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G6PD Gene

protein-coding GIFtS: 69

GC0XM153412

glucose-6-phosphate dehydrogenase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
EC 1.1.1.49 ^³
G6PD1 ^¹, ², ⁵
OTTHUMP00000026034 ^²

Descriptions
glucose-6-phosphate 1-dehydrogenase ^²
glucose-6-phosphate dehydrogenase ^²
glucose-6-phosphate dehydrogenase, G6PD ^²

External Ids
HGNC: 4057¹
Entrez Gene: 2539²
UniProtKB: P11413³
Ensembl: ENSG00000160211⁷

Search outside databases for aliases for G6PD gene

Previous GC identifers: GC0XM147822 GC0XM150140 GC0XM151344 GC0XM152227 GC0XM153323

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for G6PD:

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]

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Function: Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing

power

Gene Wiki entry for G6PD (Glucose-6-phosphate_dehydrogenase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the G6PD gene

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

G6PD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM153412: (about GC identifiers)

Start:	153,412,800 bp from pter
End:	153,428,981 bp from pter
Size:	16,182 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011726.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413 (See protein sequence)

Recommended Name: Glucose-6-phosphate 1-dehydrogenase

Size: 515 amino acids; 59257 Da

Subunit: Homodimer or homotetramer

Miscellaneous: Has NADP both as cofactor (bound to the N-terminal domain) and as structural element

bound to the C-terminal domain

PDB structures from and Proteopedia :

1QKI (3D)

2BH9 (3D)

2BHL (3D)

Secondary accessions: Q16000 Q16765 Q8IU70 Q8IU88 Q8IUA6 Q96PQ2

Alternative splicing: 2 isoforms: P11413-1 P11413-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000393.4 NP_001035810.1

ENSEMBL proteins:

ENSP00000377192 ENSP00000291567 ENSP00000377194 ENSP00000358633

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Glucose 6 Phosphate Dehydrogenase)
	Human Recombinant Proteins from Abnova (G6PD)

OriGene Purified Recombinant Human Protein: G6PD

5 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	11256614 18029348
GO:0005813	centrosome	IDA	18029348
GO:0005829	cytosol	IDA	743300
GO:0009898	internal side of plasma membrane	IDA	743300
GO:0043231	intracellular membrane-bounded organelle	IDA	18029348

About this table

Antibodies for G6PD:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for G6PD
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Glucose 6 Phosphate Dehydrogenase), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (G6PD)
	Novus Biologicals Antibodies for G6PD

Assays for G6PD:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry P11413

ProtoNet protein and cluster: P11413

1 Blocks protein family: IPB001282 Glucose-6-phosphate dehydrogenase

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Similarity: Belongs to the glucose-6-phosphate dehydrogenase family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (G6PD)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (G6PD)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000402

Applied Biosystems Silencer® siRNAs for G6PD

Sigma-Aldrich siRNA and siRNA Panels for G6PD

Sigma-Aldrich shRNA for G6PD

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for G6PD
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000402
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000402
untagged cDNA clones in CMV expression vector (see all 3): NM_000402

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000402

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Function: Produces pentose sugars for nucleic acid synthesis and main producer of NADPH reducing

power

Catalytic activity: D-glucose 6-phosphate + NADP(+) = D-glucono-1,5-lactone 6-phosphate + NADPH

Enzyme Number (IUBMB): EC 1.1.1.49

Genatlas biochemistry entry for G6PD:

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

9 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for G6pdx):

	cellular	craniofacial	embryogenesis	growth/size
hematopoietic system	homeostasis/metabolism	lethality-prenatal/perinatal	nervous system

5/6 Gene Ontology (GO) molecular function terms (links to tree view) (see all 6 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004345	glucose-6-phosphate dehydrogenase activity	IEA	--
GO:0005488	binding	IEA	--
GO:0005536	glucose binding	IMP	5643703
GO:0016491	oxidoreductase activity	IEA	--
GO:0042803	protein homodimerization activity	IPI	15858258

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for G6PD (Your Favorite Gene powered by Ingenuity)

Pentose Phosphate Pathway
Glutathione Metabolism

GeneDecks G6PD for the pathways selected above

About GeneDecksing

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Pathway: Carbohydrate degradation; pentose phosphate pathway; D-ribulose 5-phosphate from D-glucose

6-phosphate (oxidative stage): step 1/3

Gene Network Central^TM Interacting Genes and Proteins Network for G6PD

5/77 Interacting proteins for G6PD (ENSP00000291567³) via UniProtKB, MINT, and/or STRING (see all 77 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GPI	ENSP00000348877³	STRING (score=.997)
PGLS	ENSP00000252603³	STRING (score=.997)
PGD	ENSP00000366262³	STRING (score=.981)
HPRT1	ENSP00000298556³	STRING (score=.968)
UBL4A	ENSP00000358667³	STRING (score=.956)

