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G6PD (glucose-6-phosphate dehydrogenase)

Gene

2539

Glucose-6-phosphate dehydrogenase

G6PD

CNSHA1, G6PD1

Xq28

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 biosynth

Show/Hide all(50)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1050828	C>T	Pathogenic, other, not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance, drug-response	Coding sequence variant, missense variant
rs1050829	T>A,C	Pathogenic, other, conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs2515904	G>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs5030868	G>A	Pathogenic, other, likely-pathogenic, pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs5030869	C>A,T	Pathogenic, other	Coding sequence variant, missense variant
rs5030872	T>A	Pathogenic, other	Coding sequence variant, missense variant
rs34193178	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs72554664	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs72554665	C>A,G,T	Other, pathogenic	Coding sequence variant, missense variant
rs76645461	A>G	Other, pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs76723693	A>G	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, missense variant
rs78365220	A>C,G	Pathogenic	Coding sequence variant, missense variant
rs78478128	G>C	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852314	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852316	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852317	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852318	C>A,G,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852320	T>C	Other, pathogenic	Coding sequence variant, missense variant
rs137852322	A>G	Pathogenic	Coding sequence variant, missense variant
rs137852325	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852326	C>A,G	Other, pathogenic	Coding sequence variant, missense variant
rs137852327	C>T	Other, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs137852328	C>A,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852329	G>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852330	G>A	Other, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs137852331	T>C	Other, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137852332	C>G,T	Other, pathogenic	Coding sequence variant, missense variant
rs137852334	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852335	C>G	Other, pathogenic	Coding sequence variant, missense variant
rs137852336	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852337	C>G,T	Other, pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs137852339	C>T	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852341	C>A,T	Other, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137852342	G>A	Other, conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs137852345	G>A	Other, pathogenic	Coding sequence variant, missense variant
rs137852346	C>T	Other, pathogenic	Coding sequence variant, missense variant
rs137852347	A>G	Other, pathogenic	Coding sequence variant, missense variant
rs267606835	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs267606836	G>A	Pathogenic	Missense variant, coding sequence variant
rs387906468	C>T	Other, pathogenic	Missense variant, coding sequence variant
rs398123546	G>A	Pathogenic	Missense variant, coding sequence variant
rs398123547	G>A	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs587776730	GGTCGTCCAGGTACCCTTTGGTGG>-	Other, pathogenic	Inframe deletion, coding sequence variant
rs782090947	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1557229599	G>A	Pathogenic	Missense variant, coding sequence variant
rs1557229736	T>A	Pathogenic	Missense variant, coding sequence variant
rs1557230040	T>A	Pathogenic	Missense variant, coding sequence variant
rs1557230573	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1603411177	G>A	Pathogenic	Coding sequence variant, missense variant
rs1603411214	C>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(213)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002956	hsa-miR-1-3p	pSILAC	18668040
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay	14697198
MIRT018235	hsa-miR-335-5p	Microarray	18185580
MIRT002956	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT002956	hsa-miR-1-3p	Proteomics	18668040
MIRT029662	hsa-miR-26b-5p	Microarray	19088304
MIRT040672	hsa-miR-92b-3p	CLASH	23622248
MIRT437467	hsa-miR-206	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, Quantitative proteomic approach, Western blot	23921124
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT002956	hsa-miR-1-3p	Luciferase reporter assay, qRT-PCR, Western blot	27861141
MIRT1009033	hsa-miR-1182	CLIP-seq
MIRT1009034	hsa-miR-1193	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1009036	hsa-miR-1256	CLIP-seq
MIRT1009037	hsa-miR-1343	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009039	hsa-miR-2392	CLIP-seq
MIRT1009040	hsa-miR-24	CLIP-seq
MIRT1009041	hsa-miR-3130-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1009044	hsa-miR-3677-5p	CLIP-seq
MIRT1009045	hsa-miR-3689a-3p	CLIP-seq
MIRT1009046	hsa-miR-3689c	CLIP-seq
MIRT1009047	hsa-miR-378g	CLIP-seq
MIRT1009048	hsa-miR-3926	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009050	hsa-miR-4269	CLIP-seq
MIRT1009051	hsa-miR-4425	CLIP-seq
MIRT1009052	hsa-miR-4437	CLIP-seq
