Metazoan complexes |
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Details of G6PD gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| G6PD | --- | P11413 | G6PD_HUMAN | 2539 | ENSG00000160211 ENSG00000269087 | Glucose-6-phosphate 1-dehydrogenase | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 305900 |
Phenotypes
Abnormality of blood and blood-forming tissues, Abnormality of carbohydrate metabolism/homeostasis, Abnormality of erythrocytes, Abnormality of glycolysis, Abnormality of metabolism/homeostasis, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the biliary system, Abnormality of the gallbladder, Abnormality of the immune system, Abnormality of the integument, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the skin, Abnormality of the spleen, All, Anemia, Anemia due to reduced life span of red cells, Anemia of inadequate production, Cholecystitis, Cholelithiasis, Cholestasis, Congenital hemolytic anemia, Decreased glucosephosphate isomerase activity, Dermatological manifestations of systemic disorders, Drug-sensitive hemolytic anemia, Episodic hemolytic anemia, Generalized abnormality of skin, Hemolytic anemia, Jaundice, Nonspherocytic hemolytic anemia, Normochromic anemia, Normocytic anemia, Phenotypic abnormality, Splenomegaly, Visceromegaly.
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
G6pdx | Zw | gspd-1 | Sp-G6pdx |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
G6PD | C6orf211 | 0.19997617 | G6PD | C6orf211 | cpx229 | no | no | no | Novel |
G6PD | ENO2 | 0.062630991 | G6PD | ENO2 | cpx949 | no | no | no | Novel |
BLMH | G6PD | 0.45034465 | BLMH | G6PD | cpx229 | no | no | no | Novel |
SEPHS1 | G6PD | 0.093562276 | SEPHS1 | G6PD | cpx881 | no | no | no | Novel |
NDRG1 | G6PD | 0.426121573 | NDRG1 | G6PD | cpx229 | no | no | no | Novel |
G6PD | UNC13D | 0.201984077 | G6PD | UNC13D | cpx229 | no | no | no | Novel |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
G6PD | ARFIP1 | 0.122756358 | G6PD | ARFIP1 |
G6PD | IDH2 | 0.10488501 | G6PD | IDH2 |
G6PD | HSPA9 | 0.139791076 | G6PD | HSPA9 |
RAD23B | G6PD | 0.071945173 | RAD23B | G6PD |
G6PD | UFM1 | 0.071723566 | G6PD | UFM1 |
G6PD | HSPB1 | 0.139158265 | G6PD | HSPB1 |
G6PD | DUT | 0.077356149 | G6PD | DUT |
G6PD | XPO1 | 0.092668598 | G6PD | XPO1 |
TSTA3 | G6PD | 0.121291759 | TSTA3 | G6PD |
G6PD | CDA | 0.118684163 | G6PD | CDA |
G6PD | RPE | 0.073227124 | G6PD | RPE |
G6PD | HARS | 0.071311735 | G6PD | HARS |
G6PD | PGAM1 | 0.073225047 | G6PD | PGAM1 |
G6PD | MYO6 | 0.086319113 | G6PD | MYO6 |
G6PD | FDPS | 0.204537863 | G6PD | FDPS |
G6PD | PDXK | 0.077343263 | G6PD | PDXK |
G6PD | TANGO2 | 0.090774644 | G6PD | TANGO2 |