Aliases for G6PD Gene
Aliases for G6PD Gene
External Ids for G6PD Gene
- HGNC: 4057
- Entrez Gene: 2539
- Ensembl: ENSG00000160211
- OMIM: 305900
- UniProtKB: P11413
Previous GeneCards Identifiers for G6PD Gene
- GC0XM147822
- GC0XM150140
- GC0XM151344
- GC0XM152227
- GC0XM153323
- GC0XM153412
- GC0XM153759
- GC0XM142336
Summaries 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.
Additional gene information for G6PD Gene
- Monarch Initiative
- Search for G6PD at DataMed
- Search for G6PD at HumanCyc
No data available for CIViC summary , Tocris Summary , fRNAdb sequence ontologies and piRNA Summary for G6PD Gene
Genomics for G6PD Gene
GeneHancer (GH) Regulatory Elements 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 |
Regulatory Element Products
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
- Cytogenetic band:
-
- Xq28 by Ensembl
- Xq28 by Entrez Gene
- Xq28 by HGNC


RefSeq DNA sequence for G6PD Gene
Proteins for G6PD Gene
-
Protein details for G6PD Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P11413-G6PD_HUMAN
- Recommended name:
- Glucose-6-phosphate 1-dehydrogenase
- Protein Accession:
- P11413
- 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
Protein Expression for G6PD Gene
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:
Antibody Products
- Cell Signaling Technology (CST) Antibodies for G6PD (G6PD)
-
Custom Antibody ServicesOriGene Antibodies for G6PD
- Novus Biologicals Antibodies for G6PD
-
Abcam antibodies for G6PD
-
Cloud-Clone Corp. Antibodies for G6PD
- Invitrogen Antibodies for G6PD
- GeneTex G6PD antibody for G6PD
-
Santa Cruz Biotechnology (SCBT) Antibodies for G6PD
Protein Products
-
OriGene Purified Proteins for G6PD
- Search Origene for MassSpec and Protein Over-expression Lysates for G6PD
- Origene Custom Protein Services for G6PD
- ProSpec Recombinant Proteins for G6PD
-
Cloud-Clone Corp. Proteins for G6PD
- Search GeneTex for Proteins for G6PD
-
ProSci Proteins for G6PD
-
Abcam proteins for G6PD
Assay Products
-
Cloud-Clone Corp. Assay Kits for G6PD
-
Abcam assays for G6PD
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- Family:
-
- Belongs to the glucose-6-phosphate dehydrogenase family.
Function for G6PD Gene
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
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 | -- |
Phenotypes for G6PD Gene
- MGI mutant phenotypes for G6PD:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for G6PD:
Animal Models for G6PD Gene
- MGI Knock Outs for G6PD:
-
- G6pdx tm1Luz
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for G6PD
-
-
ViGene Biosciences lentiviral particle packaged cDNA for G6PD gene
-
ViGene Biosciences ready-to-package AAV shRNAs for G6PD gene
- Search ViGene Biosciences for G6PD
CRISPR Products
-
OriGene CRISPR knockouts for G6PD
- Applied Biological Materials CRISPR for G6PD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for G6PD
- GenScript: Design CRISPR guide RNA sequences for G6PD
miRNA for G6PD Gene
- miRTarBase miRNAs that target G6PD
-
- hsa-mir-1-3p (MIRT002956)
- hsa-mir-335-5p (MIRT018235)
- hsa-mir-26b-5p (MIRT029662)
- hsa-mir-92b-3p (MIRT040672)
- hsa-mir-206 (MIRT437467)
- hsa-mir-1302 (MIRT737262)
- hsa-mir-2467-3p (MIRT739265)
- hsa-mir-3678-3p (MIRT742163)
- hsa-mir-4283 (MIRT743712)
- hsa-mir-4298 (MIRT743812)
- hsa-mir-4648 (MIRT746459)
- hsa-mir-4685-5p (MIRT746960)
- hsa-mir-504-3p (MIRT749547)
- hsa-mir-541-3p (MIRT750370)
- hsa-mir-571 (MIRT751401)
- hsa-mir-654-5p (MIRT753441)
- hsa-mir-6769a-5p (MIRT755184)
- hsa-mir-6769b-5p (MIRT755230)
- hsa-mir-6798-5p (MIRT756259)
- hsa-mir-6805-5p (MIRT756478)
- hsa-mir-6837-5p (MIRT757242)
- hsa-mir-6846-5p (MIRT757436)
- hsa-mir-6848-5p (MIRT757510)
- hsa-mir-7113-5p (MIRT759107)
- hsa-mir-8089 (MIRT760269)
- hsa-mir-92a-2-5p (MIRT760555)
miRNA Products
- Search ViGene Biosciences for G6PD
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for G6PD
- Browse OriGene Inhibitory RNA Products For G6PD
-
ViGene Biosciences ready-to-package AAV shRNAs for G6PD gene
Clone Products
- Sino Biological Human cDNA Clone for G6PD
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for G6PD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for G6PD
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for G6PD
- genomics-online: cdna clones - Search results for 201 available Glucose-6-Phosphate Dehydrogenase gene related products
- Overview of 201 available Glucose-6-Phosphate Dehydrogenase gene related products
- orf clones - Search results for 201 available Glucose-6-Phosphate Dehydrogenase gene related products
- Overview of 201 available Glucose-6-Phosphate Dehydrogenase gene related products
- Applied Biological Materials Clones for G6PD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for G6PD gene
-
ViGene Biosciences lentiviral particle packaged cDNA for G6PD gene
-
ViGene Biosciences ready-to-package AAV shRNAs for G6PD gene
No data available for Transcription Factor Targets and HOMER Transcription for G6PD Gene
Localization for G6PD Gene
- Cytosol (3)
- Microtubule organizing center (2)
- Vesicles (2)
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 |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for G6PD Gene
Pathways & Interactions for G6PD Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Pentose phosphate pathway | ||
2 | Glutathione metabolism | ||
3 | Metabolism |
.37
|
|
4 | Gene Expression |
.48
|
|
5 | Carbon metabolism |
Pathways by source for G6PD Gene
1 Cell Signaling Technology pathway for G6PD Gene
8 BioSystems pathways for G6PD Gene
7 Reactome pathways for G6PD Gene
2 PharmGKB pathways for G6PD Gene
5 KEGG pathways for G6PD Gene
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.
