ENSG00000255974


Homo sapiens

Features
Gene ID: ENSG00000255974
  
Biological name :CYP2A6
  
Synonyms : CYP2A6 / cytochrome P450 family 2 subfamily A member 6 / P11509
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.2
Gene start: 40843538
Gene end: 40850447
  
Corresponding Affymetrix probe sets: 1494_f_at (Human Genome U133 Plus 2.0 Array)   207244_x_at (Human Genome U133 Plus 2.0 Array)   211295_x_at (Human Genome U133 Plus 2.0 Array)   214320_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000301141
Ensembl peptide - ENSP00000472905
NCBI entrez gene - 1548     See in Manteia.
OMIM - 122720
RefSeq - NM_000762
RefSeq Peptide - NP_000753
swissprot - P11509
swissprot - M0R2Z4
Ensembl - ENSG00000255974
  
Related genetic diseases (OMIM): 122700 - Coumarin resistance, 122700
  188890 - {Nicotine addiction, protection from}, 188890
  211980 - {Lung cancer, resistance to}, 211980
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)
Ortholog nameID Species
 CYP2C9ENSDARG00000101423Danio rerio
 Cyp2a4ENSMUSG00000074254Mus musculus
 Cyp2a5ENSMUSG00000005547Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q16696 / CYP2A13 / cytochrome P450 family 2 subfamily A member 13ENSG0000019783894
CYP2A7 / P20853 / cytochrome P450 family 2 subfamily A member 7ENSG0000019807794
CYP2F1 / P24903 / cytochrome P450 family 2 subfamily F member 1ENSG0000019744652
CYP2B6 / P20813 / cytochrome P450 family 2 subfamily B member 6ENSG0000019740851
P33261 / CYP2C19 / cytochrome P450 family 2 subfamily C member 19ENSG0000016584151
P33260 / CYP2C18 / cytochrome P450 family 2 subfamily C member 18ENSG0000010824249
CYP2C9 / P11712 / cytochrome P450 family 2 subfamily C member 9ENSG0000013810949
CYP2C8 / P10632 / cytochrome P450 family 2 subfamily C member 8ENSG0000013811549
CYP2E1 / P05181 / cytochrome P450 family 2 subfamily E member 1ENSG0000013064947
AL583836.1ENSG0000027649030


Protein motifs (from Interpro)
Interpro ID Name
 IPR001128  Cytochrome P450
 IPR002401  Cytochrome P450, E-class, group I
 IPR008067  Cytochrome P450, E-class, group I, CYP2A-like
 IPR017972  Cytochrome P450, conserved site
 IPR036396  Cytochrome P450 superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0008202 steroid metabolic process IMP
 biological_processGO:0009804 coumarin metabolic process TAS
 biological_processGO:0017144 drug metabolic process IMP
 biological_processGO:0019373 epoxygenase P450 pathway IBA
 biological_processGO:0042738 exogenous drug catabolic process IDA
 biological_processGO:0046226 coumarin catabolic process IDA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0005881 cytoplasmic microtubule IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0004497 monooxygenase activity IEA
 molecular_functionGO:0005506 iron ion binding IEA
 molecular_functionGO:0008389 coumarin 7-hydroxylase activity TAS
 molecular_functionGO:0008392 arachidonic acid epoxygenase activity IBA
 molecular_functionGO:0008395 steroid hydroxylase activity IBA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
 molecular_functionGO:0016712 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IEA
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0020037 heme binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Xenobiotics
CYP2E1 reactions


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001871 Hematological abnormality 
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 HP:0001939 Metabolism abnormality 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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