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G6PD Gene(Protein Coding)

Glucose-6-Phosphate Dehydrogenase

GCID:
GC0XM154531
GIFtS:
59
Genes Participants
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Aliases for G6PD Gene

Aliases for G6PD Gene

  • Glucose-6-Phosphate Dehydrogenase 2 3 5
  • EC 1.1.1.49 4 56
  • Glucose-6-Phosphate 1-Dehydrogenase 3
  • G6PD1 3

External Ids for G6PD Gene

Previous GeneCards Identifiers for G6PD Gene

  • GC0XM147822
  • GC0XM150140
  • GC0XM151344
  • GC0XM152227
  • GC0XM153323
  • GC0XM153412
  • GC0XM153759
  • GC0XM142336

Summaries for G6PD Gene

Entrez Gene Summary for G6PD Gene

  • This gene encodes glucose-6-phosphate dehydrogenase. This protein is a cytosolic enzyme encoded by a housekeeping X-linked gene whose main function is to produce NADPH, a key electron donor in the defense against oxidizing agents and in reductive biosynthetic reactions. G6PD is remarkable for its genetic diversity. Many variants of G6PD, mostly produced from missense mutations, have been described with wide ranging levels of enzyme activity and associated clinical symptoms. G6PD deficiency may cause neonatal jaundice, acute hemolysis, or severe chronic non-spherocytic hemolytic anemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for G6PD Gene

G6PD (Glucose-6-Phosphate Dehydrogenase) is a Protein Coding gene. Diseases associated with G6PD include Anemia, Nonspherocytic Hemolytic, Due To G6pd Deficiency and Glucosephosphate Dehydrogenase Deficiency. Among its related pathways are Glycosaminoglycan metabolism and Pentose phosphate pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and carbohydrate binding. An important paralog of this gene is H6PD.

UniProtKB/Swiss-Prot for G6PD Gene

  • Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis.

Gene Wiki entry for G6PD Gene

PharmGKB "VIP" Summary for G6PD Gene

Additional gene information for G6PD Gene

No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for G6PD Gene

Genomics for G6PD Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for G6PD Gene

Promoters and enhancers for G6PD Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH0XI154544 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.8 774 4.5 PKNOX1 ATF1 ARID4B SIN3A DMAP1 BRCA1 ZNF48 E2F8 ELK1 ATF7 IKBKG G6PD SNORA56 HCFC1 DKC1 FAM3A MTCP1
GH0XI154505 Enhancer 0.3 ENCODE 13 +41.5 41505 1.2 ZIC2 FAM3A IKBKG G6PD LAGE3 FAM50A GDI1 ATP6AP1 CH17-340M24.3 RENBP GC0XM154496
GH0XI154540 Promoter/Enhancer 1.8 EPDnew FANTOM5 ENCODE 0.4 +5.2 5248 3.7 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B ZNF766 IKBKG FAM3A F8A1 F8A2 GAB3 MECP2 MPP1 EMD DNASE1L1 IRAK1
GH0XI154534 Enhancer 1 ENCODE 0.4 +12.6 12644 1.3 HDGF SMAD1 ARNT ARID4B SIN3A ZNF2 IRF4 ZNF48 ZNF121 GLIS2 GC0XM154533 FAM3A IKBKG G6PD
GH0XI154530 Enhancer 0.4 ENCODE 0.4 +16.0 16017 1.7 POLR2A SUPT5H FAM3A GC0XM154533 ENSG00000261773 G6PD
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around G6PD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the G6PD gene promoter:

Genomic Locations for G6PD Gene

Genomic Locations for G6PD Gene
chrX:154,531,390-154,547,586
(GRCh38/hg38)
Size:
16,197 bases
Orientation:
Minus strand
chrX:153,759,606-153,775,787
(GRCh37/hg19)

Genomic View for G6PD Gene

Genes around G6PD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
G6PD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for G6PD Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for G6PD Gene

Proteins for G6PD Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for G6PD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P11413-G6PD_HUMAN
    Recommended name:
    Glucose-6-phosphate 1-dehydrogenase
    Protein Accession:
    P11413
    Secondary Accessions:
    • D3DWX9
    • Q16000
    • Q16765
    • Q8IU70
    • Q8IU88
    • Q8IUA6
    • Q96PQ2

    Protein attributes for G6PD Gene

    Size:
    515 amino acids
    Molecular mass:
    59257 Da
    Quaternary structure:
    • Homotetramer; dimer of dimers. Interacts with SIRT2; the interaction is enhanced by H(2)O(2) treatment.
    Miscellaneous:
    • Binds two molecules of NADP. The first one is a cosubstrate (bound to the N-terminal domain), the second is bound to the C-terminal domain and functions as a structural element.
    SequenceCaution:
    • Sequence=AAA63175.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for G6PD Gene