Interacting Proteins 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 |
Drugs & Compounds for G6PD Gene
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 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
nadph |
|
53-57-6 | ||||
6-Phosphonoglucono-D-lactone |
|
2641-81-8 |
|
|||
Hydrogen Ion |
|
|
||||
NADP |
|
53-59-8 |
|
Transcripts for G6PD Gene
mRNA/cDNA for G6PD Gene
- (2) REFSEQ mRNAs :
- (494) Selected AceView cDNA sequences:
- (11) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for G6PD
- Applied Biological Materials CRISPR for G6PD
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for G6PD
- GenScript: Design CRISPR guide RNA sequences for G6PD
miRNA Products
- Search ViGene Biosciences for G6PD
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for G6PD
- Browse OriGene Inhibitory RNA Products For G6PD
-
ViGene Biosciences ready-to-package AAV shRNAs for G6PD gene
Clone Products
- Sino Biological Human cDNA Clone for G6PD
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for G6PD
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for G6PD
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for G6PD
- genomics-online: cdna clones - Search results for 201 available Glucose-6-Phosphate Dehydrogenase gene related products
- Overview of 201 available Glucose-6-Phosphate Dehydrogenase gene related products
- orf clones - Search results for 201 available Glucose-6-Phosphate Dehydrogenase gene related products
- Overview of 201 available Glucose-6-Phosphate Dehydrogenase gene related products
- Applied Biological Materials Clones for G6PD
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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: |
Expression for G6PD Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Ovary (Reproductive System)
- Ovarian Mesenchymal Stroma Cells Ovary Interstitium
-
Testis (Reproductive System)
- Leydig Cells Testis Interstitium
- Bone (Muscoskeletal System)
- Blood (Hematopoietic System)
- Smooth Muscle (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for G6PD Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for G6PD Gene
NURSA nuclear receptor signaling pathways regulating expression of G6PD Gene:
G6PDSOURCE GeneReport for Unigene cluster for G6PD Gene:
Hs.461047mRNA Expression by UniProt/SwissProt for G6PD Gene:
P11413-G6PD_HUMANEvidence 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
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- integumentary
- nervous
- skeletal muscle
- ear
- eye
- head
- mouth
- liver
- blood
- red blood cell
- skin
Primer Products
-
OriGene qPCR primer pairs for G6PD
-
OriGene qPCR primer pairs and template standards for G6PD
Orthologs for G6PD Gene
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | G6PD 34 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | G6PD 33 34 |
|
||
platypus (Ornithorhynchus anatinus) |
Mammalia | G6PD 34 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | G6PD 33 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | G6pd 33 |
|
||
mouse (Mus musculus) |
Mammalia | G6pdx 33 16 34 |
|
||
G6pd2 34 |
|
OneToMany | |||
oppossum (Monodelphis domestica) |
Mammalia | G6PD 34 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | G6PD 34 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | g6pd 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | g6pd 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | Zw 35 33 34 |
|
||
CG7140 35 |
|
|
|||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012678 33 |
|
||
worm (Caenorhabditis elegans) |
Secernentea | B0035.5 35 |
|
|
|
gspd-1 33 34 |
|
||||
baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ZWF1 33 34 |
|
||
A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_ABL206C 33 |
|
||
K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D19855g 33 |
|
||
thale cress (Arabidopsis thaliana) |
eudicotyledons | G6PD6 33 |
|
||
soybean (Glycine max) |
eudicotyledons | Gma.16750 33 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.3508 33 |
|
||
rice (Oryza sativa) |
Liliopsida | Os04g0485300 33 |
|
||
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 |
|
OneToOne | |
bread mold (Neurospora crassa) |
Ascomycetes | NCU09111 33 |
|
||
fission yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | zwf1 33 |
|
- 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)
Paralogs for G6PD Gene
(1) SIMAP similar genes for G6PD Gene using alignment to 16 proteins:
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.
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 |
Additional Variant Information for G6PD Gene
Disorders for G6PD Gene

(41) MalaCards diseases for G6PD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
Disorder | Aliases | PubMed IDs |
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anemia, nonspherocytic hemolytic, due to g6pd deficiency |
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glucosephosphate dehydrogenase deficiency |
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malaria |
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neonatal jaundice |
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blackwater fever |
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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
Additional Disease Information for G6PD
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Publications for G6PD Gene
- [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
- 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
- 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
- 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
- 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
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Sources for G6PD Gene
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