ALOX12 Gene (Protein Coding)

Arachidonate 12-Lipoxygenase, 12S Type

GC17P006995
GIFtS:
45
This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets ... See more...

Aliases for ALOX12 Gene

Aliases for ALOX12 Gene

  • Arachidonate 12-Lipoxygenase, 12S Type 2 3 5
  • Arachidonate 12-Lipoxygenase, 12S-Type 2 3 4
  • Platelet-Type Lipoxygenase 12 3 4
  • Lipoxin Synthase 12-LO 3 4
  • 12S-Lipoxygenase 3 4
  • Platelet 12-LOX 2 3
  • 12S-LOX 3 4
  • LOG12 3 4
  • Platelet-Type 12-Lipoxygenase 3
  • Arachidonate 12-Lipoxygenase 2
  • EC 1.13.11.31 4
  • EC 1.13.11 54
  • EC 3.3.2.- 4
  • 12-LOX 3
  • 12LO 4

External Ids for ALOX12 Gene

Previous GeneCards Identifiers for ALOX12 Gene

  • GC17P007287
  • GC17P007630
  • GC17P006741
  • GC17P007099
  • GC17P006840
  • GC17P006899
  • GC17P006998

Summaries for ALOX12 Gene

Entrez Gene Summary for ALOX12 Gene

  • This gene encodes a member of the lipoxygenase family of proteins. The encoded enzyme acts on different polyunsaturated fatty acid substrates to generate bioactive lipid mediators including eicosanoids and lipoxins. The encoded enzyme and its reaction products have been shown to regulate platelet function. Elevated expression of this gene has been observed in pancreatic islets derived from human diabetes patients. Allelic variants in this gene may be associated with susceptibility to toxoplasmosis. Multiple pseudogenes of this gene have been identified in the human genome. [provided by RefSeq, Aug 2017]

GeneCards Summary for ALOX12 Gene

ALOX12 (Arachidonate 12-Lipoxygenase, 12S Type) is a Protein Coding gene. Diseases associated with ALOX12 include Inflammatory Bowel Disease 12 and Colorectal Cancer 12. Among its related pathways are Arachidonic acid metabolism and Development Endothelin-1/EDNRA signaling. Gene Ontology (GO) annotations related to this gene include iron ion binding and arachidonate 12-lipoxygenase activity. An important paralog of this gene is ALOX15.

UniProtKB/Swiss-Prot Summary for ALOX12 Gene

  • Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE but can also metabolize linoleic acid. Has a dual activity since it also converts leukotriene A4/LTA4 into both the bioactive lipoxin A4/LXA4 and lipoxin B4/LXB4. Through the production of specific bioactive lipids like (12S)-HPETE it regulates different biological processes including platelet activation. It also probably positively regulates angiogenesis through regulation of the expression of the vascular endothelial growth factor. Plays a role in apoptotic process, promoting the survival of vascular smooth muscle cells for instance. May also play a role in the control of cell migration and proliferation.

Tocris Summary for ALOX12 Gene

  • Lipoxygenases (LOXs) are a family of non-heme iron dioxygenases that are involved in the production and metabolism of fatty acid hydroperoxidases. There are six lipoxygenase isozymes; 5-LOX, 12R-LOX, 12S-LOX, 15-LOX-1, 15-LOX-2 and E-LOX.

Gene Wiki entry for ALOX12 Gene

Additional gene information for ALOX12 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ALOX12 Gene

Genomics for ALOX12 Gene

GeneHancer (GH) Regulatory Elements for ALOX12 Gene

Promoters and enhancers for ALOX12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALOX12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALOX12 gene promoter:
  • AML1a
  • FOXL1
  • Lmo2
  • LyF-1
  • Nkx2-5
  • YY1
  • Zic1
  • ZIC2

Genomic Locations for ALOX12 Gene

Genomic Locations for ALOX12 Gene
chr17:6,994,196-7,010,754
(GRCh38/hg38)
Size:
16,559 bases
Orientation:
Plus strand
chr17:6,899,384-6,914,055
(GRCh37/hg19)
Size:
14,672 bases
Orientation:
Plus strand

Genomic View for ALOX12 Gene

Genes around ALOX12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALOX12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALOX12 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ALOX12 Gene

Proteins for ALOX12 Gene

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  • Protein details for ALOX12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P18054-LOX12_HUMAN
    Recommended name:
    Arachidonate 12-lipoxygenase, 12S-type
    Protein Accession:
    P18054
    Secondary Accessions:
    • O95569
    • Q6ISF8
    • Q9UQM4

    Protein attributes for ALOX12 Gene

    Size:
    663 amino acids
    Molecular mass:
    75694 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ALOX12 Gene

neXtProt entry for ALOX12 Gene

Protein Expression for ALOX12 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ALOX12 Gene

P18054:
  • CPPDDLA
  • GMEELQAQLEKEL
  • WVPNAPCTMR

Post-translational modifications for ALOX12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALOX12 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALOX12 Gene

Gene Families for ALOX12 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ALOX12 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALOX12 Gene