    Alternative splice isoforms for G6PD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for G6PD Gene

Protein Expression for G6PD Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for G6PD Gene

P11413:
  • PDAYERL
  • GRGGYFD
  • QIYRIDH
  • IFTPLLH
  • EAWRIFTP
  • LFYLALPP
  • LNERKAEVR
  • TFKEPFGT
  • YEGTYKWVNPH
  • MMTKKPGMFFNPEESELDLTYGN
  • IYPTIWWLF
  • AYERLILDVFCG
  • GYLDDPTV
  • IVEKPFG
  • GVPFILRCGK
  • VQNLMVLRF
  • RIDHYLGKE
  • NRIFGPIWNRDNIACVI
  • NELVIRVQP
  • RNSYVAGQYD
  • FKATPEE
  • LNSHMNALH
  • DVMQNHLLQ
  • RDEKVKVL
  • LSNHISSLF
  • EKPFGRD
  • LVAMEKP
  • GASGDLAK

Post-translational modifications for G6PD Gene

  • Acetylated by ELP3 at Lys-403; acetylation inhibits its homodimerization and enzyme activity. Deacetylated by SIRT2 at Lys-403; deacetylation stimulates its enzyme activity.
  • Ubiquitination at posLast=9797, posLast=171171, and isoforms=3, 2403

Other Protein References for G6PD Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for G6PD Gene

Gene Families for G6PD Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for G6PD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for G6PD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P11413

UniProtKB/Swiss-Prot:

G6PD_HUMAN :
  • Belongs to the glucose-6-phosphate dehydrogenase family.
Family:
  • Belongs to the glucose-6-phosphate dehydrogenase family.
genes like me logo Genes that share domains with G6PD: view

Function for G6PD Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for G6PD Gene

GENATLAS Biochemistry:
glucose-6-phosphate dehydrogenase,dimer,or tetramer of a 59.3kDa subunit,cytosolic,ubiquitously expressed,first step of pentose phosphate,pathway mainly involved in the defense against oxidizing agents through NADPH production,pentose phosphate pathway
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=7.07 uM for NADP {ECO:0000269 PubMed:15858258}; KM=52 uM for glucose 6-phosphate {ECO:0000269 PubMed:15858258};
UniProtKB/Swiss-Prot CatalyticActivity:
D-glucose 6-phosphate + NADP(+) = 6-phospho-D-glucono-1,5-lactone + NADPH.
UniProtKB/Swiss-Prot Function:
Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis.

Enzyme Numbers (IUBMB) for G6PD Gene

Phenotypes From GWAS Catalog for G6PD Gene

Gene Ontology (GO) - Molecular Function for G6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004345 glucose-6-phosphate dehydrogenase activity IMP 743300
GO:0005515 protein binding IPI 21157431
GO:0005536 glucose binding IMP 5643703
GO:0016491 oxidoreductase activity IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with G6PD: view
genes like me logo Genes that share phenotypes with G6PD: view

Human Phenotype Ontology for G6PD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for G6PD Gene

MGI Knock Outs for G6PD:

Animal Model Products

Clone Products

  • Addgene plasmids for G6PD

No data available for Transcription Factor Targets and HOMER Transcription for G6PD Gene

Localization for G6PD Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for G6PD gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
nucleus 3
cytoskeleton 2
mitochondrion 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Microtubule organizing center (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for G6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS,IDA --
GO:0009898 cytoplasmic side of plasma membrane IDA 743300
GO:0016020 membrane IDA,HDA 19946888
genes like me logo Genes that share ontologies with G6PD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for G6PD Gene

Pathways & Interactions for G6PD Gene

genes like me logo Genes that share pathways with G6PD: view

UniProtKB/Swiss-Prot P11413-G6PD_HUMAN

  • Pathway: Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose 6-phosphate (oxidative stage): step 1/3.

SIGNOR curated interactions for G6PD Gene

Is activated by:

Gene Ontology (GO) - Biological Process for G6PD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006006 glucose metabolic process IEA --
GO:0006098 pentose-phosphate shunt TAS,IDA --
GO:0006629 lipid metabolic process TAS 17361089
GO:0006695 cholesterol biosynthetic process IMP 12027950
genes like me logo Genes that share ontologies with G6PD: view

Drugs & Compounds for G6PD Gene

Products:

  1. Drug

(119) Drugs for G6PD Gene - From: DrugBank, PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
chloroquine Approved, Investigational, Vet_approved Pharma Agonist 154
Primaquine Approved Pharma 80
Glycolic acid Approved, Investigational Pharma Target 19
Methylene blue Approved, Investigational Pharma 111
Artesunate Approved, Investigational Pharma 190

