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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
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:73453089-73472486 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 38.00 cM, cytoband A2-A3
  • Mapping Data
    41 experiments
Strain
Comparison
more
  • SNPs within 2kb
    312 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    4
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_105979
 protein coding gene ChrX:73453089-73472800 (-)
129S1/SvImJ MGP_129S1SvImJ_G0035848
 protein coding gene ChrX:70217650-70237564 (-)
A/J MGP_AJ_G0035829
 protein coding gene ChrX:70397504-70422007 (-)
AKR/J MGP_AKRJ_G0035754
 protein coding gene ChrX:72295860-72316746 (-)
BALB/cJ MGP_BALBcJ_G0035814
 protein coding gene ChrX:69422708-69442746 (-)
C3H/HeJ MGP_C3HHeJ_G0035519
 protein coding gene ChrX:70689186-70710204 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036344
 protein coding gene ChrX:72385876-72422237 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033188
 protein coding gene ChrX:69464430-69483561 (-)
CAST/EiJ MGP_CASTEiJ_G0034810
 protein coding gene ChrX:56069245-56089835 (-)
CBA/J MGP_CBAJ_G0035494
 protein coding gene ChrX:74381858-74408639 (-)
DBA/2J MGP_DBA2J_G0035651
 protein coding gene ChrX:69860363-69880142 (-)
FVB/NJ MGP_FVBNJ_G0035595
 protein coding gene ChrX:69202552-69224083 (-)
LP/J MGP_LPJ_G0035736
 protein coding gene ChrX:70987701-71009894 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035633
 protein coding gene ChrX:76934133-76955105 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036366
 protein coding gene ChrX:70031138-70051679 (-)
PWK/PhJ MGP_PWKPhJ_G0034509
 protein coding gene ChrX:54029713-54048552 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034343
 protein coding gene ChrX:56942200-56964208 (-)
WSB/EiJ MGP_WSBEiJ_G0034951
 protein coding gene ChrX:69315761-69335628 (-)



Homology
more
  • Human Ortholog
    G6PD, glucose-6-phosphate dehydrogenase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    G6PD, glucose-6-phosphate dehydrogenase
  • Synonyms
    CNSHA1, G6PD1
  • Links
    NCBI Gene ID: 2539
    neXtProt AC: NX_P11413
    UniProt: P11413

  • Chr Location
    Xq28; chrX:154517825-154547572 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with G6pdx mouse models; 8 with human G6PD associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    36 phenotypes from 3 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    44 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.
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
less
  • All GO Annotations
    67
  • GO References
    31
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    835
  • Tissues
    114
  • cDNA Data
    113
  • Literature Summary
    12
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 14381 NCBI Gene Model | MGI Sequence Detail 19398 C57BL/6J ±  kb
    transcript NM_008062 RefSeq | MGI Sequence Detail 2354 ZRU/MplStud  
    polypeptide Q00612 UniProt | EBI | MGI Sequence Detail 515 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000007749 glucose-6-phosphate 1-dehydrogenase
      (term hierarchy)
    • EC
      1.1.1.49
    • InterPro Domains
      IPR001282 Glucose-6-phosphate dehydrogenase
      IPR019796 Glucose-6-phosphate dehydrogenase, active site
      IPR022675 Glucose-6-phosphate dehydrogenase, C-terminal
      IPR022674 Glucose-6-phosphate dehydrogenase, NAD-binding
      IPR036291 NAD(P)-binding domain superfamily
    • GlyGen
      Q00612 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 131
      Genomic 8
      cDNA 118
      Primer pair 2
      Other 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-10225, MGD-MRK-33659, MGD-MRK-9915
    References
    more
    • Summaries
      All 139
      Developmental Gene Expression 12
      Diseases 3
      Gene Ontology 31
      Phenotypes 44
    • 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:352279 Serna E, et al., Glucose 6-P Dehydrogenase Overexpression Improves Aging-Induced Endothelial Dysfunction in Aorta from Mice: Role of Arginase II. Int J Mol Sci. 2023 Feb 11;24(4)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory