Gene Gene information from NCBI Gene database.
Entrez ID 59344
Gene name Arachidonate epidermal lipoxygenase 3
Gene symbol ALOXE3
Synonyms (NCBI Gene)
ARCI3E-LOXLI5eLOX-3eLOX3
Chromosome 17
Chromosome location 17p13.1
Summary This gene is a member of the lipoxygenase family, which are catabolized by arachidonic acid-derived compounds. The encoded enzyme is a hydroperoxide isomerase that synthesizes a unique type of epoxy alcohol (8R-hydroxy-11R,12R-epoxyeicosa-5Z,9E,14Z-trieno
SNPs SNP information provided by dbSNP.
17
SNP ID Visualize variation Clinical significance Consequence
rs121434232 C>A,T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs121434233 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
rs121434234 G>T Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs139375856 T>C Pathogenic Splice acceptor variant, downstream transcript variant, genic downstream transcript variant
rs141340759 G>A Pathogenic Coding sequence variant, non coding transcript variant, stop gained
miRNA miRNA information provided by mirtarbase database.
26
miRTarBase ID miRNA Experiments Reference
MIRT778925 hsa-miR-1255a CLIP-seq
MIRT778926 hsa-miR-1255b CLIP-seq
MIRT778927 hsa-miR-2110 CLIP-seq
MIRT778928 hsa-miR-3126-5p CLIP-seq
MIRT778929 hsa-miR-3150a-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
45
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 28514442, 32296183, 33961781
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0006629 Process Lipid metabolic process IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607206 13743 ENSG00000179148
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BYJ1
Protein name Hydroperoxide isomerase ALOXE3 (Epidermis-type lipoxygenase 3) (Epidermal LOX-3) (e-LOX-3) (eLOX-3) (Hydroperoxy dehydratase ALOXE3) (Hydroperoxy icosatetraenoate dehydratase) (EC 4.2.1.152) (Hydroperoxy icosatetraenoate isomerase) (EC 5.4.4.7)
Protein function Non-heme iron-containing lipoxygenase which is atypical in that it displays a prominent hydroperoxide isomerase activity and a reduced lipoxygenases activity (PubMed:12881489, PubMed:17045234, PubMed:20921226, PubMed:20923767). The hydroperoxide
PDB 6VB2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01477 PLAT 4 113 PLAT/LH2 domain Domain
PF00305 Lipoxygenase 211 697 Lipoxygenase Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in skin.
Sequence
Sequence length 711
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arachidonic acid metabolism
Metabolic pathways
  Synthesis of 12-eicosatetraenoic acid derivatives
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
ALOXE3-related disorder Pathogenic rs121434233, rs147149459, rs141340759 RCV003944796
RCV003920029
RCV003398653
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive congenital ichthyosis Pathogenic rs147149459 RCV000615069
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive congenital ichthyosis 2 Pathogenic; Likely pathogenic rs121434233, rs777240858, rs1311967606, rs1296095311, rs765682032, rs1568005543 RCV005357068
RCV005356403
RCV000782398
RCV000782397
RCV000782396
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Autosomal recessive congenital ichthyosis 3 Pathogenic; Likely pathogenic rs2151838171, rs754701941, rs121434232, rs121434233, rs121434234, rs370031870, rs1415942704, rs147149459, rs777240858, rs139375856, rs786205120, rs745480657, rs1355284797, rs1296095311, rs765682032
View all (25 more)
RCV001783428
RCV001785913
RCV000003576
RCV000003577
RCV000003578
View all (35 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital ichthyosiform erythroderma Uncertain significance; Benign ClinVar
Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic otitis media Otitis media HPO_DG
★☆☆☆☆
Found in Text Mining only
Collodion Fetus Congenital Ichthyosis CTD_human_DG 21739938
★☆☆☆☆
Found in Text Mining only
Congenital ichthyosis Congenital Ichthyosis BEFREE 15629692, 16116617, 17608720, 19131948, 23954555, 26298204, 26578203
★☆☆☆☆
Found in Text Mining only
Congenital ichthyosis Congenital Ichthyosis CTD_human_DG 21739938
★☆☆☆☆
Found in Text Mining only
Congenital non-bullous ichthyosiform erythroderma Congenital Nonbullous Ichthyosiform Erythroderma Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Congenital Nonbullous Ichthyosiform Erythroderma Congenital Nonbullous Ichthyosiform Erythroderma ORPHANET_DG 12780701, 19131948, 21668430, 25423909
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Nonbullous Ichthyosiform Erythroderma Congenital Nonbullous Ichthyosiform Erythroderma BEFREE 17608720, 18086569, 19131948, 23954555, 26578203
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Nonbullous Ichthyosiform Erythroderma Congenital Nonbullous Ichthyosiform Erythroderma CTD_human_DG 21739938
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Nonbullous Ichthyosiform Erythroderma Congenital Nonbullous Ichthyosiform Erythroderma HPO_DG
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)