(80) Additional Compounds for G6PD Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
nadph
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
 53-57-6
6-Phosphonoglucono-D-lactone
  • 6-(Dihydrogen phosphate)-(8CI)-D-Gluconic acid delta-lactone
  • 6-(Dihydrogen phosphate)-(9CI)-D-Gluconic acid delta-lactone
  • 6-(Dihydrogen phosphate)-D-Gluconic acid delta-lactone
  • 6-Pgdl
  • 6-Phospho-D-glucono-1,5-lactone
 2641-81-8
Hydrogen Ion
  • Hydrogen cation
  • Hydron
  • Proton
NADP
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
 53-59-8
genes like me logo Genes that share compounds with G6PD: view

Transcripts for G6PD Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for G6PD Gene

(2) REFSEQ mRNAs :
(494) Selected AceView cDNA sequences:
(11) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Clone Products

  • Addgene plasmids for G6PD

Alternative Splicing Database (ASD) splice patterns (SP) for G6PD Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b
SP1:
SP2: -
SP3: -
SP4:
SP5:
SP6: -
SP7:
SP8:

Relevant External Links for G6PD Gene

GeneLoc Exon Structure for
G6PD
ECgene alternative splicing isoforms for
G6PD

Expression for G6PD Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for G6PD Gene

mRNA expression in normal human tissues for G6PD Gene
mRNA expression by GTEx for G6PD GenemRNA expression by BioGPS for G6PD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for G6PD Gene

This gene is overexpressed in Whole Blood (x9.3).

Protein differential expression in normal tissues from HIPED for G6PD Gene

This gene is overexpressed in Testis (11.8), Lymph node (7.1), and NK cells (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for G6PD Gene



Protein tissue co-expression partners for G6PD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of G6PD Gene:

G6PD

SOURCE GeneReport for Unigene cluster for G6PD Gene:

Hs.461047

mRNA Expression by UniProt/SwissProt for G6PD Gene:

P11413-G6PD_HUMAN
Tissue specificity: Isoform Long is found in lymphoblasts, granulocytes and sperm.

Evidence on tissue expression from TISSUES for G6PD Gene

  • Lung(4.8)
  • Blood(4.4)
  • Nervous system(3.5)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for G6PD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • ear
  • eye
  • head
  • mouth
Abdomen:
  • liver
General:
  • blood
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with G6PD: view

Orthologs for G6PD Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for G6PD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia G6PD 34
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia G6PD 33 34
  • 90.4 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia G6PD 34
  • 90 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia G6PD 33 34
  • 89.85 (n)
rat
(Rattus norvegicus)
 Mammalia G6pd 33
  • 87.57 (n)
mouse
(Mus musculus)
 Mammalia G6pdx 33 16 34
  • 87.44 (n)
G6pd2 34
  • 87 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia G6PD 34
  • 84 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia G6PD 34
  • 79 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia g6pd 33
  • 71.4 (n)
zebrafish
(Danio rerio)
 Actinopterygii g6pd 33 34
  • 69.76 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Zw 35 33 34
  • 68.62 (n)
CG7140 35
  • 41 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP012678 33
  • 66.53 (n)
worm
(Caenorhabditis elegans)
 Secernentea B0035.5 35
  • 60 (a)
gspd-1 33 34
  • 58.63 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ZWF1 33 34
  • 54.68 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_ABL206C 33
  • 54.28 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0D19855g 33
  • 52.22 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons G6PD6 33
  • 54.99 (n)
soybean
(Glycine max)
 eudicotyledons Gma.16750 33
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.3508 33
rice
(Oryza sativa)
 Liliopsida Os04g0485300 33
  • 58.39 (n)
barley
(Hordeum vulgare)
 Liliopsida Hv.2912 33
wheat
(Triticum aestivum)
 Liliopsida Ta.706 33
corn
(Zea mays)
 Liliopsida Zm.3058 33
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 63 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU09111 33
  • 59.33 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes zwf1 33
  • 53.25 (n)
Species where no ortholog for G6PD was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for G6PD Gene

ENSEMBL:
Gene Tree for G6PD (if available)
TreeFam:
Gene Tree for G6PD (if available)

Paralogs for G6PD Gene

Paralogs for G6PD Gene

(1) SIMAP similar genes for G6PD Gene using alignment to 16 proteins:

genes like me logo Genes that share paralogs with G6PD: view

Variants for G6PD Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for G6PD Gene

G6PD_HUMAN-P11413
The sequence shown is that of variant B, the most common variant.