About this table

5/14 Gene Ontology (GO) biological process terms (links to tree view) (see all 14 ):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001816	cytokine production	IMP	17361089
GO:0005975	carbohydrate metabolic process	IEA	--
GO:0006006	glucose metabolic process	IEA	--
GO:0006010	glucose 6-phosphate utilization	IMP	5643703
GO:0006629	lipid metabolic process	TAS	17361089

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for G6PD
10/49 Novoseek chemical compound relationships for G6PD gene (see all 49 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
glucose 6-phosphate	99.05	3446	8790979 (6), 12902098 (6), 12438773 (6), 12476860 (6) (see all 99)
6-phosphogluconate	85.94	86	8790979 (4), 8955144 (2), 1637668 (2), 7875715 (2) (see all 54)
nadph	77.88	199	14614139 (4), 17675065 (4), 2297768 (3), 2269430 (3) (see all 99)
nadp+	74.47	53	16934959 (3), 15858258 (3), 14980702 (2), 2403336 (2) (see all 31)
neotetrazolium	67.35	4	7930518 (1), 10582692 (1), 9306960 (1)
2',5'-adp	65.12	4	15003259 (1), 12696635 (1), 11237690 (1), 14704475 (1)
o-ethylhydroxylamine	62.99	1	10087986 (1)
superoxide	62.30	125	17675065 (4), 8899868 (3), 14973180 (2), 10395749 (2) (see all 96)
epiandrosterone	62.05	5	9523930 (2), 8251763 (1), 12475725 (1)
pyruvate	61.45	74	1434530 (4), 2168088 (2), 2049468 (2), 8869370 (2) (see all 53)

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4 PharmGKB drug compound relationships for G6PD gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
estradiol	FA	14514655
mercaptopurine	PD FA GN	12704389
methotrexate	PD FA GN	12704389
tamoxifen	FA	14514655

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (G6PD)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (G6PD)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000402

Sigma-Aldrich siRNA and siRNA Panels for G6PD

Sigma-Aldrich shRNA for G6PD

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000402 NM_001042351

REFSEQ mRNAs for G6PD gene (2 alternative transcripts):

NM_000402.3 NM_001042351.1

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000402 NM_001042351

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000402
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000402
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000402

Additional cDNA sequence: M19866.1

22 DOTS entries:

DT.217832 DT.121293712 DT.100886708 DT.100886711 DT.97760191 DT.95181123 DT.91651365 DT.95181033

DT.99948311 DT.100886676 DT.100886712 DT.121294781 DT.92459873 DT.100886703 DT.121293725 DT.95181124

DT.100886697 DT.121293821 DT.121294265 DT.80100454 DT.95181111 DT.95181122

24/494 AceView cDNA sequences (see all 494 ):

BQ934527 BQ955025 BI333724 BM153536 BG740654 CN483145 BM823725 AL043503

CR606589 AL527352 BU557997 BE264631 BQ954497 CF272496 BU543660 BQ052923

BM916963 CA429090 CA487496 BP356172 BQ889036 BQ935766 F07572 BE464610

highest scoring ESTs for G6PD:

AL043502 AL539344 AL551425 AW247067 BC000337 BE409866 BE890533 BF027344 BG252525 BG287979

Unigene Clusters for G6PD:

Glucose-6-phosphate dehydrogenase

Hs.461047 [show with all ESTs], Hs.684904

Unigene Representative Sequences: X03674, M19866

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for G6PD (see all 8 )

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:

About this scheme

ECgene alternative splicing isoforms for G6PD

4 Ensembl transcripts including schematic representations:

ENST00000393562 ENST00000291567 ENST00000393564 ENST00000369620

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

G6PD expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for G6PD

¹ / ² / ³

2 probe-sets matching G6PD gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
202275_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000402	0.60	1.00	0.82	1
202275_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: CCCTTGAACC

SOURCE GeneReport for Unigene clusters: Hs.461047 Hs.684904
Expression variation in blood from EXPOLDB for G6PD
UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413
Tissue specificity: The long isoform is found in lymphoblasts, granulocytes and sperm

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for G6PD gene from 5/23 species (see all 23 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	G6PD¹	--	glucose-6-phosphate dehydrogenase	89.91(n) 91.74(a)	481088 XM_538209.2 XP_538209.2
cow (Bos taurus)	G6PD¹	--	glucose-6-phosphate dehydrogenase	89.2(n) 91.81(a)	281179 XM_583628.3 XP_583628.3
rat (Rattus norvegicus)	G6pd¹	--	glucose-6-phosphate dehydrogenase	87.51(n) 93.79(a)	24377 NM_017006.1 NP_058702.1
mouse (Mus musculus)	G6pdx^{1, 5}	X (30.02 cM)⁵	glucose-6-phosphate dehydrogenase X-linked^{1, 5}	87.38(n)¹ 93.79(a)¹	14381¹ NM_008062.2¹ NP_032088.1¹ AF326207⁵ AK088135⁵ (see all 19)
zebrafish (Danio rerio)	wu:fj78b06¹	--	wu:fj78b06	69.62(n) 76.3(a)	570579 XM_694076.3 XP_699168.2

