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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	126410
Gene name Gene Name - the full gene name approved by the HGNC.	Cytochrome P450 family 4 subfamily F member 22
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	CYP4F22
Synonyms (NCBI Gene) Gene synonyms aliases	ARCI5, INLNE, LI3
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.12
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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)

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
congenital ichthyosis	Autosomal recessive congenital ichthyosis 5	rs745368359, rs1568364117, rs776275777, rs762667660, rs200581968, rs1568360348, rs755885838, rs118091316, rs144961059, rs1568360387, rs370734976, rs1568365205, rs1568360475, rs1568362605, rs369811073 View all (23 more)	N/A
Lamellar ichthyosis	lamellar ichthyosis	rs767352854, rs118091316, rs369811073, rs118203935, rs769229606, rs118203937, rs1382435790, rs768098854	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Bladder Exstrophy And Epispadias Complex	Bladder exstrophy-epispadias-cloacal extrophy complex	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Cataract and congenital ichthyosis	Associate	26056268
Diabetes Mellitus Type 1	Associate	32425885
Diabetic Nephropathies	Associate	32425885
Gaucher Disease Perinatal Lethal	Associate	27449533, 36332686
Hyperplasia	Associate	27449533
Ichthyosis	Associate	26056268, 27025581, 34983512, 36332686
Lamellar ichthyosis type 3	Associate	27449533, 30600594, 32069299, 34983512, 36980989
Self Healing Collodion Baby	Associate	36332686

CYP4F22 (cytochrome P450 family 4 subfamily F member 22)