ENSG00000049239
Homo sapiens | |
Features
| Gene ID: | ENSG00000049239 | | | | | Biological name : | H6PD | | | | | Synonyms : | H6PD / hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase / O95479 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 1 | | Strand: | 1 | | Band: | p36.22 | | Gene start: | 9234775 | | Gene end: | 9271337 | | | | | Corresponding Affymetrix probe sets: | 1555685_at (Human Genome U133 Plus 2.0 Array) 206933_s_at (Human Genome U133 Plus 2.0 Array) 221892_at (Human Genome U133 Plus 2.0 Array) 226160_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000366620
Ensembl peptide - ENSP00000473348
NCBI entrez gene - 9563
See in Manteia.
OMIM - 138090
RefSeq - XM_017002866
RefSeq - NM_001282587
RefSeq - NM_004285
RefSeq - XM_005263540
RefSeq - XM_006711052
RefSeq - XM_017002865
RefSeq Peptide - NP_001269516
RefSeq Peptide - NP_004276
swissprot - O95479
swissprot - R4GMU1
Ensembl - ENSG00000049239
| | | | | Related genetic diseases (OMIM): | 604931 - Cortisone reductase deficiency 1, 604931 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
Protein motifs (from Interpro)
| IPR001282 | Glucose-6-phosphate dehydrogenase | | IPR005900 | 6-phosphogluconolactonase, DevB-type | | IPR006148 | Glucosamine/galactosamine-6-phosphate isomerase | | IPR019796 | Glucose-6-phosphate dehydrogenase, active site | | IPR022674 | Glucose-6-phosphate dehydrogenase, NAD-binding | | IPR022675 | Glucose-6-phosphate dehydrogenase, C-terminal | | IPR036291 | NAD(P)-binding domain superfamily | | IPR037171 | NagB/RpiA transferase-like |
Gene Ontology (GO)
Pathways (from Reactome)
No match
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0000789 | Infertility | |
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| | HP:0000876 | Oligomenorrhea | |
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| | HP:0001007 | Hirsutism | "Abnormally increased hair growth." [HPO:curators] |
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| | HP:0001061 | Acne | |
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| | HP:0001513 | Obesity | "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] |
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Interacting proteins (from Reactome)
No match
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