Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

ADD to My Gene Set

Comment on Gene

View All Comments on Gene

Basic Info

Approved Symbol	ALOX12
Symbol Alias	12S-LOX
Approved Name	arachidonate 12-lipoxygenase
Name Alias	platelet 12-LOX
Location	17p13.1
Position	chr17:6996065-7010736, 1
External Links	HGNC: 429 Entrez Gene: 239 Ensembl: ENSG00000108839 UCSC: uc002gdx.4
No. of Studies	2 (Positive: 1; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 2)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Fridman, C.,2003	Other variant: ALOX12_R261Q	An increased presence of allele A among patients was found, suggesting an association of this polymorphism with the BPD in this Brazilian sample.	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs1126667	No SNP of this gene had significant association with BD in our population.	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 44)

GO terms by PBA (count: 1)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0016020	membrane	cellular component	IDA[8912711]	137

GO terms by database search (count: 43)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043066	negative regulation of apoptotic process	biological process	IMP[15305153]; ISS	46
GO:0019369	arachidonic acid metabolic process	biological process	IDA[1851637]; ISS; TAS	2
GO:0019395	fatty acid oxidation	biological process	IMP[15111312]	2
GO:0030307	positive regulation of cell growth	biological process	IMP[14767568]	8
GO:2001300	lipoxin metabolic process	biological process	TAS	1
GO:0072593	reactive oxygen species metabolic process	biological process	NAS[12858336]	5
GO:0016165	linoleate 13S-lipoxygenase activity	molecular function	IDA[8319693]	1
GO:0045785	positive regulation of cell adhesion	biological process	IMP[14669797]	4
GO:0051121	hepoxilin metabolic process	biological process	TAS	1
GO:0051901	positive regulation of mitochondrial depolarization	biological process	IEA	4
GO:0019372	lipoxygenase pathway	biological process	IDA[8319693]; TAS	1
GO:0047977	hepoxilin-epoxide hydrolase activity	molecular function	ISS	1
GO:0010656	negative regulation of muscle cell apoptotic process	biological process	IMP[23578768]	2
GO:0005515	protein binding	molecular function	IPI[10727209]	563
GO:0043651	linoleic acid metabolic process	biological process	IDA[8319693]; IDA[1851637]	1
GO:0045909	positive regulation of vasodilation	biological process	IEA	14
GO:0071396	cellular response to lipid	biological process	IEA	1
GO:0006928	movement of cell or subcellular component	biological process	IMP[14669797]	7
GO:0010628	positive regulation of gene expression	biological process	IEA	23
GO:0042383	sarcolemma	cellular component	IDA[15107407]	12
GO:1901751	leukotriene A4 metabolic process	biological process	IDA[8250832]; IDA[1851637]	1
GO:0042554	superoxide anion generation	biological process	NAS[15107407]	2
GO:0007568	aging	biological process	IEA	22
GO:0005737	cytoplasm	cellular component	IDA[8319693]	322
GO:0010595	positive regulation of endothelial cell migration	biological process	IEA	4
GO:0051122	hepoxilin biosynthetic process	biological process	ISS	1
GO:0048661	positive regulation of smooth muscle cell proliferation	biological process	IEA	11
GO:0061436	establishment of skin barrier	biological process	ISS	1
GO:0051120	hepoxilin A3 synthase activity	molecular function	TAS	1
GO:0045766	positive regulation of angiogenesis	biological process	IMP[9751607]	11
GO:2001306	lipoxin B4 biosynthetic process	biological process	IDA[8250832]	1
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0043280	positive regulation of cysteine-type endopeptidase activity involved in apoptotic process	biological process	IEA	4
GO:0045603	positive regulation of endothelial cell differentiation	biological process	IEA	2
GO:0044281	small molecule metabolic process	biological process	TAS	117
GO:0008284	positive regulation of cell proliferation	biological process	IMP[15010818]; ISS	44
GO:0030335	positive regulation of cell migration	biological process	IMP[22237009]	16
GO:0005506	iron ion binding	molecular function	IEA	8
GO:0004052	arachidonate 12-lipoxygenase activity	molecular function	IDA[1851637]; TAS	1
GO:2001303	lipoxin A4 biosynthetic process	biological process	IDA[8250832]	1
GO:0005829	cytosol	cellular component	IDA[15107407]; TAS	223
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	molecular function	TAS	1
GO:0090331	negative regulation of platelet aggregation	biological process	ISS	1

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00590	Arachidonic acid metabolism	7

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 6)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
ALOX12	PLA2G2A	NO	in vivo	15474031
ALOX12	KRT85	NO	yeast 2-hybrid	10727209
ALOX12	LMNA	NO	yeast 2-hybrid	10727209
ALOX12	TRIB1	YES	yeast 2-hybrid	10727209
ALOX12	ITGB4	NO	yeast 2-hybrid	10727209
ALOX12	KRT5	NO	in vivo	10727209

Related other genetic factors

Gene related SNPs (count: 8)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs1126667	chr17:6999441 - 6999441(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	1(0/1/0)

LD-proxies (count: 7)

rs_ID	Location	Functional Annotation
rs2292353	chr17:7000218 - 7000218(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant
rs434473	chr17:7001615 - 7001615(1)	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant
rs312466	chr17:6995902 - 6995902(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs10852889	chr17:6997526 - 6997526(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs2070589	chr17:6997043 - 6997043(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant
rs1042356	chr17:6999424 - 6999424(1)	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; synonymous_variant; upstream_gene_variant
rs2070590	chr17:6997125 - 6997125(1)	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant

Gene related CNVs (count: 0)

Gene related other variants (count: 1)

Variant Name	Variant Type	Location in Gene	No. of Studies (Positive/Negative/Trend)
ALOX12_R261Q	point mutation		1 (1/0/0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
17p13.1-17p12	chr17:6500000-16100000	1 (0/1/0)
17p13	chr17:0-10800000	3 (0/3/0)
Chr 17	chr17:0-83257441	3 (0/3/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 2)

Reference	ID in SZGene	Result Category
20626912	992	Positive
17457313	992	Positive

Gene relationship with MDD

View in gBrowse

Region: chr17:6996065..7010736 View in gBrowse