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G6pdx Gene Detail
Summary
  • Symbol
    G6pdx
  • Name
    glucose-6-phosphate dehydrogenase X-linked
  • Synonyms
    G28A, G6pd, Gpdx
  • Feature Type
    protein coding gene
  • IDs
    MGI:105979
    NCBI Gene: 14381
Location & Maps
more
  • Sequence Map
    ChrX:74409483-74429194 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      19712 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 38.00 cM, cytoband A2-A3
  • Mapping Data
    41 experiments
Homology
more
  • Human Ortholog
    G6PD, glucose-6-phosphate dehydrogenase
  • Vertebrate Orthologs
    8
  • Human Ortholog
    G6PD, glucose-6-phosphate dehydrogenase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    G6PD1
  • Links
    NCBI Gene ID: 2539
    neXtProt AC: NX_P11413

  • Chr Location
    Xq28; chrX:154531390-154547586 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human G6PD associations

Human Disease Mouse Models
       Anemia, Nonspherocytic Hemolytic, Due to G6pd Deficiency   OMIM: 300908
Favism, Susceptibility to   OMIM: 134700
Malaria, Susceptibility to   OMIM: 611162
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 3 alleles in 3 genetic backgrounds
    31 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
    7
  • Chemically induced (ENU)
    1
  • Gene trapped
    2
  • Radiation induced
    1
  • Targeted
    3
Null mutants show placental defects and arrest developmentally; hemizygous males dying by day 10.5 and heterozygous females by day 11.5 with the normal X selectively inactive. Hypomorphic mutants show increased mutagenesis and oxidative stress in spleen.
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
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017699 VEGA Gene Model | MGI Sequence Detail 19712 C57BL/6J ±  kb
transcript OTTMUST00000042897 VEGA | MGI Sequence Detail 2652 Not Applicable  
polypeptide OTTMUSP00000019282 VEGA | MGI Sequence Detail 515 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    65 from dbSNP Build 142
  • RFLP
Protein
Information
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Molecular
Reagents
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  • All nucleic 129
    Genomic 8
    cDNA 117
    Primer pair 1
    Other 3

    Microarray probesets 3
Other
Accession IDs
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MGD-MRK-10225, MGD-MRK-33659, MGD-MRK-9915
References
more
  • Summaries
    All 109
    Developmental Gene Expression 7
    Gene Ontology 25
    Phenotypes 31
  • Earliest
    J:5105 Ruddle FH, et al., Allelically-determined isozyme polymorphisms in laboratory populations of mice. Ann N Y Acad Sci. 1968 Jun 14;151(1):531-9
  • Latest
    J:232922 Lakhkar A, et al., 20-HETE-induced mitochondrial superoxide production and inflammatory phenotype in vascular smooth muscle is prevented by glucose-6-phosphate dehydrogenase inhibition. Am J Physiol Heart Circ Physiol. 2016 May 1;310(9):H1107-17

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
11/29/2016
MGI 6.06
The Jackson Laboratory