFDPRVDIVQAAWSPFQRTSWVQP
LLMDLSPWRAKLQEIKSSLDNHTEVVFIADFPGLHL
ENFVSEDLGNTSIQLLQGEVTVELVAEQKNQTLREGEKMQLPAGEYHKVYTTSPSPSCYM
YVYVNTTELALEQDLAYLQELKEKVENGSETGPLPPELQPLLEGEVKGGPEPTPLVQTFL
RRQQRLQEIERRRNTPFHERFFRFLLRKLYVFRRSFLMTCISLRNLILGRPSLEQLAQEV
TYANLRPFEAVGELNPSNTDSSHSNPPESNPDPVHSEF
Sequence length 758
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Ubiquinone and other terpenoid-quinone biosynthesis
Metabolic pathways
Biosynthesis of cofactors
  Gamma-carboxylation of protein precursors
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Body skin hyperlaxity Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency rs121909677, rs121909678, rs121909679, rs121909680, rs121909681, rs121909682, rs121909683
Combined deficiency of vitamin k-dependent clotting factors VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, Hereditary combined deficiency of vitamin K-dependent clotting factors rs72547528, rs121909675, rs28928872, rs121909676, rs786205096 15287948, 10934213, 11071668, 16720838, 21435120, 9845520
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 28714975, 26343387
Cutis laxa Cutis Laxa rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811
View all (31 more)
Unknown
Disease term Disease name Evidence References Source
Atherosclerosis Atherosclerosis ClinVar
Combined Deficiency Of Vitamin K-Dependent Clotting Factors vitamin K-dependent clotting factors, combined deficiency of, type 1 GenCC
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa GenCC
Pulmonary arterial hypertension pulmonary arterial hypertension GenCC
Associations from Text Mining
Disease Name Relationship Type References
Angioid Streaks Associate 33000479
Arthritis Inhibit 32608581
Atrial Fibrillation Associate 24148610
Blood Coagulation Disorders Associate 33000479
Blood Coagulation Disorders Inherited Associate 28494010
Bone Diseases Associate 18079608
Calcinosis Associate 28494010
Carcinoma Hepatocellular Associate 19383345
Cardiovascular Diseases Associate 37653796
Cartilage Diseases Associate 32608581