MIRT1009053	hsa-miR-4482	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009057	hsa-miR-4674	CLIP-seq
MIRT1009058	hsa-miR-4687-3p	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009061	hsa-miR-4736	CLIP-seq
MIRT1009062	hsa-miR-4742-5p	CLIP-seq
MIRT1009063	hsa-miR-4754	CLIP-seq
MIRT1009064	hsa-miR-4761-3p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009067	hsa-miR-4786-5p	CLIP-seq
MIRT1009068	hsa-miR-4787-5p	CLIP-seq
MIRT1009069	hsa-miR-512-5p	CLIP-seq
MIRT1009070	hsa-miR-516a-5p	CLIP-seq
MIRT1009071	hsa-miR-516b	CLIP-seq
MIRT1009072	hsa-miR-548s	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009075	hsa-miR-769-5p	CLIP-seq
MIRT1009076	hsa-miR-940	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009078	hsa-miR-1289	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009037	hsa-miR-1343	CLIP-seq
MIRT1009080	hsa-miR-138	CLIP-seq
MIRT1009081	hsa-miR-15a	CLIP-seq
MIRT1009082	hsa-miR-15b	CLIP-seq
MIRT1009083	hsa-miR-16	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009084	hsa-miR-195	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009086	hsa-miR-3180	CLIP-seq
MIRT1009087	hsa-miR-3180-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009089	hsa-miR-3196	CLIP-seq
MIRT1009090	hsa-miR-3689d	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009092	hsa-miR-3940-3p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009094	hsa-miR-3960	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009096	hsa-miR-424	CLIP-seq
MIRT1009097	hsa-miR-4281	CLIP-seq
MIRT1009098	hsa-miR-4299	CLIP-seq
MIRT1009099	hsa-miR-4435	CLIP-seq
MIRT1009100	hsa-miR-4449	CLIP-seq
MIRT1009101	hsa-miR-4467	CLIP-seq
MIRT1009102	hsa-miR-4504	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1009103	hsa-miR-4524	CLIP-seq
MIRT1009104	hsa-miR-4532	CLIP-seq
MIRT1009105	hsa-miR-4533	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009058	hsa-miR-4687-3p	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009110	hsa-miR-4747-5p	CLIP-seq
MIRT1009111	hsa-miR-4750	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009063	hsa-miR-4754	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009114	hsa-miR-497	CLIP-seq
MIRT1009115	hsa-miR-503	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1009069	hsa-miR-512-5p	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009118	hsa-miR-646	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009119	hsa-miR-765	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1998972	hsa-miR-122	CLIP-seq
MIRT1009078	hsa-miR-1289	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1009042	hsa-miR-3173-3p	CLIP-seq
MIRT1009086	hsa-miR-3180	CLIP-seq
MIRT1009087	hsa-miR-3180-3p	CLIP-seq
MIRT1009043	hsa-miR-3184	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009089	hsa-miR-3196	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009092	hsa-miR-3940-3p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009094	hsa-miR-3960	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009049	hsa-miR-423-5p	CLIP-seq
MIRT1009097	hsa-miR-4281	CLIP-seq
MIRT1009099	hsa-miR-4435	CLIP-seq
MIRT1009100	hsa-miR-4449	CLIP-seq
MIRT1009101	hsa-miR-4467	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009104	hsa-miR-4532	CLIP-seq
MIRT1009105	hsa-miR-4533	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009061	hsa-miR-4736	CLIP-seq
MIRT1009110	hsa-miR-4747-5p	CLIP-seq
MIRT1009111	hsa-miR-4750	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1998975	hsa-miR-4768-5p	CLIP-seq
MIRT1009066	hsa-miR-4779	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1998976	hsa-miR-541	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009077	hsa-miR-1	CLIP-seq
MIRT1009035	hsa-miR-1207-5p	CLIP-seq
MIRT1009079	hsa-miR-1301	CLIP-seq
MIRT1009038	hsa-miR-1908	CLIP-seq
MIRT1009040	hsa-miR-24	CLIP-seq
MIRT1009085	hsa-miR-2467-5p	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1009088	hsa-miR-3188	CLIP-seq
MIRT1009047	hsa-miR-378g	CLIP-seq
MIRT1009091	hsa-miR-3922-5p	CLIP-seq
MIRT1009093	hsa-miR-3944-5p	CLIP-seq
MIRT1009095	hsa-miR-3975	CLIP-seq
MIRT1009050	hsa-miR-4269	CLIP-seq
MIRT1009052	hsa-miR-4437	CLIP-seq
MIRT1009054	hsa-miR-4514	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009055	hsa-miR-4640-5p	CLIP-seq
MIRT1009106	hsa-miR-4649-3p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1009107	hsa-miR-4660	CLIP-seq
MIRT1009057	hsa-miR-4674	CLIP-seq
MIRT1009059	hsa-miR-4692	CLIP-seq
MIRT1009108	hsa-miR-4708-3p	CLIP-seq
MIRT1009109	hsa-miR-4717-5p	CLIP-seq
MIRT1009060	hsa-miR-4726-5p	CLIP-seq
MIRT1009062	hsa-miR-4742-5p	CLIP-seq
MIRT1009112	hsa-miR-4753-5p	CLIP-seq
MIRT1009065	hsa-miR-4763-3p	CLIP-seq
MIRT1009113	hsa-miR-485-5p	CLIP-seq
MIRT1009116	hsa-miR-5047	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq
MIRT1009117	hsa-miR-613	CLIP-seq
MIRT1009074	hsa-miR-663	CLIP-seq
MIRT1009076	hsa-miR-940	CLIP-seq
MIRT1009041	hsa-miR-3130-5p	CLIP-seq
MIRT1009044	hsa-miR-3677-5p	CLIP-seq
MIRT1009048	hsa-miR-3926	CLIP-seq
MIRT1009053	hsa-miR-4482	CLIP-seq
MIRT1009067	hsa-miR-4786-5p	CLIP-seq
MIRT1009072	hsa-miR-548s	CLIP-seq
MIRT1009075	hsa-miR-769-5p	CLIP-seq
MIRT1998972	hsa-miR-122	CLIP-seq
MIRT1998973	hsa-miR-3187-3p	CLIP-seq
MIRT1998974	hsa-miR-4529-5p	CLIP-seq
MIRT1009056	hsa-miR-4651	CLIP-seq
MIRT1998976	hsa-miR-541	CLIP-seq
MIRT1998977	hsa-miR-564	CLIP-seq
MIRT1009073	hsa-miR-608	CLIP-seq

