CYP4F22 (cytochrome P450 family 4 subfamily F member 22)

Gene

• Entrez ID: 126410
• Gene name: Cytochrome P450 family 4 subfamily F member 22
• Gene symbol: CYP4F22
• Synonyms: ARCI5, INLNE, LI3
• Chromosome: 19
• Chromosome location: 19p13.12
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This gene is part

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs118091316	C>G,T	Benign, pathogenic	Synonymous variant, coding sequence variant, missense variant
rs118203935	C>T	Pathogenic	Coding sequence variant, missense variant
rs118203936	C>G	Pathogenic	Coding sequence variant, missense variant
rs118203937	G>A,T	Pathogenic	Coding sequence variant, missense variant
rs144961059	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs200581968	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs201129618	C>T	Pathogenic	Missense variant, coding sequence variant
rs369811073	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs370734976	T>C	Pathogenic	Missense variant, coding sequence variant
rs531800013	->G	Pathogenic	Coding sequence variant, frameshift variant
rs572278771	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs745368359	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs745942843	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs749972738	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs751937099	TGTC>-	Pathogenic	Frameshift variant, coding sequence variant
rs755885838	C>T	Pathogenic	Coding sequence variant, missense variant
rs760727576	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs762667660	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs768098854	C>T	Pathogenic	Missense variant, coding sequence variant
rs769229606	G>A	Pathogenic	Missense variant, coding sequence variant
rs770500550	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs773886415	G>A	Pathogenic	Splice donor variant
rs776275777	G>A	Pathogenic	Missense variant, coding sequence variant
rs1045109000	A>G	Pathogenic	Splice acceptor variant
rs1057518087	C>G	Likely-pathogenic	Intron variant
rs1085307654	G>A	Likely-pathogenic	Splice acceptor variant
rs1159994392	C>A,T	Pathogenic	Coding sequence variant, missense variant, synonymous variant
rs1167473603	A>G	Pathogenic	Coding sequence variant, missense variant
rs1360295659	G>A	Pathogenic	Stop gained, coding sequence variant
rs1368806849	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1382435790	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1403531884	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1449980834	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1568357749	G>A	Pathogenic	Splice donor variant
rs1568360348	TTTGACA>CTTGATT	Pathogenic	Coding sequence variant, missense variant
rs1568360387	G>C	Pathogenic	Intron variant
rs1568360475	A>T	Pathogenic	Splice acceptor variant
rs1568360526	G>T	Pathogenic	Coding sequence variant, missense variant
rs1568360554	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568361250	A>C	Pathogenic	Coding sequence variant, missense variant
rs1568362605	G>A	Pathogenic	Splice acceptor variant
rs1568362644	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1568364101	TATCTCCATTCTCCC>-	Pathogenic	Intron variant
rs1568364107	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1568364117	C>A	Pathogenic	Coding sequence variant, missense variant
rs1568365205	C>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017466	hsa-miR-335-5p	Microarray	18185580
MIRT921662	hsa-miR-1182	CLIP-seq
MIRT921663	hsa-miR-1252	CLIP-seq
MIRT921664	hsa-miR-1254	CLIP-seq
MIRT921665	hsa-miR-28-5p	CLIP-seq
MIRT921666	hsa-miR-3116	CLIP-seq
MIRT921667	hsa-miR-3139	CLIP-seq
MIRT921668	hsa-miR-3179	CLIP-seq
MIRT921669	hsa-miR-3202	CLIP-seq
MIRT921670	hsa-miR-4476	CLIP-seq
MIRT921671	hsa-miR-4533	CLIP-seq
MIRT921672	hsa-miR-4746-3p	CLIP-seq
MIRT921673	hsa-miR-550a	CLIP-seq
MIRT921674	hsa-miR-624	CLIP-seq
MIRT921675	hsa-miR-661	CLIP-seq
MIRT921676	hsa-miR-665	CLIP-seq
MIRT921677	hsa-miR-708	CLIP-seq
MIRT1973046	hsa-miR-193a-5p	CLIP-seq
MIRT2208697	hsa-miR-1275	CLIP-seq
MIRT2208698	hsa-miR-3121-5p	CLIP-seq
MIRT2208699	hsa-miR-3140-3p	CLIP-seq
MIRT2208700	hsa-miR-4259	CLIP-seq
MIRT2208701	hsa-miR-4651	CLIP-seq
MIRT2208702	hsa-miR-4665-5p	CLIP-seq
MIRT2208703	hsa-miR-4778-5p	CLIP-seq
MIRT2208704	hsa-miR-501-5p	CLIP-seq
MIRT2208705	hsa-miR-544	CLIP-seq
MIRT2208706	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IDA	26056268
GO:0004497	Function	Monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005789	Component	Endoplasmic reticulum membrane	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	26056268
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006690	Process	Icosanoid metabolic process	TAS
GO:0016021	Component	Integral component of membrane	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IEA
GO:0046513	Process	Ceramide biosynthetic process	IBA	21873635
GO:0046513	Process	Ceramide biosynthetic process	IMP	26056268