Sequence variations from dbSNP and Humsavar for G6PD Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs1034742794 uncertain-significance, Glucose 6 phosphate dehydrogenase deficiency 154,531,635(-) C/T 3_prime_UTR_variant
rs1050757 likely-benign, Glucose 6 phosphate dehydrogenase deficiency 154,531,643(-) C/T 3_prime_UTR_variant
rs1050828 pathogenic, other, drug-response, Glucose 6 phosphate dehydrogenase deficiency, G6PD ASAHI, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, Favism, susceptibility to, chlorproguanil and dapsone response - Toxicity/ADR, not provided, not specified, Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908] 154,536,002(-) C/T coding_sequence_variant, missense_variant
rs1050829 other, pathogenic, not-provided, conflicting-interpretations-of-pathogenicity, likely-benign, G6PD A+, Glucose 6 phosphate dehydrogenase deficiency, G6PD SANTAMARIA, not provided, Anemia, nonspherocytic hemolytic, due to G6PD deficiency, Favism, susceptibility to, Susceptibility to malaria, not specified 154,535,277(-) T/A/C coding_sequence_variant, missense_variant
rs1057515820 uncertain-significance, Glucose 6 phosphate dehydrogenase deficiency 154,531,465(-) C/A 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for G6PD Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
nsv508816 CNV insertion 20534489
nsv519042 CNV gain 19592680

Variation tolerance for G6PD Gene

Residual Variation Intolerance Score: 95.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.62; 65.47% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for G6PD Gene

Human Gene Mutation Database (HGMD)
G6PD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
G6PD

Disorders for G6PD Gene

MalaCards: The human disease database

(41) MalaCards diseases for G6PD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
anemia, nonspherocytic hemolytic, due to g6pd deficiency
  • favism
glucosephosphate dehydrogenase deficiency
  • deficiency of g-6pd
malaria
  • malaria, susceptibility to
neonatal jaundice
  • neonatal hyperbilirubinemia
blackwater fever
  • black water fever
- elite association - COSMIC cancer census association via MalaCards
Search G6PD in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

G6PD_HUMAN
  • Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]: A disease characterized by G6PD deficiency, acute hemolytic anemia, fatigue, back pain, and jaundice. In most patients, the disease is triggered by an exogenous agent, such as some drugs, food, or infection. Increased unconjugated bilirubin, lactate dehydrogenase, and reticulocytosis are markers of the disorder. Although G6PD deficiency can be life-threatening, most patients are asymptomatic throughout their life. {ECO:0000269 PubMed:12524354, ECO:0000269 PubMed:1303180, ECO:0000269 PubMed:1303182, ECO:0000269 PubMed:1536798, ECO:0000269 PubMed:1611091, ECO:0000269 PubMed:1889820, ECO:0000269 PubMed:1945893, ECO:0000269 PubMed:20007901, ECO:0000269 PubMed:26479991, ECO:0000269 PubMed:2836867, ECO:0000269 PubMed:2912069, ECO:0000269 PubMed:7858267, ECO:0000269 PubMed:7959695, ECO:0000269 PubMed:8193373, ECO:0000269 PubMed:8490627, ECO:0000269 PubMed:8533762, ECO:0000269 PubMed:8733135, ECO:0000269 PubMed:9452072}. Note=The disease is caused by mutations affecting the gene represented in this entry. Deficiency of G6PD is associated with hemolytic anemia in two different situations. First, in areas in which malaria has been endemic, G6PD-deficiency alleles have reached high frequencies (1% to 50%) and deficient individuals, though essentially asymptomatic in the steady state, have a high risk of acute hemolytic attacks. Secondly, sporadic cases of G6PD deficiency occur at a very low frequencies, and they usually present a more severe phenotype. Several types of NSHA are recognized. Class-I variants are associated with severe NSHA; class-II have an activity <10% of normal; class-III have an activity of 10% to 60% of normal; class-IV have near normal activity.

Genatlas disease for G6PD Gene

anemia,non spherocytic,congenital,hemolytic anemia,favism

Additional Disease Information for G6PD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with G6PD: view

Publications for G6PD Gene

  1. [Relationship between glucose-6-phosphate dehydrogenase gene mutations and neonatal jaundice in Naning, Guangxi]. (PMID: 20113600) Zhong DN … Wei LM (Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2009) 3 22 44 58
  2. Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population. (PMID: 19589177) Hue NT … Dunstan SJ (Malaria journal 2009) 3 22 44 58
  3. The prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase polymorphism C677T among G6PD deficient individuals from Western Iran. (PMID: 19219640) Mozafari H … Muniz A (Molecular biology reports 2009) 3 22 44 58
  4. Glucose-6-phosphate dehydrogenase deficiency in female octogenarians, nanogenarians, and centenarians. (PMID: 17077204) Au WY … Kwong YL (The journals of gerontology. Series A, Biological sciences and medical sciences 2006) 3 22 44 58
  5. The role of the G6PD AEth376G/968C allele in glucose-6-phosphate dehydrogenase deficiency in the seerer population of Senegal. (PMID: 16461316) De Araujo C … Ducrocq R (Haematologica 2006) 3 22 44 58

Products for G6PD Gene

  • Addgene plasmids for G6PD

Sources for G6PD Gene

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