Transcription factors

Show/Hide all(1)

Transcription factor	Regulation	Reference
CREM	Repression	17273168

Show/Hide all(42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IDA	15858258
GO:0004345	Function	Glucose-6-phosphate dehydrogenase activity	IMP	743300, 2420826, 5643703
GO:0005515	Function	Protein binding	IPI	21157431, 24769394
GO:0005536	Function	Glucose binding	IDA	15858258
GO:0005536	Function	Glucose binding	IMP	5643703
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA
GO:0005829	Component	Cytosol	IDA	743300
GO:0005829	Component	Cytosol	TAS
GO:0006006	Process	Glucose metabolic process	IEA
GO:0006098	Process	Pentose-phosphate shunt	IDA	2297768
GO:0006098	Process	Pentose-phosphate shunt	TAS
GO:0006629	Process	Lipid metabolic process	TAS	17361089
GO:0006695	Process	Cholesterol biosynthetic process	IMP	12027950
GO:0006739	Process	NADP metabolic process	IDA	15858258
GO:0006740	Process	NADPH regeneration	IMP	17516514
GO:0006749	Process	Glutathione metabolic process	IMP	2420826, 17516514
GO:0009051	Process	Pentose-phosphate shunt, oxidative branch	IMP	2420826
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	743300
GO:0010041	Process	Response to iron(III) ion	IEA
GO:0010734	Process	Negative regulation of protein glutathionylation	IMP	17516514
GO:0014070	Process	Response to organic cyclic compound	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0019322	Process	Pentose biosynthetic process	IDA	5643703
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0032094	Process	Response to food	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034599	Process	Cellular response to oxidative stress	IMP	17516514
GO:0042802	Function	Identical protein binding	IPI	24769394, 25416956
GO:0042803	Function	Protein homodimerization activity	IPI	15858258
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
GO:0043249	Process	Erythrocyte maturation	IMP	5643703
GO:0043523	Process	Regulation of neuron apoptotic process	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046390	Process	Ribose phosphate biosynthetic process	IMP	2420826
GO:0050661	Function	NADP binding	IDA	15858258
GO:0051156	Process	Glucose 6-phosphate metabolic process	IDA	15858258
GO:0051156	Process	Glucose 6-phosphate metabolic process	IMP	5643703
GO:0061052	Process	Negative regulation of cell growth involved in cardiac muscle cell development	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:1904879	Process	Positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel	IEA
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IEA

