CYP4A22

cytochrome P450 family 4 subfamily A member 22, the group of Cytochrome P450 family 4

Basic information

Region (hg38): 1:47137435-47149727

Links

ENSG00000162365 ∙ NCBI:284541 ∙ OMIM:615341 ∙ HGNC:20575 ∙ Uniprot:Q5TCH4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CYP4A22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP4A22 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			34	1		35
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	1	0

Variants in CYP4A22

This is a list of pathogenic ClinVar variants found in the CYP4A22 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-47137517-G-A		not specified	Uncertain significance (Mar 25, 2024)
1-47137534-G-A		not specified	Uncertain significance (Mar 30, 2024)
1-47137538-T-C		not specified	Uncertain significance (Dec 27, 2023)
1-47137618-C-A		not specified	Uncertain significance (Oct 20, 2024)
1-47137625-C-A		not specified	Uncertain significance (Nov 20, 2024)
1-47137625-C-G		not specified	Uncertain significance (Mar 22, 2023)
1-47140780-T-C		not specified	Uncertain significance (Sep 12, 2023)
1-47140788-C-G		not specified	Likely benign (Sep 12, 2023)
1-47140883-A-G		not specified	Uncertain significance (May 17, 2023)
1-47142211-G-A		not specified	Uncertain significance (Dec 16, 2023)
1-47142225-G-A		not specified	Uncertain significance (May 04, 2023)
1-47143341-G-A		not specified	Uncertain significance (Jan 19, 2022)
1-47143358-T-G		not specified	Uncertain significance (Dec 16, 2023)
1-47143817-T-C		Pulmonary disease, chronic obstructive, susceptibility to	association (Jul 05, 2022)
1-47143832-T-G		not specified	Uncertain significance (Aug 11, 2022)
1-47143848-C-A		not specified	Uncertain significance (Aug 28, 2024)
1-47143851-T-A		not specified	Uncertain significance (Jan 12, 2024)
1-47143857-G-A		not specified	Uncertain significance (May 05, 2023)
1-47143887-G-A		not specified	Uncertain significance (Jun 29, 2023)
1-47143889-G-A		not specified	Uncertain significance (Oct 30, 2023)
1-47143914-C-T		not specified	Uncertain significance (Jan 09, 2024)
1-47144397-G-T		not specified	Uncertain significance (Jun 17, 2022)
1-47144407-G-A		not specified	Uncertain significance (Nov 06, 2023)
1-47144417-A-T		not specified	Uncertain significance (Dec 20, 2021)
1-47144642-C-G		not specified	Uncertain significance (Feb 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP4A22	protein_coding	protein_coding	ENST00000371891	12	12307

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.42e-29	6.79e-7	125086	3	659	125748	0.00264

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.17	352	295	1.19	0.0000159	3386
Missense in Polyphen		96	84.84	1.1315		1150
Synonymous	0.201	114	117	0.976	0.00000625	1020
Loss of Function	-2.21	37	25.1	1.48	0.00000123	268

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0183	0.0182
Ashkenazi Jewish	0.00	0.00
East Asian	0.0104	0.0103
Finnish	0.00314	0.00315
European (Non-Finnish)	0.000438	0.000431
Middle Eastern	0.0104	0.0103
South Asian	0.000590	0.000588
Other	0.00116	0.00114

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate and palmitate. Shows no activity towards arachidonic acid and prostaglandin A1. Lacks functional activity in the kidney and does not contribute to renal 20-hydroxyeicosatetraenoic acid (20-HETE) biosynthesis. {ECO:0000269|PubMed:10860550, ECO:0000269|PubMed:15611369}.
• Pathway: Fatty acid degradation - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Oxidation by Cytochrome P450;Phase I - Functionalization of compounds;Metabolism of lipids;Synthesis of Leukotrienes (LT) and Eoxins (EX);Arachidonic acid metabolism;Fatty acids;Eicosanoids;Miscellaneous substrates;Cytochrome P450 - arranged by substrate type;Biological oxidations;Metabolism;Fatty acid metabolism;Arachidonic acid metabolism (Consensus)

Recessive Scores

• pRec: 0.182

Intolerance Scores

• loftool: 0.871
• rvis_EVS: 3.2
• rvis_percentile_EVS: 99.35

Haploinsufficiency Scores

• pHI: 0.281
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0858

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Cyp4a12b

Gene ontology

• Biological process: lipid hydroxylation;oxidation-reduction process;omega-hydroxylase P450 pathway
• Cellular component: extracellular space;endoplasmic reticulum membrane;organelle membrane
• Molecular function: iron ion binding;heme binding;arachidonic acid omega-hydroxylase activity;laurate hydroxylase activity;16-hydroxypalmitate dehydrogenase activity