Gene Gene information from NCBI Gene database.
Entrez ID 2677
Gene name Gamma-glutamyl carboxylase
Gene symbol GGCX
Synonyms (NCBI Gene)
VKCFD1
Chromosome 2
Chromosome location 2p11.2
Summary 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.
13
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.
904
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005788 Component Endoplasmic reticulum lumen IEA
GO:0005789 Component Endoplasmic reticulum membrane IDA 10910912
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005789 Component Endoplasmic reticulum membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
137167 4247 ENSG00000115486
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
46
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Likely pathogenic; Pathogenic rs779018917, rs121909677, rs121909678, rs121909679, rs121909680, rs121909681, rs121909682, rs121909683, rs753122975, rs575528363, rs1691965570 RCV004763278
RCV000017583
RCV000017584
RCV000017585
RCV000017586
View all (6 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
GGCX - Related Disorders Pathogenic; Likely pathogenic rs750767043, rs121909683 RCV005250330
RCV005249990
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
GGCX-related disorder Likely pathogenic; Pathogenic rs748892794, rs564812596, rs1558806955 RCV003407855
RCV003404132
RCV003404500
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Vitamin K-dependent clotting factors, combined deficiency of, type 1 Likely pathogenic; Pathogenic rs768019203, rs121909675, rs28928872, rs121909676, rs786205096, rs121909683, rs753122975, rs1691898752, rs1692107154 RCV002227680
RCV000017578
RCV000017579
RCV000017581
RCV000017582
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal bleeding Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLOOD COAGULATION DISORDERS CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Angioid Streaks Angioid streaks HPO_DG
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 32608581 Inhibit
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 24148610
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 24148610 Associate
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 10934213, 26758921
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders Blood Coagulation Disorders CTD_human_DG 19141161
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders Blood coagulation disorder Pubtator 33000479 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Blood Coagulation Disorders Inherited Blood coagulation disorder Pubtator 28494010 Associate
★☆☆☆☆
Found in Text Mining only
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body Skin Hyperlaxity Orphanet
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)