ENSG00000145476


Homo sapiens

Features
Gene ID: ENSG00000145476
  
Biological name :CYP4V2
  
Synonyms : CYP4V2 / cytochrome P450 family 4 subfamily V member 2 / Q6ZWL3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q35.1
Gene start: 186191520
Gene end: 186213456
  
Corresponding Affymetrix probe sets: 226745_at (Human Genome U133 Plus 2.0 Array)   228391_at (Human Genome U133 Plus 2.0 Array)   229959_at (Human Genome U133 Plus 2.0 Array)   235719_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368079
NCBI entrez gene - 285440     See in Manteia.
OMIM - 608614
RefSeq - XM_017008037
RefSeq - NM_207352
RefSeq - XM_005262935
RefSeq Peptide - NP_997235
swissprot - Q6ZWL3
Ensembl - ENSG00000145476
  
Related genetic diseases (OMIM): 210370 - Bietti crystalline corneoretinal dystrophy, 210370
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
 cyp4v7ENSDARG00000061585Danio rerio
 cyp4v8ENSDARG00000062132Danio rerio
 CYP4V2ENSGALG00000013535Gallus gallus
 Cyp4v3ENSMUSG00000079057Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CYP4F2 / P78329 / cytochrome P450 family 4 subfamily F member 2ENSG0000018611534
Q9HBI6 / CYP4F11 / cytochrome P450 family 4 subfamily F member 11ENSG0000017190333
Q6NT55 / CYP4F22 / cytochrome P450 family 4 subfamily F member 22ENSG0000017195433
CYP4F8 / P98187 / cytochrome P450 family 4 subfamily F member 8ENSG0000018652633
CYP4F3 / Q08477 / cytochrome P450 family 4 subfamily F member 3ENSG0000018652932
Q9HCS2 / CYP4F12 / cytochrome P450 family 4 subfamily F member 12ENSG0000018620432
Q02928 / CYP4A11 / cytochrome P450 family 4 subfamily A member 11ENSG0000018704831
CYP4B1 / P13584 / cytochrome P450 family 4 subfamily B member 1ENSG0000014297331
CYP4Z1 / Q86W10 / cytochrome P450 family 4 subfamily Z member 1ENSG0000018616030
CYP4X1 / Q8N118 / cytochrome P450 family 4 subfamily X member 1ENSG0000018637730
Q5TCH4 / CYP4A22 / cytochrome P450 family 4 subfamily A member 22ENSG0000016236530


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


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001523 retinoid metabolic process TAS
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0010430 fatty acid omega-oxidation IDA
 biological_processGO:0016125 sterol metabolic process TAS
 biological_processGO:0050896 response to stimulus IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0004497 monooxygenase activity TAS
 molecular_functionGO:0005506 iron ion binding IEA
 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:0020037 heme binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
Endogenous sterols
The canonical retinoid cycle in rods (twilight vision)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0000529 Progressive visual loss 
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 HP:0000533 Chorioretinal atrophy 
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 HP:0000546 Retinal degeneration 
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 HP:0001133 Constricted visual fields 
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 HP:0001871 Hematological abnormality 
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 HP:0007675 Progressive night blindness 
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 HP:0007880 Marginal corneal dystrophy 
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 HP:0011003 Severe Myopia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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