GenScript: Design optimal peptide antigens:
  • Platelet-type lipoxygenase 12 (LOX12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P18054

UniProtKB/Swiss-Prot:

LOX12_HUMAN :
  • Belongs to the lipoxygenase family.
Family:
  • Belongs to the lipoxygenase family.
genes like me logo Genes that share domains with ALOX12: view

Function for ALOX12 Gene

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Molecular function for ALOX12 Gene

UniProtKB/Swiss-Prot Function:
Non-heme iron-containing dioxygenase that catalyzes the stereo-specific peroxidation of free and esterified polyunsaturated fatty acids generating a spectrum of bioactive lipid mediators. Mainly converts arachidonic acid to (12S)-hydroperoxyeicosatetraenoic acid/(12S)-HPETE but can also metabolize linoleic acid. Has a dual activity since it also converts leukotriene A4/LTA4 into both the bioactive lipoxin A4/LXA4 and lipoxin B4/LXB4. Through the production of specific bioactive lipids like (12S)-HPETE it regulates different biological processes including platelet activation. It also probably positively regulates angiogenesis through regulation of the expression of the vascular endothelial growth factor. Plays a role in apoptotic process, promoting the survival of vascular smooth muscle cells for instance. May also play a role in the control of cell migration and proliferation.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (12S)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:10428, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:57444; EC=1.13.11.31;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H2O + 2 leukotriene A4 + O2 = 2 lipoxin A4; Xref=Rhea:RHEA:48584, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:57463, ChEBI:CHEBI:67026;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H2O + 2 leukotriene A4 + O2 = 2 lipoxin B4; Xref=Rhea:RHEA:48588, ChEBI:CHEBI:15377, ChEBI:CHEBI:15379, ChEBI:CHEBI:57463, ChEBI:CHEBI:67031;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by EGF.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=8 uM for arachidonate (at pH 7.0 and 37 degrees Celsius) {ECO:0000269 PubMed:1851637}; KM=10 uM for arachidonate (at pH 8.0 and 25 degrees Celsius) {ECO:0000269 PubMed:8319693}; KM=6.2 uM for arachidonate (at pH 7.4) {ECO:0000269 PubMed:8250832}; KM=9 uM for linoleate (at pH 8.0 and 25 degrees Celsius) {ECO:0000269 PubMed:8319693}; KM=7.9 uM for leukotriene A4 (at pH 7.4) {ECO:0000269 PubMed:8250832}; KM=3 uM for eicosa-5,8,11,14,17-pentaenoate (at pH 7.0 and 37 degrees Celsius) {ECO:0000269 PubMed:1851637}; KM=35 uM for eicosa-8,11,14-trienoate (at pH 7.0 and 37 degrees Celsius) {ECO:0000269 PubMed:1851637}; KM=14.3 uM for 5,6-epoxy-8,11,14-eicosatrienoate (at pH 7.4) {ECO:0000269 PubMed:8250832}; Vmax=3 umol/min/mg enzyme with arachidonate as substrate (at pH 8.0 and 25 degrees Celsius) {ECO:0000269 PubMed:8319693}; Vmax=1.057 umol/min/mg enzyme with arachidonate as substrate (at pH 7.4) {ECO:0000269 PubMed:8250832}; Vmax=0.0375 umol/min/mg enzyme with linoleate as substrate (at pH 8.0 and 25 degrees Celsius) {ECO:0000269 PubMed:8319693}; Vmax=0.025 umol/min/mg enzyme with leukotriene A4 as substrate (at pH 7.4) {ECO:0000269 PubMed:8250832}; Vmax=0.985 umol/min/mg enzyme with 5,6-epoxy-8,11,14- eicosatrienoate as substrate (at pH 7.4) {ECO:0000269 PubMed:8250832}; pH dependence: Optimum pH is 7.5-8.0 (for arachidonate 12-lipoxygenase activity). {ECO:0000269 PubMed:8250832, ECO:0000269 PubMed:8319693};
UniProtKB/Swiss-Prot Induction:
Down-regulated upon starvation, by UV-irradiation and 15-lipoxygenase metabolites.
GENATLAS Biochemistry:
arachidonate-12-lipoxygenase,75kDa,lipid peroxidating enzyme implicated in the pathogenesis of inflammatory disorders as well as membrane remodeling,carcinogenesis,and atheroma formation,expressed in platelets erythroleukemia cells and umbilical vein endothelial cells,also in B cells and adult skin

Enzyme Numbers (IUBMB) for ALOX12 Gene

Phenotypes From GWAS Catalog for ALOX12 Gene

Gene Ontology (GO) - Molecular Function for ALOX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004052 arachidonate 12-lipoxygenase activity IDA 1851637
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 10727209
GO:0016165 linoleate 13S-lipoxygenase activity IDA 8319693
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with ALOX12: view
genes like me logo Genes that share phenotypes with ALOX12: view

Animal Models for ALOX12 Gene

MGI Knock Outs for ALOX12:

