Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	126410
Gene name	Cytochrome P450 family 4 subfamily F member 22
Gene symbol	CYP4F22
Synonyms (NCBI Gene)	ARCI5INLNELI3
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

Show/Hide all (46)

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

Show/Hide all (28)

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

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IDA	26056268
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004497	Function	Monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IBA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	26056268
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006690	Process	Icosanoid metabolic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	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
GO:0046513	Process	Ceramide biosynthetic process	IMP	26056268
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
611495	26820	ENSG00000171954

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

Interactions

View interactions

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive congenital ichthyosis 5	Pathogenic; Likely pathogenic	rs2144518363, rs118203935, rs118203936, rs118203937, rs1297078466, rs531800013, rs199892192, rs745368359, rs762667660, rs118091316, rs369811073, rs1568357749, rs773886415, rs1382435790, rs770500550 View all (27 more)	RCV002052170 RCV000000957 RCV000000958 RCV000000959 RCV002262186 View all (38 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYP4F22-related disorder	Likely pathogenic; Pathogenic	rs118091316	RCV004758722	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lamellar ichthyosis	Pathogenic; Likely pathogenic	rs118203935, rs118203937, rs1971446149, rs118091316, rs369811073, rs1382435790, rs768098854, rs767352854, rs769229606	RCV001582456 RCV001731266 RCV002308708 RCV004689851 RCV005240452 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Atopic eczema	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bladder exstrophy-epispadias-cloacal extrophy complex	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital ichthyosiform erythroderma	Uncertain significance; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, ATOPIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosis	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LAMELLAR ICHTHYOSIS, TYPE 3	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (31)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abetalipoproteinemia	Abetalipoproteinemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	21668430, 27449533, 30011118, 31020658, 31356814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	BEFREE	21668430, 27449533, 30011118, 31020658, 31356814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	ORPHANET_DG	22739337		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Nonbullous Ichthyosiform Erythroderma	Congenital Nonbullous Ichthyosiform Erythroderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	32425885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	32425885	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectropion	Ectropion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gangrene	Gangrene	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease Perinatal Lethal	Gaucher disease	Pubtator	27449533, 36332686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	27449533	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	31020658, 31356814		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyoses	Ichthyosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ichthyosiform Erythroderma, Congenital	Ichthyosis Congenita	BEFREE	21668430, 27449533, 30011118, 31356814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis	Ichthyosis	Pubtator	26056268, 27025581, 34983512, 36332686	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ICHTHYOSIS, LAMELLAR, 3	Ichthyosis	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive	Ichthyosis Congenita	UNIPROT_DG	16436457, 26056268		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive	Ichthyosis Congenita	CLINVAR_DG	16436457, 18034255, 23621129, 23871423, 24397709, 25998749, 26762237, 27025581, 27449533, 30011118		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ichthyosis, Nonlamellar and Nonerythrodermic, Congenital, Autosomal Recessive	Ichthyosis Congenita	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lamellar ichthyosis	Lamellar ichthyosis	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lamellar ichthyosis type 3	Lamellar ichthyosis	Pubtator	27449533, 30600594, 32069299, 34983512, 36980989	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Self-Healing Collodion Baby	Self-Healing Collodion Baby	BEFREE	26646773		★★★★★ ★☆☆☆☆ Found in Text Mining only

CYP4F22 (cytochrome P450 family 4 subfamily F member 22)