About this table Species with no ortholog for G6PD

ENSEMBL Gene Tree for G6PD

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for G6PD gene

H6PD² PGLS²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Polymorphism: The sequence shown is that of variant B, the most common variant

10/46 NCBI SNPs in G6PD are shown (see all 46 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 28)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1050829^1,2	A,C,F	153416686(-)	`CATNGA/GATGCC`	2	N/D	mis¹ ese³		2	MN	234
	rs1050828^1,2	C,F,H	153417411(-)	`TCATCG/ATGGGC`	2	M/V	mis¹		10	MN EU EA WA	864
	rs1050757^1,2	A,F	153413052(-)	`GGGACA/GAGGGG`	2	--	ut3¹		1	MN	184
	rs2230037^1,2	F	153413848(-)	`GCCTAC/TGAGCG`	2	Y/Y	syn¹ ese³		1	MN	42
--	rs2230036^1,2	F	153414147(-)	`CTGCAG/ATTCCA`	2	Q/Q	syn¹ ese³		1	MN	42
	rs743544^1,2	A,C,F,H	153418360(-)	`ATTTCC/TAGCTT`	2	--	int¹		12	NA EA MN EU WA	1062
	rs762516^1,2	C,F,H	153417857(+)	`AAGTAC/TCATGT`	2	--	int¹		4	EU EA WA	418
	rs2071429^1,2	C,F,H	153413702(-)	`CATACT/CATGTC`	2	--	int¹		4	EU EA WA	418
	rs762515^1,2	C,F,H	153417722(+)	`TGATAT/CACAGA`	2	--	int¹		8	NA EA EU WA	754
	rs5986991^1,2	A,H	153419379(+)	`gaggaG/Agattg`	2	--	int¹ trp³		4	EU EA WA	414

About this table

HapMap Linkage Disequilibrium images for G6PD (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 305900

UniProtKB/Swiss-Prot: G6PD_HUMAN, P11413

Defects in G6PD are the cause of chronic non-spherocytic hemolytic anemia (CNSHA)

[MIM:305900]. 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 CNSHA 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

10/98 Novoseek disease relationships for G6PD gene (see all 98 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
g6pd deficiency	99.30	2502	12971572 (11), 11903742 (10), 18385045 (9), 18582416 (9) (see all 99)
favism	94.10	56	8991858 (3), 15957246 (2), 16513531 (2), 10571945 (2) (see all 28)
enzymopathy	92.23	73	8813716 (2), 2386513 (1), 2393028 (1), 8235390 (1) (see all 42)
jaundice neonatal	90.08	129	11317924 (6), 1468858 (5), 16255851 (4), 11529386 (3) (see all 63)
kernicterus	88.03	66	12729287 (4), 17483701 (3), 12208096 (2), 18460213 (2) (see all 35)
anemia hemolytic	87.45	173	15645702 (3), 9332310 (3), 18677765 (3), 9674740 (2) (see all 99)
hemolysis	86.78	276	11783956 (4), 8703811 (3), 16603783 (3), 15910447 (3) (see all 99)
enzyme deficiency	83.84	55	8579339 (1), 8639919 (1), 12737943 (1), 2386511 (1) (see all 38)
hyperbilirubinemia	81.11	103	10091404 (3), 10390262 (3), 12368976 (3), 17483701 (3) (see all 51)
methemoglobinemia	75.03	28	17992408 (3), 16204390 (2), 11824767 (2), 18561168 (1) (see all 20)

About this table

2 PharmGKB disease relationships for G6PD gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Breast Neoplasms	FA	14514655
Leukemia, Lymphocytic, Acute, L1	PD FA GN	12704389

About this table

Genatlas disease: G6PD

anemia,non spherocytic,congenital,hemolytic anemia,favism

Human Gene Mutation Database: G6PD
Genetic Association Database: G6PD
Human Genome Epidemiology Navigator: G6PD (66 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

Study Suggests Genetic Component to Sinonasal Polyps: Presented at AAOA

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/1388 PubMed articles for G6PD gene (see all 1388 ):

