GenTIGS

Arachidonate 12-lipoxygenase, 12R type (ALOX12B) Associated conditions: 1. Lamellar ichthyosis

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001139.3	NP_001130.1	NC_000017.11	(8072635..8087715, complement)	Reference GRCh38.p14 Primary Assembly	O75342

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 155 reference articles

Variant Information Arachidonate 12-lipoxygenase, 12R type (ALOX12B) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Arachidonate 12-lipoxygenase, 12R type (ALOX12B)

ClinVar variants:Revealing mutagenic patterns

GO Term of Arachidonate 12-lipoxygenase, 12R type (ALOX12B)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	arachidonate 12(S)-lipoxygenase activity	Function	21873635
2	Homo sapiens	IMP	enables	arachidonate 12(S)-lipoxygenase activity	Function	15629692
3	Homo sapiens	IEA	enables	iron ion binding	Function	-
4	Homo sapiens	IDA	located_in	cytosol	Component	-
5	Homo sapiens	TAS	located_in	cytosol	Component	-
6	Homo sapiens	ISS	involved_in	protein lipidation	Process	-
7	Homo sapiens	IDA	involved_in	sphingolipid metabolic process	Process	21558561
8	Homo sapiens	IMP	involved_in	positive regulation of gene expression	Process	22441738
9	Homo sapiens	IDA	enables	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	Function	21558561
10	Homo sapiens	IEA	enables	lyase activity	Function	-
11	Homo sapiens	IEA	enables	isomerase activity	Function	-
12	Homo sapiens	IBA	involved_in	arachidonic acid metabolic process	Process	21873635
13	Homo sapiens	IMP	involved_in	arachidonic acid metabolic process	Process	15629692
14	Homo sapiens	ISS	involved_in	arachidonic acid metabolic process	Process	-
15	Homo sapiens	IBA	involved_in	lipoxygenase pathway	Process	21873635
16	Homo sapiens	IDA	involved_in	lipoxygenase pathway	Process	21558561
17	Homo sapiens	IMP	involved_in	lipoxygenase pathway	Process	15629692
18	Homo sapiens	IBA	involved_in	lipid oxidation	Process	21873635
19	Homo sapiens	IDA	located_in	intracellular membrane-bounded organelle	Component	-
20	Homo sapiens	IDA	involved_in	positive regulation of MAPK cascade	Process	22441738
21	Homo sapiens	IBA	involved_in	linoleic acid metabolic process	Process	21873635
22	Homo sapiens	ISS	involved_in	linoleic acid metabolic process	Process	-
23	Homo sapiens	ISS	involved_in	ceramide biosynthetic process	Process	-
24	Homo sapiens	IEA	enables	arachidonate 8(R)-lipoxygenase activity	Function	-
25	Homo sapiens	IBA	is_active_in	perinuclear region of cytoplasm	Component	21873635
26	Homo sapiens	IDA	located_in	perinuclear region of cytoplasm	Component	9837935
27	Homo sapiens	IBA	involved_in	hepoxilin biosynthetic process	Process	21873635
28	Homo sapiens	ISS	involved_in	hepoxilin biosynthetic process	Process	-
29	Homo sapiens	ISS	involved_in	establishment of skin barrier	Process	-
30	Homo sapiens	IMP	involved_in	positive regulation of mucus secretion	Process	22441738
31	Homo sapiens	IEA	enables	arachidonate 12(R)-lipoxygenase activity	Function	-
32	Homo sapiens	ISS	enables	linoleate 9S-lipoxygenase activity	Function	-