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Aliases for H6PD Gene

Aliases for H6PD Gene

  • Hexose-6-Phosphate Dehydrogenase (Glucose 1-Dehydrogenase) 2 3
  • GDH 3 4 6
  • Glucose Dehyrogenase 2 3
  • CORTRD1 3 6
  • G6PDH 3 6
  • Glucose-6-Phosphate Dehydrogenase, Salivary 3
  • GDH/6PGL Endoplasmic Bifunctional Protein 3
  • 6-Phosphogluconolactonase 3
  • Glucose 1- Dehydrogenase 3
  • Glucose Dehydrogenase 3
  • G6PD, H Form 3
  • EC 63
  • EC 63
  • EC 63

External Ids for H6PD Gene

Previous HGNC Symbols for H6PD Gene

  • GDH

Previous GeneCards Identifiers for H6PD Gene

  • GC01P008915
  • GC01P009105
  • GC01P009004
  • GC01P009229
  • GC01P008445

Summaries for H6PD Gene

Entrez Gene Summary for H6PD Gene

  • There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]

GeneCards Summary for H6PD Gene

H6PD (Hexose-6-Phosphate Dehydrogenase (Glucose 1-Dehydrogenase)) is a Protein Coding gene. Diseases associated with H6PD include cortisone reductase deficiency 1 and hyperandrogenism due to cortisone reductase deficiency. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include carbohydrate binding and glucose-6-phosphate dehydrogenase activity. An important paralog of this gene is G6PD.

UniProtKB/Swiss-Prot for H6PD Gene

  • Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates

Gene Wiki entry for H6PD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for H6PD Gene

Genomics for H6PD Gene

Regulatory Elements for H6PD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for H6PD Gene

9,234,764 bp from pter
9,271,337 bp from pter
36,574 bases
Plus strand

Genomic View for H6PD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for H6PD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for H6PD Gene

Proteins for H6PD Gene

  • Protein details for H6PD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    GDH/6PGL endoplasmic bifunctional protein
    Protein Accession:
    Secondary Accessions:
    • Q4TT33
    • Q66I35
    • Q68DT3

    Protein attributes for H6PD Gene

    791 amino acids
    Molecular mass:
    88893 Da
    Quaternary structure:
    No Data Available
    • Sequence=CAH18137.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for H6PD Gene

Proteomics data for H6PD Gene at MOPED

Selected DME Specific Peptides for H6PD Gene

Post-translational modifications for H6PD Gene

  • Glycosylation at Asn157, Asn282, and Asn683
  • Modification sites at PhosphoSitePlus

Other Protein References for H6PD Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Domains for H6PD Gene

Suggested Antigen Peptide Sequences for H6PD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family.
  • In the N-terminal section; belongs to the glucose-6-phosphate dehydrogenase family.
  • In the C-terminal section; belongs to the glucosamine/galactosamine-6-phosphate isomerase family. 6-phosphogluconolactonase subfamily.
genes like me logo Genes that share domains with H6PD: view

No data available for Gene Families for H6PD Gene

Function for H6PD Gene

Molecular function for H6PD Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Beta-D-glucose + NAD(P)(+) = D-glucono-1,5-lactone + NAD(P)H.
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucose 6-phosphate + NAD(P)(+) = D-glucono-1,5-lactone 6-phosphate + NAD(P)H
UniProtKB/Swiss-Prot CatalyticActivity:
6-phospho-D-glucono-1,5-lactone + H(2)O = 6-phospho-D-gluconate
UniProtKB/Swiss-Prot Function:
Oxidizes glucose-6-phosphate and glucose, as well as other hexose-6-phosphates

Enzyme Numbers (IUBMB) for H6PD Gene

Gene Ontology (GO) - Molecular Function for H6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004345 glucose-6-phosphate dehydrogenase activity IEA --
GO:0017057 6-phosphogluconolactonase activity IEA --
GO:0030246 carbohydrate binding --
GO:0047936 glucose 1-dehydrogenase [NAD(P)] activity IEA --
GO:0050661 NADP binding IEA --
genes like me logo Genes that share ontologies with H6PD: view
genes like me logo Genes that share phenotypes with H6PD: view

Animal Models for H6PD Gene

MGI Knock Outs for H6PD:

Animal Model Products

miRNA for H6PD Gene

miRTarBase miRNAs that target H6PD

No data available for Transcription Factor Targets and HOMER Transcription for H6PD Gene

Localization for H6PD Gene

Subcellular locations from UniProtKB/Swiss-Prot for H6PD Gene

Endoplasmic reticulum lumen. Note=Microsomes, endoplasmic reticulum lumen.

