GeneBe

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.

  • not_specified (106 variants)
  • not_provided (6 variants)

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. These statistics are base on transcript: NM_000001141.3. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
101
clinvar
7
clinvar
1
clinvar
 109
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 101 9 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ALOX15Bprotein_codingprotein_codingENST00000380183 1410118
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.48e-180.021312538903591257480.00143
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.2723833980.9620.00002284349
Missense in Polyphen165160.531.02781849
Synonymous1.421451680.8610.000009681377
Loss of Function0.6893034.40.8730.00000175350

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004190.00412
Ashkenazi Jewish0.001890.00189
East Asian0.001410.00141
Finnish0.001030.00102
European (Non-Finnish)0.001510.00150
Middle Eastern0.001410.00141
South Asian0.0005630.000555
Other0.002130.00212

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Alox8
Phenotype

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