A novel single-base mutation in the glucose 6-phosphate dehydrogenase gene is associated with chronic non-spherocytic haemolytic anaemia. (PubMed id 7959695)^{1, 3, 4, 6} Filosa S....Martini G. (1994)
Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. (PubMed id 3012556)^{2, 3, 4} Takizawa T.... Yoshida A. (1986)
Structural analysis of the X-linked gene encoding human glucose 6-phosphate dehydrogenase. (PubMed id 2428611)^{2, 3, 4} Martini G....Persico M.G. (1986)
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Thailand: G6PD Viangchan (871G>A) is the most common deficiency variant in the Thai population. (PubMed id 11793482)^{1, 3, 6} Nuchprayoon I....Nuchprayoon S. (2002)
Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays. (PubMed id 12497642)^{1, 3, 6} Ainoon O....Hamidah N.H. (2003)
Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis. (PubMed id 8193373)^{1, 3, 4} Hirono A.... Kubota K. (1994)
A new glucose-6-phosphate dehydrogenase variant, G6PD Orissa (44 Ala-->Gly), is the major polymorphic variant in tribal populations in India. (PubMed id 8533762)^{1, 3, 4} Kaeda J.S....Mason P.J. (1995)
Glucose-6-phosphate dehydrogenase (G6PD) mutations in Cambodia: G6PD Viangchan (871G>A) is the most common variant in the Cambodian population. (PubMed id 16136268)^{1, 3, 6} Matsuoka H....Kawamoto F. (2005)
Glucose-6-phosphate dehydrogenase mutations and haplotypes in Mexican Mestizos. (PubMed id 11042039)^{1, 3, 6} Arambula E....Vaca G. (2000)
Glucose-6-phosphate dehydrogenase deficiency does not result from mutations in the promoter region of the G6PD gene. (PubMed id 12696079)^{1, 3, 6} Menounos P.G....Patrinos G.P. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 2539	HGNC: 4057	AceView: G6PD	Ensembl:ENSG00000160211	euGenes: HUgn2539
ECgene: G6PD	H-InvDB: G6PD

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for G6PD	Genetics and Cytogenetics in Oncology and Haematology
G6PD	http://rialto.com/g6pd/
G6PDdb	http://www.rubic.rdg.ac.uk/g6pd/
GeneReviews	http://www.genetests.org/query?gene=G6PD
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=G6PD

Licensable Technologies for G6PD
(Available from WIS Yeda, Salk, Tufts)

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(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
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Products for G6PD:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for G6PD-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for G6PD		Antibodies for G6PD
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	Lentivirus-delivered shRNAs for G6PD		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

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	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

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	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Glucose 6 Phosphate Dehydrogenase)
	Antibodies (Glucose 6 Phosphate Dehydrogenase)

	Tagged/untagged cDNA clones
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	Purified proteins from HEK293T cells
	Western blot validated antibodies
	shRNA in GFP-retroviral vector

Search Tocris compounds for G6PD

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for G6PD

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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G6PD Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for G6PD

Summaries
for G6PD

Genomic Location
for G6PD

Proteins
for G6PD

Protein Domains/
Families
for G6PD

Gene Function
for G6PD

Pathways & Interactions
for G6PD

Drugs & Compounds
for G6PD

Transcripts
for G6PD

Expression
for G6PD

Orthologs
for G6PD

Paralogs
for G6PD

SNPs/Variants
for G6PD

Disorders & Mutations
for G6PD

Medical News
for G6PD

Publications
for G6PD

Search for G6PD

Genome Databases showing G6PD

Other Databases showing G6PD

Specialized Databases showing G6PD

Licensable Technologies
for G6PD

Services
for G6PD

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

G6PD Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor G6PD

Summariesfor G6PD

Genomic Locationfor G6PD

Proteinsfor G6PD

Protein Domains/Familiesfor G6PD

Gene Functionfor G6PD

Pathways & Interactionsfor G6PD

Drugs & Compoundsfor G6PD

Transcriptsfor G6PD

Expression for G6PD

Orthologsfor G6PD

Paralogsfor G6PD

SNPs/Variantsfor G6PD

Disorders & Mutationsfor G6PD

Medical Newsfor G6PD

Publicationsfor G6PD

Search for G6PD

Genome Databases showing G6PD

Other Databases showing G6PD

Specialized Databases showing G6PD

Licensable Technologiesfor G6PD

Servicesfor G6PD

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for G6PD

Summaries
for G6PD

Genomic Location
for G6PD

Proteins
for G6PD

Protein Domains/
Families
for G6PD

Gene Function
for G6PD

Pathways & Interactions
for G6PD

Drugs & Compounds
for G6PD

Transcripts
for G6PD

Expression
for G6PD

Orthologs
for G6PD

Paralogs
for G6PD

SNPs/Variants
for G6PD

Disorders & Mutations
for G6PD

Medical News
for G6PD

Publications
for G6PD

Licensable Technologies
for G6PD

Services
for G6PD