Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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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	ITGB4	NO	yeast 2-hybrid	10727209
ALOX12	PLA2G2A	NO	in vivo	15474031
ALOX12	TRIB1	YES	yeast 2-hybrid	10727209
ALOX12	KRT5	NO	in vivo	10727209
ALOX12	LMNA	NO	yeast 2-hybrid	10727209
ALOX12	KRT85	NO	yeast 2-hybrid	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

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Region: chr17:6996065..7010736 View in gBrowse