ALOX5

arachidonate 5-lipoxygenase, the group of Arachidonate lipoxygenases

Basic information

Region (hg38): 10:45374175-45446119

Links

ENSG00000012779 ∙ NCBI:240 ∙ OMIM:152390 ∙ HGNC:435 ∙ Uniprot:P09917 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Asthma, diminished response to antileukotriene treatment in	AD	Pharmacogenomic	Variants may have pharmacogenomic importance	General	9062372; 9698605; 10369259; 14702425

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ALOX5 gene.

• Inborn genetic diseases (20 variants)
• not provided (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALOX5 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				3	1	4
missense			20	1		21
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	20	5	1

Variants in ALOX5

This is a list of pathogenic ClinVar variants found in the ALOX5 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-45374343-A-G		not specified	Uncertain significance (Feb 16, 2023)
10-45374368-C-T		not specified	Uncertain significance (Jan 03, 2022)
10-45382542-C-T			Likely benign (Jul 12, 2018)
10-45382569-C-T			Likely benign (Jun 29, 2018)
10-45382634-A-G		not specified	Uncertain significance (Jan 06, 2023)
10-45382650-C-T			Benign (Aug 15, 2018)
10-45382673-A-C		not specified	Uncertain significance (Jun 07, 2023)
10-45382679-G-A		not specified	Uncertain significance (Sep 01, 2021)
10-45395859-G-T		not specified	Uncertain significance (Nov 30, 2022)
10-45395867-G-A		not specified	Uncertain significance (Mar 07, 2024)
10-45395882-A-G		not specified	Uncertain significance (Nov 18, 2023)
10-45395902-C-T			Likely benign (May 03, 2018)
10-45395903-G-A		not specified	Uncertain significance (Jan 10, 2023)
10-45395920-C-T		not specified	Uncertain significance (Jan 09, 2023)
10-45412232-C-A		not specified	Uncertain significance (Apr 08, 2022)
10-45412249-T-G		Breast ductal adenocarcinoma	Uncertain significance (Jul 20, 2015)
10-45424056-C-G		not specified	Uncertain significance (Nov 12, 2021)
10-45424972-A-G		not specified	Uncertain significance (Oct 25, 2023)
10-45425104-G-A		not specified	Uncertain significance (Dec 26, 2023)
10-45428638-G-A			Likely benign (Aug 01, 2018)
10-45428663-G-A		not specified	Uncertain significance (Sep 23, 2023)
10-45428705-G-A		not specified	Uncertain significance (Nov 05, 2021)
10-45428773-C-T			Likely benign (Jul 21, 2017)
10-45440444-G-A			not provided (-)
10-45440451-G-A		Inborn genetic diseases	Uncertain significance (Jan 18, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALOX5	protein_coding	protein_coding	ENST00000374391	14	71901

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000121	1.00	125713	0	35	125748	0.000139

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.09	363	427	0.851	0.0000278	4413
Missense in Polyphen		130	177.85	0.73096		1931
Synonymous	-0.230	184	180	1.02	0.0000129	1246
Loss of Function	3.38	17	40.1	0.424	0.00000232	392

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000451	0.000449
Ashkenazi Jewish	0.00	0.00
East Asian	0.000166	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000166	0.000163
South Asian	0.000261	0.000261
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the first step in leukotriene biosynthesis, and thereby plays a role in inflammatory processes. {ECO:0000269|PubMed:21233389}.
• Pathway: Fc epsilon RI signaling pathway - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Arachidonic acid metabolism - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);Leukotriene modifiers pathway, Pharmacodynamics;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;Selenium Micronutrient Network;Eicosanoid Synthesis;Vitamin D Receptor Pathway;Interleukin-4 and 13 signaling;Neutrophil degranulation;eicosanoid metabolism;Metabolism of lipids;Prostaglandin Leukotriene metabolism;Synthesis of Leukotrienes (LT) and Eoxins (EX);Synthesis of 5-eicosatetraenoic acids;Arachidonic acid metabolism;Leukotriene metabolism;Synthesis of Lipoxins (LX);Innate Immune System;Immune System;Metabolism;Biosynthesis of electrophilic ?-3 PUFA oxo-derivatives;Biosynthesis of E-series 18(S)-resolvins;Biosynthesis of E-series 18(R)-resolvins;Biosynthesis of EPA-derived SPMs;Biosynthesis of D-series resolvins;Biosynthesis of aspirin-triggered D-series resolvins;Biosynthesis of maresins;Biosynthesis of DHA-derived SPMs;Biosynthesis of DPAn-3-derived protectins and resolvins;Biosynthesis of DPAn-3-derived 13-series resolvins;Biosynthesis of DPAn-3 SPMs;Biosynthesis of DPA-derived SPMs;Biosynthesis of specialized proresolving mediators (SPMs);Fatty acid metabolism;Putative anti-Inflammatory metabolites formation from EPA;aspirin triggered resolvin E biosynthesis;leukotriene biosynthesis;aspirin triggered resolvin D biosynthesis;lipoxin biosynthesis;aspirin-triggered lipoxin biosynthesis;IL5;Biosynthesis of DPAn-3-derived maresins;Arachidonic acid metabolism;resolvin D biosynthesis (Consensus)

Recessive Scores

• pRec: 0.388

Intolerance Scores

• loftool: 0.255
• rvis_EVS: -0.95
• rvis_percentile_EVS: 9.21

Haploinsufficiency Scores

• pHI: 0.583
• hipred: Y
• hipred_score: 0.680
• ghis: 0.536

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.970

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Alox5
• Phenotype: hematopoietic system phenotype; immune system phenotype; skeleton phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype

Gene ontology

• Biological process: leukotriene production involved in inflammatory response;leukotriene metabolic process;cytokine-mediated signaling pathway;leukotriene biosynthetic process;lipoxygenase pathway;interleukin-18-mediated signaling pathway;long-chain fatty acid biosynthetic process;neutrophil degranulation;oxidation-reduction process
• Cellular component: extracellular region;extracellular space;nuclear envelope;nuclear envelope lumen;nucleoplasm;cytosol;nuclear matrix;nuclear membrane;secretory granule lumen;ficolin-1-rich granule lumen
• Molecular function: arachidonate 5-lipoxygenase activity;iron ion binding;protein binding