CYP4A11

cytochrome P450 family 4 subfamily A member 11, the group of Cytochrome P450 family 4

Basic information

Region (hg38): 1:46929177-46941484

Previous symbols: [ "CYP4A2" ]

Links

ENSG00000187048 ∙ NCBI:1579 ∙ OMIM:601310 ∙ HGNC:2642 ∙ Uniprot:Q02928 ∙ 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 CYP4A11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CYP4A11 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				1	1	2
missense			27	1		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	27	2	2

Variants in CYP4A11

This is a list of pathogenic ClinVar variants found in the CYP4A11 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-46930140-G-C		not specified	Uncertain significance (Sep 20, 2023)
1-46930162-G-C		not specified	Uncertain significance (Jul 07, 2022)
1-46930201-C-A		not specified	Uncertain significance (Jun 28, 2022)
1-46930214-G-A			Benign (Aug 17, 2018)
1-46932767-C-A		not specified	Uncertain significance (May 29, 2024)
1-46933040-C-A		not specified	Uncertain significance (May 26, 2024)
1-46933979-C-A		not specified	Uncertain significance (Mar 16, 2022)
1-46934005-C-A		not specified	Uncertain significance (May 28, 2024)
1-46934014-G-A		not specified	Uncertain significance (Aug 12, 2021)
1-46934179-G-A		not specified	Uncertain significance (May 01, 2022)
1-46934183-T-G		not specified	Uncertain significance (Aug 22, 2022)
1-46934197-C-T		not specified	Uncertain significance (Sep 06, 2022)
1-46934243-G-T		not specified	Uncertain significance (Oct 03, 2022)
1-46934274-G-C		not specified	Uncertain significance (May 12, 2024)
1-46934278-C-A		not specified	Uncertain significance (Dec 18, 2023)
1-46934294-C-T		not specified	Uncertain significance (Jan 03, 2024)
1-46934329-C-T		not specified	Uncertain significance (Jul 26, 2022)
1-46934340-G-C		not specified	Uncertain significance (May 30, 2024)
1-46934537-C-G		not specified	Uncertain significance (Dec 17, 2023)
1-46935024-A-C		not specified	Uncertain significance (May 20, 2024)
1-46935042-G-A		not specified	Uncertain significance (Aug 03, 2022)
1-46935059-C-T		not specified	Uncertain significance (Apr 25, 2023)
1-46935078-G-C		not specified	Uncertain significance (Oct 10, 2023)
1-46935131-G-C		not specified	Uncertain significance (Jan 17, 2024)
1-46935537-G-T		not specified	Uncertain significance (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CYP4A11	protein_coding	protein_coding	ENST00000310638	12	12308

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.09e-24	0.0000372	125563	0	185	125748	0.000736

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.12	346	292	1.18	0.0000152	3393
Missense in Polyphen		83	70.257	1.1814		937
Synonymous	0.296	112	116	0.965	0.00000612	1021
Loss of Function	-1.11	33	26.8	1.23	0.00000130	280

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000960	0.000960
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00180	0.00180
Finnish	0.00141	0.00139
European (Non-Finnish)	0.000539	0.000536
Middle Eastern	0.00180	0.00180
South Asian	0.000956	0.000948
Other	0.000499	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the omega- and (omega-1)-hydroxylation of various fatty acids such as laurate, myristate and palmitate. Has little activity toward prostaglandins A1 and E1. Oxidizes arachidonic acid to 20-hydroxyeicosatetraenoic acid (20-HETE). {ECO:0000269|PubMed:15611369, ECO:0000269|PubMed:1739747, ECO:0000269|PubMed:7679927}.
• Pathway: Retinol metabolism - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Etodolac Action Pathway;Ketoprofen Action Pathway;Ibuprofen Action Pathway;Rofecoxib Action Pathway;Acetylsalicylic Acid Action Pathway;Diflunisal Action Pathway;Leukotriene C4 Synthesis Deficiency;Acetaminophen Action Pathway;Celecoxib Action Pathway;Sulindac Action Pathway;Diclofenac Action Pathway;Ketorolac Action Pathway;Naproxen Action Pathway;Etoricoxib Action Pathway;Carprofen Action Pathway;Flurbiprofen Action Pathway;Fenoprofen Action Pathway;Antrafenine Action Pathway;Antipyrine Action Pathway;Lumiracoxib Action Pathway;Magnesium salicylate Action Pathway;Trisalicylate-choline Action Pathway;Nepafenac Action Pathway;Phenylbutazone Action Pathway;Lornoxicam Action Pathway;Salsalate Action Pathway;Tenoxicam Action Pathway;Tiaprofenic Acid Action Pathway;Tolmetin Action Pathway;Salicylic Acid Action Pathway;Salicylate-sodium Action Pathway;Oxaprozin Action Pathway;Valdecoxib Action Pathway;Nabumetone Action Pathway;Indomethacin Action Pathway;Meloxicam Action Pathway;Suprofen Action Pathway;Bromfenac Action Pathway;Mefenamic Acid Action Pathway;Arachidonic Acid Metabolism;Piroxicam Action Pathway;Fatty Acid Omega Oxidation;Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha);Constitutive Androstane Receptor Pathway;PPAR Alpha Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Nuclear Receptors in Lipid Metabolism and Toxicity;PPAR signaling pathway;Liver steatosis AOP;Oxidation by Cytochrome P450;Phase I - Functionalization of compounds;Metabolism of lipids;Synthesis of Leukotrienes (LT) and Eoxins (EX);Synthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE);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: 0.497

Intolerance Scores

• loftool: 0.904
• rvis_EVS: 0.23
• rvis_percentile_EVS: 68.52

Haploinsufficiency Scores

• pHI: 0.236
• hipred: N
• hipred_score: 0.112
• ghis: 0.411

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.735

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Cyp4a32

Gene ontology

• Biological process: long-chain fatty acid metabolic process;renal water homeostasis;pressure natriuresis;fatty acid metabolic process;leukotriene metabolic process;regulation of lipid metabolic process;arachidonic acid metabolic process;epoxygenase P450 pathway;positive regulation of icosanoid secretion;leukotriene B4 catabolic process;sodium ion homeostasis;oxidation-reduction process;omega-hydroxylase P450 pathway
• Cellular component: cytoplasm;endoplasmic reticulum membrane;apical plasma membrane;organelle membrane;intracellular membrane-bounded organelle
• Molecular function: monooxygenase activity;iron ion binding;arachidonic acid epoxygenase activity;alkane 1-monooxygenase activity;heme binding;leukotriene-B4 20-monooxygenase activity