ALOX12B (arachidonate 12-lipoxygenase, 12R type)

2010-02-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
12R-LOX,ARCI2

Other Information

Locus ID:

NCBI: 242
MIM: 603741
HGNC: 430
Ensembl: ENSG00000179477

Variants:

dbSNP: 242
ClinVar: 242
TCGA: ENSG00000179477
COSMIC: ALOX12B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179477ENST00000647874O75342
ENSG00000179477ENST00000649809A0A3B3IRK2

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Arachidonic acid metabolismKEGGko00590
Arachidonic acid metabolismKEGGhsa00590
Metabolic pathwaysKEGGhsa01100
Serotonergic synapseKEGGhsa04726
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Arachidonic acid metabolismREACTOMER-HSA-2142753
Synthesis of 12-eicosatetraenoic acid derivativesREACTOMER-HSA-2142712

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
179751192008Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.65
117730042002Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.62
240219772014The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier.28
239545552014The role of lipoxygenases in epidermis.27
191319482009Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.24
191319482009Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.24
193721412009Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women.24
194235402009Common variation in genes related to innate immunity and risk of adult glioma.19
174360292007Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha.18
190230992009Gene variants associated with ischemic stroke: the cardiovascular health study.16

Citation

Dessen P

ALOX12B (arachidonate 12-lipoxygenase, 12R type)

Atlas Genet Cytogenet Oncol Haematol. 2010-02-01

Online version: http://atlasgeneticsoncology.org/gene/51324/alox12b