Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9563
Gene name Gene Name - the full gene name approved by the HGNC.
Hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
H6PD
Synonyms (NCBI Gene) Gene synonyms aliases
CORTRD1, G6PDH, GDH, H6PDH
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.22
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387907167 G>A Pathogenic Coding sequence variant, missense variant
rs398122816 G>A Pathogenic Synonymous variant, coding sequence variant, intron variant
rs398122817 C>G Pathogenic Coding sequence variant, 5 prime UTR variant, stop gained
rs398122818 C>- Pathogenic Coding sequence variant, 5 prime UTR variant, frameshift variant
rs606231222 ->ACAGGTGGTTGACCTGTGGCCGGGTCTGA Pathogenic Stop gained, coding sequence variant, inframe indel
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018427 hsa-miR-335-5p Microarray 18185580
MIRT022903 hsa-miR-124-3p Microarray 18668037
MIRT707244 hsa-miR-6732-3p HITS-CLIP 21572407
MIRT707243 hsa-miR-10a-5p HITS-CLIP 21572407
MIRT707242 hsa-miR-10b-5p HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004345 Function Glucose-6-phosphate dehydrogenase activity IBA
GO:0004345 Function Glucose-6-phosphate dehydrogenase activity IDA 18628520, 23132696
GO:0004345 Function Glucose-6-phosphate dehydrogenase activity IEA
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
138090 4795 ENSG00000049239
Protein
UniProt ID O95479
Protein name GDH/6PGL endoplasmic bifunctional protein [Includes: Hexose-6-phosphate dehydrogenase (Glucose 1-dehydrogenase) (GDH) (EC 1.1.1.47) (Glucose-6-phosphate dehydrogenase) (EC 1.1.1.363); 6-phosphogluconolactonase (6PGL) (EC 3.1.1.31)]
Protein function Bifunctional enzyme localized in the lumen of the endoplasmic reticulum that catalyzes the first two steps of the oxidative branch of the pentose phosphate pathway/shunt, an alternative to glycolysis and a major source of reducing power and meta
PDB 8EM2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00479 G6PD_N 29 213 Glucose-6-phosphate dehydrogenase, NAD binding domain Domain
PF02781 G6PD_C 215 515 Glucose-6-phosphate dehydrogenase, C-terminal domain Domain
PF01182 Glucosamine_iso 558 782 Glucosamine-6-phosphate isomerases/6-phosphogluconolactonase Domain
Tissue specificity TISSUE SPECIFICITY: Present in most tissues examined, strongest in liver. {ECO:0000269|PubMed:10349511}.
Sequence
Sequence length 791
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Pentose phosphate pathway
Metabolic pathways
Carbon metabolism
 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cortisone Reductase Deficiency cortisone reductase deficiency 1 rs606231222, rs398122816, rs387907167, rs398122817, rs398122818 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Dermatitis Atopic dermatitis N/A N/A GWAS
Eczema Eczema N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atherosclerosis Associate 21858044
beta Thalassemia Associate 6766754
Breast Neoplasms Associate 29295867, 29682102
Corneal Dystrophy Crystalline of Schnyder Associate 16163269
Cortisone reductase deficiency Associate 18628520, 19935835, 23132696
Fever Inhibit 30909744
Glioblastoma Associate 35441887
Glucosephosphate Dehydrogenase Deficiency Associate 22906047
Hyperandrogenism Associate 26452272
Hyperbilirubinemia Neonatal Associate 22906047