MIM	HGNC	e!Ensembl
305900	4057	ENSG00000160211

Protein

UniProt ID

P11413

Protein name

Glucose-6-phosphate 1-dehydrogenase (G6PD) (EC 1.1.1.49)

Protein 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 ph

PDB

1QKI , 2BH9 , 2BHL , 5UKW , 6E07 , 6E08 , 6JYU , 6VA0 , 6VA7 , 6VA8 , 6VA9 , 6VAQ , 7SEH , 7SEI , 7SNF , 7SNG , 7SNH , 7SNI , 7TOE , 7TOF , 7UAG , 7UAL , 7UC2 , 7ZVD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00479	G6PD_N	35 → 210	Glucose-6-phosphate dehydrogenase, NAD binding domain	Domain
PF02781	G6PD_C	212 → 509	Glucose-6-phosphate dehydrogenase, C-terminal domain	Domain

Sequence

MAEQVALSRTQVCGILREELFQGDAFHQSDTHIFIIMGASGDLAKKKIYPTIWWLFRDGL
LPENTFIVGYARSRLTVADIRKQSEPFFKATPEEKLKLEDFFARNSYVAGQYDDAASYQR
LNSHMNALHLGSQANRLFYLALPPTVYEAVTKNIHESCMSQIGWNRIIVEKPFGRDLQSS
DRLSNHISSLFREDQIYRIDHYLGKEMVQNLMVLRFANRIFGPIWNRDNIACVILTFKEP
FGTEGRGGYFDEFGIIRDVMQNHLLQMLCLVAMEKPASTNSDDVRDEKVKVLKCISEVQA
NNVVLGQYVGNPDGEGEATKGYLDDPTVPRGSTTATFAAVVLYVENERWDGVPFILRCGK
ALNERKAEVRLQFHDVAGDIFHQQCKRNELVIRVQPNEAVYTKMMTKKPGMFFNPEESEL
DLTYGNRYKNVKLPDAYERLILDVFCGSQMHFVRSDELREAWRIFTPLLHQIELEKPKPI
PYIYGSRGPTEADELMKRVGFQYEGTYKWVNPHKL

Sequence length

515

Interactions

View interactions

	KEGG		Reactome
	Pentose phosphate pathway Glutathione metabolism Metabolic pathways Carbon metabolism Central carbon metabolism in cancer Diabetic cardiomyopathy		TP53 Regulates Metabolic Genes Pentose phosphate pathway

