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Ggcx Gene Detail
Summary
  • Symbol
    Ggcx
  • Name
    gamma-glutamyl carboxylase
  • Synonyms
    vitamin K-dependent carboxylase
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927655
    NCBI Gene: 56316
  • Gene Overview
    MyGene.info: GGCX
Location & Maps
more
  • Sequence Map
    Chr6:72414308-72430712 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16405 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 32.27 cM, cytoband C3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    GGCX, gamma-glutamyl carboxylase
  • Vertebrate Orthologs
    9
  • Human Ortholog
    GGCX, gamma-glutamyl carboxylase
    Orthology source: HGNC, HomoloGene
  • Synonyms
    VKCFD1
  • Links
    NCBI Gene ID: 2677
    neXtProt AC: NX_P38435

  • Chr Location
    2p12; chr2:85544855-85561534 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human GGCX associations

Human Disease Mouse Models
       Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency   OMIM: 610842
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 1; VKCFD1   OMIM: 277450
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Gene trapped
    1
  • Spontaneous
    1
  • Targeted
    5
  • Transgenic
    1
  • Genomic Mutations
    1 involving Ggcx
  • Incidental Mutations
Approximately 50% of embryos homozygous for a knock-out allele die between E9.5 and E18 while those surviving to term die of massive intra-abdominal hemorrhage shortly after birth with no evidence of ectopic calcification.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000026391 VEGA Gene Model | MGI Sequence Detail 16405 C57BL/6J ±  kb
transcript OTTMUST00000065266 VEGA | MGI Sequence Detail 2929 Not Applicable  
polypeptide OTTMUSP00000032504 VEGA | MGI Sequence Detail 757 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    133 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 11
    Genomic 1
    cDNA 9
    Primer pair 1

    Microarray probesets 4
References
more
  • Summaries
    All 30
    Gene Ontology 3
    Phenotypes 11
  • Earliest
    J:65775 Begley GS, et al., A conserved motif within the vitamin K-dependent carboxylase gene is widely distributed across animal phyla. J Biol Chem. 2000 Nov 17;275(46):36245-9
  • Latest
    J:220213 Shiba S, et al., gamma-Glutamyl carboxylase in osteoblasts regulates glucose metabolism in mice. Biochem Biophys Res Commun. 2014 Oct 24;453(3):350-5

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory