ENSG00000171954


Homo sapiens

Features
Gene ID: ENSG00000171954
  
Biological name :CYP4F22
  
Synonyms : CYP4F22 / cytochrome P450 family 4 subfamily F member 22 / Q6NT55
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: p13.12
Gene start: 15508493
Gene end: 15552317
  
Corresponding Affymetrix probe sets: 244692_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000269703
Ensembl peptide - ENSP00000469866
NCBI entrez gene - 126410     See in Manteia.
OMIM - 611495
RefSeq - XM_011527693
RefSeq - NM_173483
RefSeq - XM_011527692
RefSeq Peptide - NP_775754
swissprot - Q6NT55
Ensembl - ENSG00000171954
  
Related genetic diseases (OMIM): 604777 - Ichthyosis, congenital, autosomal recessive 5, 604777
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
 cyp4f3ENSDARG00000053530Danio rerio
 Cyp4f39ENSMUSG00000061126Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CYP4F3 / Q08477 / cytochrome P450 family 4 subfamily F member 3ENSG0000018652963
CYP4F2 / P78329 / cytochrome P450 family 4 subfamily F member 2ENSG0000018611563
Q9HBI6 / CYP4F11 / cytochrome P450 family 4 subfamily F member 11ENSG0000017190362
Q9HCS2 / CYP4F12 / cytochrome P450 family 4 subfamily F member 12ENSG0000018620461
CYP4F8 / P98187 / cytochrome P450 family 4 subfamily F member 8ENSG0000018652659
Q02928 / CYP4A11 / cytochrome P450 family 4 subfamily A member 11ENSG0000018704842
Q5TCH4 / CYP4A22 / cytochrome P450 family 4 subfamily A member 22ENSG0000016236541
CYP4B1 / P13584 / cytochrome P450 family 4 subfamily B member 1ENSG0000014297339
CYP4X1 / Q8N118 / cytochrome P450 family 4 subfamily X member 1ENSG0000018637737
CYP4Z1 / Q86W10 / cytochrome P450 family 4 subfamily Z member 1ENSG0000018616036
CYP4V2 / Q6ZWL3 / cytochrome P450 family 4 subfamily V member 2ENSG0000014547632


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:0006690 icosanoid metabolic process TAS
 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:0031090 organelle membrane IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle 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
Fatty acids
Miscellaneous substrates
Eicosanoids
Synthesis of Leukotrienes (LT) and Eoxins (EX)
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000083 Renal failure 
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 HP:0000164 Abnormality of the teeth "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators]
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 HP:0000232 Everted lower lip 
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 HP:0000389 Chronic otitis media 
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 HP:0000656 Ectropion "An abnormal turning outward of the lower eyelid." [HPO:sdoelken]
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 HP:0000958 Dry skin 
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 HP:0000962 Hyperkeratosis "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators]
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 HP:0000989 Pruritus "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001019 Erythroderma "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson]
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0001944 Dehydration 
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 HP:0002205 Recurrent respiratory infections 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0008064 Ichthyosiform abnormality of the skin 
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 HP:0008070 Sparse hair 
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 HP:0011039 Abnormality of the helix "An abnormality of the `helix` (FMA:60992)." [HPO:probinson]
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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 HP:0100679 Lack of skin elasticity 
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 HP:0100758 Gangrene "A serious and potentially life-threatening condition that arises when a considerable mass of body tissue dies (necrosis)." [ISBN:9780781770873]
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 HP:0100806 Sepsis 
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 HP:0100840 Aplasia/Hypoplasia of the eyebrow "Absence or underdevelopment of the eyebrow." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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