Associated diseases

Show/Hide Causal Diseases (4)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia, Hemolytic, Anemia, Hemolytic, Acquired, Anemia, Hemolytic, Congenital, Anemia, Hemolytic, Congenital Nonspherocytic, Anemia, Microangiopathic, ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	3681550, 4794122, 8562390, 2502894, 2502894, 8562390, 4794122, 4125296, 10666231, 8562390, 2502894, 4794122, 16927025, 1562739, 22293322, 12367584, 7959695, 6714986, 28195434, 3393536, 25775246, 25141282, 20621077, 1889820, 21302115, 11243133, 24460025, 8118045, 22165289, 2849540, 27053284, 19594365, 22237549, 8807321, 7947239, 17726510, 25440321, 8193373, 8447319, 20602793, 12215013, 18177777, 16329560, 20007901, 1303182, 26823837, 2836867, 18270558, 16607506, 20203002, 7825590, 14505231, 16528451, 10221015, 29339739, 25541721, 12524354, 16777444, 23926329, 22963798, 2263506, 1611091, 3338798, 16155737, 11793482, 1945893, 29072585, 16143877, 26479991, 1536798, 2503817, 30315739, 30988594, 8733135, 27213370, 3446582, 21677401, 11024211, 23479361, 7789945, 8533762, 7949118, 16136268, 26060661, 25548459, 26226515, 22963789, 8611726, 11400791, 8490627, 16119988, 17959407, 23965028, 11499668, 21446359, 10502785, 1999409, 9452072, 15502081, 7947250, 7806085, 17587269, 2572288, 9589612, 8537082, 12497642, 21989994, 22906047, 27880809, 1805484, 2912069, 15315792, 22171972, 24586352, 11601226, 22018328, 19589177, 1303180, 21874587, 7858267, 10643148, 15349799, 1978555, 18329300, 5305539, 16088936, 18046504
Granulomatous disease	Autosomal Recessive Chronic Granulomatous Disease, Chronic granulomatous disease, Granulomatous Disease, Chronic, X-Linked	rs796065030, rs374402066, rs796065031, rs796065032, rs119103276, rs796065033, rs119103274, rs4029402, rs1563003964, rs119103270, rs1307080411, rs119103271, rs119103272, rs119103273, rs104894513, rs104894514, rs104894515, rs1567609091, rs104894511, rs28941476, rs1907271302, rs119103269, rs137854585, rs137854588, rs137854590, rs137854591, rs137854596, rs2146821097, rs137854592, rs1602175016, rs137854593, rs137854594, rs387906485, rs2146810847, rs1569478551, rs387906486, rs151344498, rs151344497, rs876657377, rs387906808, rs193922445, rs193922446, rs193922448, rs193922449, rs179363892, rs179363894, rs151344484, rs151344470, rs151344473, rs151344454, rs151344481, rs151344491, rs151344482, rs151344462, rs151344466, rs151344467, rs137854508, rs193922450, rs869025585, rs886039335, rs886039337, rs886041194, rs886041192, rs990043411, rs1057517730, rs1064794299, rs1453468510, rs28445840, rs145360423, rs1131691828, rs1556473078, rs1556464554, rs1556470775, rs1556464116, rs1556473119, rs1556469197, rs1556471620, rs1558098982, rs1290169467, rs1558092897, rs777621636, rs1569479943, rs1569480333, rs1567608830, rs1567608853, rs1439134665, rs1569480031, rs1569479953, rs766745748, rs782800778, rs1584370623, rs779809359, rs1472146831, rs1572151178, rs1352931329, rs1597374562, rs1602183698, rs200129367, rs1602186299, rs771926427, rs1602173465, rs1200078508, rs1602184316, rs1602183244, rs535897564, rs151344455, rs180899069, rs1929244686, rs1929497736, rs1929531349, rs1352107832, rs1929527785, rs1929245964, rs1939893821, rs763678131	4125296
Dermatitis	Contact Dermatitis	rs61816761, rs150597413, rs138726443, rs201356558, rs149484917, rs372754256, rs747301529, rs567795279, rs745915174	25724174
Hyperbilirubinemia	Unconjugated hyperbilirubinemia	rs34993780, rs587784535, rs797046090, rs797046091

Show/Hide Unknown Diseases (12)

Unknown
Disease name	Disease term	dbSNP ID	References
Bipolar disorder	Bipolar Disorder		9132265, 2322087, 10412184, 7760986, 17239488
Deficiency of glucose-6-phosphate dehydrogenase	Deficiency of glucose-6-phosphate dehydrogenase		10666231, 4125296, 4728291
Dysmorphic features	Dysmorphic features		2633878, 9427729, 18177777, 7283560, 15735168
Enzymopathy	Enzymopathy		1999409, 18177777
Favism	Favism		16143877, 12028056
Glucose-6-phosphate dehydrogenase deficiency	Class I glucose-6-phosphate dehydrogenase deficiency, NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency
Intravascular hemolysis	Intravascular hemolysis		5432368, 734759
Kidney failure	Kidney Failure, Acute		734759, 4794122, 602954
Malignant neoplasm	Malignant Neoplasms
Microangiopathic hemolytic anemia	Microangiopathic hemolytic anemia		8562390, 2502894, 4794122
Movement disorders	Movement Disorders		15735168, 2633878, 7283560, 9427729, 18177777
Acute kidney insufficiency	Acute Kidney Insufficiency		4794122, 602954, 734759

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