Subcellular locations from

Jensen Localization Image for H6PD Gene COMPARTMENTS Subcellular localization image for H6PD gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
mitochondrion 2
lysosome 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for H6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm --
GO:0005739 mitochondrion --
GO:0005783 endoplasmic reticulum --
GO:0005788 endoplasmic reticulum lumen IEA --
GO:0043231 intracellular membrane-bounded organelle --
genes like me logo Genes that share ontologies with H6PD: view

Pathways for H6PD Gene

genes like me logo Genes that share pathways with H6PD: view

Pathways by source for H6PD Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for H6PD Gene

Gene Ontology (GO) - Biological Process for H6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process --
GO:0006006 glucose metabolic process IEA --
GO:0006098 pentose-phosphate shunt IEA --
GO:0006739 NADP metabolic process --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with H6PD: view

Drugs for H6PD Gene

(1) Drugbank Compounds for H6PD Gene

Compound Status Synonyms Cas Number PubChem ID Type Actions PubMed IDs
  • 1,4-dihydronicotinamide adenine dinucleotide
606-68-8 439153 Target nutraceutical

(13) HMDB Compounds for H6PD Gene

Compound Synonyms Cas Number PubMed IDs
6-Phosphogluconic acid
  • 6-O-Phosphono-D-gluconic acid
  • 6-(Dihydrogen phosphate)-(8CI)-D-Gluconic acid delta-lactone
  • b-D-Glucopyranose
Beta-D-Glucose 6-phosphate
  • beta-D-Glucose 6-(dihydrogen phosphate)
  • 1,5-D-Gluconolactone

(93) Novoseek inferred chemical compound relationships for H6PD Gene

Compound -log(P) Hits PubMed IDs
glucose 6-phosphate 92.9 104
11beta-hydroxysteroid 86.2 29
pyrroloquinoline quinone 85.9 12
o-ethylhydroxylamine 80.2 1
cortisone 78.6 12
genes like me logo Genes that share compounds with H6PD: view

Transcripts for H6PD Gene

Unigene Clusters for H6PD Gene

Hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for H6PD Gene

No ASD Table

Relevant External Links for H6PD Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for H6PD Gene

mRNA expression in normal human tissues for H6PD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for H6PD Gene

This gene is overexpressed in Liver (5.4).

Protein differential expression in normal tissues for H6PD Gene

This gene is overexpressed in Liver (8.3), Ovary (6.0), and Serum (6.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for H6PD Gene

SOURCE GeneReport for Unigene cluster for H6PD Gene Hs.463511

mRNA Expression by UniProt/SwissProt for H6PD Gene

Tissue specificity: Present in most tissues examined, strongest in liver
genes like me logo Genes that share expressions with H6PD: view

Expression partners for H6PD Gene

* - Elite partner

Primer Products

In Situ Assay Products

Orthologs for H6PD Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for H6PD Gene

Organism Taxonomy Gene Similarity Type Details
(Canis familiaris)
Mammalia H6PD 35
  • 86.84 (n)
  • 84.99 (a)
H6PD 36
  • 84 (a)
(Mus musculus)
Mammalia H6pd 35
  • 83.8 (n)
  • 83.63 (a)
H6pd 16
H6pd 36
  • 83 (a)
(Pan troglodytes)
Mammalia H6PD 35
  • 99.09 (n)
  • 98.88 (a)
H6PD 36
  • 99 (a)
(Rattus norvegicus)
Mammalia H6pd 35
  • 83.33 (n)
  • 83.08 (a)
(Bos Taurus)
Mammalia H6PD 36
  • 83 (a)
(Monodelphis domestica)
Mammalia H6PD 36
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 70 (a)
-- 36
  • 81 (a)
-- 36
  • 77 (a)
(Gallus gallus)
Aves H6PD 35
  • 70.61 (n)
  • 69.85 (a)
H6PD 36
  • 69 (a)
(Anolis carolinensis)
Reptilia H6PD 36
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia h6pd 35
  • 60.2 (n)
  • 60.59 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.30186 35
(Danio rerio)
Actinopterygii h6pd 35
  • 56.51 (n)
  • 53.91 (a)
h6pd 36
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7140 36
  • 23 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ZWF1 36
  • 28 (a)
Species with no ortholog for H6PD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for H6PD Gene