Other IDs

• MIM: 611495
• HGNC: 26820
• e!Ensembl: ENSG00000171954

Protein

• UniProt ID: Q6NT55
• Protein name: Ultra-long-chain fatty acid omega-hydroxylase (EC 1.14.14.177) (Cytochrome P450 4F22)
• Protein function: A cytochrome P450 monooxygenase involved in epidermal ceramide biosynthesis. Hydroxylates the terminal carbon (omega-hydroxylation) of ultra-long-chain fatty acyls (C28-C36) prior to ceramide synthesis (PubMed:26056268). Contributes to the synth
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	60 → 524	Cytochrome P450	Domain

• Sequence:

  MLPITDRLLHLLGLEKTAFRIYAVSTLLLFLLFFLFRLLLRFLRLCRSFYITCRRLRCFP
  QPPRRNWLLGHLGMYLPNEAGLQDEKKVLDNMHHVLLVWMGPVLPLLVLVHPDYIKPLLG
  ASAAIAPKDDLFYGFLKPWLGDGLLLSKGDKWSRHRRLLTPAFHFDILKPYMKIFNQSAD
  IMHAKWRHLAEGSAVSLDMFEHISLMTLDSLQKCVFSYNSNCQEKMSDYISAIIELSALS
  VRRQYRLHHYLDFIYYRSADGRRFRQACDMVHHFTTEVIQERRRALRQQGAEAWLKAKQG
  KTLDFIDVLLLARDEDGKELSDEDIRAEADTFMFEGHDTTSSGISWMLFNLAKYPEYQEK
  CREEIQEVMKGRELEELEWDDLTQLPFTTMCIKESLRQYPPVTLVSRQCTEDIKLPDGRI
  IPKGIICLVSIYGTHHNPTVWPDSKVYNPYRFDPDNPQQRSPLAYVPFSAGPRNCIGQSF
  AMAELRVVVALTLLRFRLSVDRTRKVRRKPELILRTENGLWLKVEPLPPRA

• Sequence length: 531

Pathways

Reactome:

Fatty acids
Miscellaneous substrates
Eicosanoids
Synthesis of Leukotrienes (LT) and Eoxins (EX)
Defective CYP4F22 causes Ichthyosis, congenital, autosomal recessive 5 (ARCI5)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hypotrichosis	Hypotrichosis	rs121434306, rs121434307, rs121434308, rs121434309, rs1325804776, rs267606775, rs786200875, rs1568062215, rs267606776, rs1462595806, rs267606777, rs267606659, rs2147483647, rs559648418, rs121917819, rs121917820, rs387906382, rs267606867, rs267606868, rs267606869, rs201868115, rs587776925, rs587777527, rs587777545, rs766783183, rs879255262, rs201249971, rs768448663, rs1566212378, rs1249530918, rs1260995701, rs1569039353, rs1827030121
Ichthyosis	Ichthyoses, ICHTHYOSIS, LAMELLAR, 3	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Lamellar ichthyosis	Lamellar ichthyosis	rs118203935, rs118203937, rs199422216, rs199422217, rs28940270, rs137853289, rs137853134, rs121918716, rs121918717, rs121918718, rs121918720, rs121918722, rs121918723, rs121918725, rs121918731, rs121918732, rs397514525, rs143473912, rs397514532, rs199766569, rs587779765, rs587776384, rs370031870, rs757520757, rs752509098, rs142634031, rs886041250, rs200491579, rs147149459, rs781006633, rs370356566, rs781053760, rs199503269, rs367699137, rs938583000, rs1554138062, rs771820315, rs760429286, rs781631629, rs760309815, rs779287673, rs1322979131, rs1296165092, rs118091316, rs369811073, rs1382435790, rs768098854, rs767352854, rs769229606, rs1567982673, rs761068277, rs538068583, rs543521135, rs1230140208, rs1311967606, rs1296095311, rs375688767
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease name	Disease term	dbSNP ID	References
Abetalipoproteinemia	Abetalipoproteinemia
Congenital nonbullous ichthyosiform erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma		22739337
Dwarfism	Dwarfism
Ectropion	Ectropion
Exfoliative dermatitis	Exfoliative dermatitis
Gangrene	Gangrene
Hyperkeratosis	Hyperkeratosis
Ichthyosis congenita	Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive		26056268, 27025581, 16436457, 25998749, 23871423, 30011118, 27449533, 26762237, 24397709, 23621129, 18034255
Impaired cognition	Impaired cognition
Otitis media	Chronic otitis media	rs601338, rs1047781, rs1800028
Parakeratosis	Parakeratosis