ALOX15B

arachidonate 15-lipoxygenase type B, the group of Arachidonate lipoxygenases

Basic information

Region (hg38): 17:8039034-8049134

Links

ENSG00000179593 ∙ NCBI:247 ∙ OMIM:603697 ∙ HGNC:434 ∙ Uniprot:O15296 ∙ 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 ALOX15B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALOX15B 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
missense			50	5	1	56
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	50	6	1

Variants in ALOX15B

This is a list of pathogenic ClinVar variants found in the ALOX15B region.

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

Position	Type	Phenotype	Significance	ClinVar
17-8039252-A-T		not specified	Uncertain significance (Jan 18, 2022)
17-8039264-C-T		not specified	Uncertain significance (Dec 05, 2022)
17-8039274-A-G		not specified	Uncertain significance (Jan 29, 2024)
17-8039450-A-T		not specified	Uncertain significance (Jan 10, 2023)
17-8039476-G-C		not specified	Uncertain significance (Feb 16, 2023)
17-8039489-C-G		not specified	Uncertain significance (Aug 17, 2021)
17-8039506-C-T		not specified	Uncertain significance (Jan 03, 2024)
17-8039530-C-T		not specified	Uncertain significance (Jun 21, 2023)
17-8039550-C-A		not specified	Uncertain significance (Jun 16, 2023)
17-8039551-C-A		not specified	Uncertain significance (Jan 10, 2023)
17-8039931-G-A		not specified	Uncertain significance (May 09, 2023)
17-8039957-G-C		not specified	Uncertain significance (Nov 15, 2021)
17-8042407-A-G			Likely benign (Jul 31, 2018)
17-8042408-T-A		not specified	Uncertain significance (Jul 09, 2024)
17-8042421-G-A		not specified	Likely benign (May 05, 2023)
17-8042425-A-G		not specified	Uncertain significance (May 30, 2023)
17-8042490-G-A		not specified	Uncertain significance (Dec 03, 2024)
17-8042830-A-G		not specified	Uncertain significance (Apr 13, 2022)
17-8042861-A-C		not specified	Uncertain significance (Nov 18, 2022)
17-8044834-G-A		not specified	Likely benign (Sep 19, 2022)
17-8044880-T-C		not specified	Uncertain significance (Sep 08, 2024)
17-8044921-C-T			Likely benign (Dec 31, 2019)
17-8044935-C-A		not specified	Uncertain significance (Apr 18, 2023)
17-8044935-C-G		not specified	Uncertain significance (Jan 09, 2024)
17-8044939-G-T		not specified	Uncertain significance (Feb 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ALOX15B	protein_coding	protein_coding	ENST00000380183	14	10118

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.48e-18	0.0213	125389	0	359	125748	0.00143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.272	383	398	0.962	0.0000228	4349
Missense in Polyphen		165	160.53	1.0278		1849
Synonymous	1.42	145	168	0.861	0.00000968	1377
Loss of Function	0.689	30	34.4	0.873	0.00000175	350

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00419	0.00412
Ashkenazi Jewish	0.00189	0.00189
East Asian	0.00141	0.00141
Finnish	0.00103	0.00102
European (Non-Finnish)	0.00151	0.00150
Middle Eastern	0.00141	0.00141
South Asian	0.000563	0.000555
Other	0.00213	0.00212

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Converts arachidonic acid to 15S- hydroperoxyeicosatetraenoic acid/(15S)-HPETE. Also acts on linoleic acid to produce 13-hydroxyoctadecadienoic acid/13-HPODE. Has no detectable 8S-lipoxygenase activity but reacts with (8S)- HPETE to produce (8S,15S)-diHPETE. May regulate progression through the cell cycle and cell proliferation. May also regulate cytokine secretion by macrophages and therefore play a role in the immune response. May also regulate macrophage differentiation into proatherogenic foam cells. {ECO:0000269|PubMed:10625675, ECO:0000269|PubMed:11839751, ECO:0000269|PubMed:12704195, ECO:0000269|PubMed:16112079, ECO:0000269|PubMed:18067895, ECO:0000269|PubMed:22912809, ECO:0000269|PubMed:24497644}.
• Pathway: Serotonergic synapse - 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;Selenium Micronutrient Network;Eicosanoid Synthesis;nfat and hypertrophy of the heart ;Metabolism of lipids;Prostaglandin Leukotriene metabolism;Synthesis of 15-eicosatetraenoic acid derivatives;Arachidonic acid metabolism;Metabolism;Fatty acid metabolism (Consensus)

Intolerance Scores

• loftool: 0.0984
• rvis_EVS: 0.98
• rvis_percentile_EVS: 90.46

Haploinsufficiency Scores

• pHI: 0.116
• hipred: N
• hipred_score: 0.170
• ghis: 0.397

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.706

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Alox8

Gene ontology

• Biological process: lipid metabolic process;apoptotic process;negative regulation of cell population proliferation;positive regulation of macrophage derived foam cell differentiation;arachidonic acid metabolic process;lipoxygenase pathway;negative regulation of cell migration;prostate gland development;regulation of epithelial cell differentiation;positive regulation of peroxisome proliferator activated receptor signaling pathway;linoleic acid metabolic process;positive regulation of keratinocyte differentiation;negative regulation of cell cycle;negative regulation of growth;hepoxilin biosynthetic process;oxidation-reduction process;positive regulation of chemokine secretion
• Cellular component: nucleus;cytosol;cytoskeleton;plasma membrane;membrane;extrinsic component of membrane;extracellular exosome
• Molecular function: iron ion binding;calcium ion binding;lipid binding;linoleate 13S-lipoxygenase activity;arachidonate 8(S)-lipoxygenase activity;arachidonate 15-lipoxygenase activity