Gene Tree for H6PD (if available)
Gene Tree for H6PD (if available)

Paralogs for H6PD Gene

Paralogs for H6PD Gene

(2) SIMAP similar genes for H6PD Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with H6PD: view

Variants for H6PD Gene

Sequence variations from dbSNP and Humsavar for H6PD Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs9435163 -- 9,271,218(+) CGGGA(G/T)CCACC utr-variant-3-prime
rs9435164 -- 9,271,272(+) TTTTT(A/T)AAATG utr-variant-3-prime
rs12082862 -- 9,256,588(+) GCCAT(A/G)GACCC intron-variant
rs12118991 -- 9,262,170(+) CAGTG(C/T)GGAGG reference, missense
rs12403063 -- 9,236,649(+) gggtg(A/C)caaag intron-variant

Structural Variations from Database of Genomic Variants (DGV) for H6PD Gene

Variant ID Type Subtype PubMed ID
nsv832092 CNV Loss 17160897
nsv871755 CNV Loss 21882294
esv2743563 CNV Deletion 23290073
dgv2e55 CNV Gain 17911159
esv23318 CNV Loss 19812545
dgv131n71 CNV Gain 21882294
dgv3n27 CNV Gain 19166990
nsv520191 CNV Gain 19592680
esv2750845 CNV Gain 17911159

Relevant External Links for H6PD Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for H6PD Gene

Disorders for H6PD Gene

(1) OMIM Diseases for H6PD Gene (138090)


  • Cortisone reductase deficiency (CRD) [MIM:604931]: In CRD, activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin-mediated androgen excess and a phenotype resembling polycystic ovary syndrome (PCOS). {ECO:0000269 PubMed:12858176, ECO:0000269 PubMed:23132696}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(31) Novoseek inferred disease relationships for H6PD Gene

Disease -log(P) Hits PubMed IDs
cortisone reductase deficiency 94 9
enzymopathy 64.5 4
g6pd deficiency 33.7 1
polycystic ovary syndrome 23.3 2
insulin resistance 22.8 1

Relevant External Links for H6PD

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with H6PD: view

No data available for University of Copenhagen DISEASES and Genatlas for H6PD Gene

Publications for H6PD Gene

  1. Human hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) encoded at 1p36: coding sequence and expression. (PMID: 10349511) Mason P.J. … Vulliamy T.J. (Blood Cells Mol. Dis. 1999) 2 3 4 23
  2. Genotypes at 11beta-hydroxysteroid dehydrogenase type 11B1 and hexose-6-phosphate dehydrogenase loci are not risk factors for apparent cortisone reductase deficiency in a large population-based sample. (PMID: 16091483) White P.C. (J. Clin. Endocrinol. Metab. 2005) 3 23 48
  3. Hexose-6-phosphate dehydrogenase: a new risk gene for multiple sclerosis. (PMID: 19935835) Alcina A. … Matesanz F. (Eur. J. Hum. Genet. 2010) 3 23 48
  4. Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. (PMID: 12858176) Draper N. … Stewart P.M. (Nat. Genet. 2003) 3 4 23
  5. Lack of Association of the 11beta-hydroxysteroid dehydrogenase type 1 gene 83,557insA and hexose-6-phosphate dehydrogenase gene R453Q polymorphisms with body composition, adrenal androgen production, blood pressure, glucose metabolism, and dementia. (PMID: 17062770) Smit P. … Lamberts S.W. (J. Clin. Endocrinol. Metab. 2007) 3 23 48

Products for H6PD Gene

Sources for H6PD Gene

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