Animal Model Products

CRISPR Products

miRNA for ALOX12 Gene

miRTarBase miRNAs that target ALOX12

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ALOX12 Gene

Localization for ALOX12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALOX12 Gene

Cytoplasm, cytosol. Membrane. Note=Membrane association is stimulated by EGF.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALOX12 gene
Compartment Confidence
plasma membrane 5
cytosol 5
mitochondrion 3
nucleus 2
extracellular 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ALOX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 8319693
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA,IDA 8912711
GO:0042383 sarcolemma IDA,IEA 15107407
GO:0070062 extracellular exosome HDA 19056867
genes like me logo Genes that share ontologies with ALOX12: view

Pathways & Interactions for ALOX12 Gene

genes like me logo Genes that share pathways with ALOX12: view

UniProtKB/Swiss-Prot P18054-LOX12_HUMAN

  • Pathway: Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.

Gene Ontology (GO) - Biological Process for ALOX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0007568 aging IEA --
GO:0010628 positive regulation of gene expression IEA --
GO:0010656 negative regulation of muscle cell apoptotic process IMP 23578768
genes like me logo Genes that share ontologies with ALOX12: view

No data available for SIGNOR curated interactions for ALOX12 Gene

Drugs & Compounds for ALOX12 Gene

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(37) Drugs for ALOX12 Gene - From: PharmGKB, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1452
Oxygen Approved, Vet_approved Pharma 0
Celecoxib Approved, Investigational Pharma Inhibition, Inhibitor Selective cyclooxygenase-2 (COX-2) inhibitor 515
arachidonic acid Experimental Pharma Activator, Agonist, Inhibitor, Activation, Potentiation 38
Baicalein Pharma Lipoxygenases inhibitor, 5- and 12-Lipoxygenase inhibitor 1

(49) Additional Compounds for ALOX12 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
12(S)-HPETE
  • (5Z,8Z,10E,12S,14Z)-12-Hydroperoxyicosa-5,8,10,14-tetraenoic acid
  • (5Z,8Z,10E,14Z)-(12S)-12-Hydroperoxyeicosa-5,8,10,14-tetraenoate
  • (5Z,8Z,10E,14Z)-(12S)-12-Hydroperoxyicosa-5,8,10,14-tetraenoate
  • (5Z,8Z,10E,14Z)-(12S)-12-Hydroperoxyicosa-5,8,10,14-tetraenoic acid
  • 12-HpETE
 71774-10-2

(5) Tocris Compounds for ALOX12 Gene

Compound Action Cas Number
2-TEDC 5-, 12-, 15-Lipoxygenase inhibitor 132465-10-2
Baicalein 5- and 12-Lipoxygenase inhibitor 491-67-8
BAY-X 1005 Orally active 5-lipoxygenase activating protein (FLAP) inhibitor 128253-31-6
BW-B 70C 5-Lipoxygenase inhibitor 134470-38-5
MK 886 Inhibitor of 5-lipoxygenase-activating protein (FLAP) 118414-82-7

(2) ApexBio Compounds for ALOX12 Gene

Compound Action Cas Number
Baicalein Lipoxygenases inhibitor 491-67-8
ML355 12-LOX inhibitor 1532593-30-8
genes like me logo Genes that share compounds with ALOX12: view

Transcripts for ALOX12 Gene

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  1. CRISPR
  2. miRNA
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  4. Clone

mRNA/cDNA for ALOX12 Gene

(1) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(16) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALOX12 Gene

No ASD Table

Relevant External Links for ALOX12 Gene

GeneLoc Exon Structure for
ALOX12
ECgene alternative splicing isoforms for
ALOX12

Expression for ALOX12 Gene

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  1. Primer
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALOX12 Gene

mRNA expression in normal human tissues for ALOX12 Gene
mRNA expression by GTEx for ALOX12 GenemRNA expression by BioGPS for ALOX12 Gene

mRNA differential expression in normal tissues according to GTEx for ALOX12 Gene

This gene is overexpressed in Vagina (x20.5), Esophagus - Mucosa (x9.5), and Cervix - Ectocervix (x7.1).

Protein differential expression in normal tissues from HIPED for ALOX12 Gene

This gene is overexpressed in Cervix (24.9), Peripheral blood mononuclear cells (19.1), and Platelet (17.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ALOX12 Gene



NURSA nuclear receptor signaling pathways regulating expression of ALOX12 Gene:

ALOX12

SOURCE GeneReport for Unigene cluster for ALOX12 Gene:

Hs.654431

mRNA Expression by UniProt/SwissProt for ALOX12 Gene:

P18054-LOX12_HUMAN
Tissue specificity: Expressed in vascular smooth muscle cells.

Evidence on tissue expression from TISSUES for ALOX12 Gene

  • Skin(4.4)
  • Blood(3.1)
  • Muscle(2.1)
genes like me logo Genes that share expression patterns with ALOX12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for ALOX12 Gene

Orthologs for ALOX12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALOX12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ALOX12 33 32
  • 99.24 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia ALOX12 33 32
  • 88.89 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ALOX12 33 32
  • 87.53 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 33
  • 87 (a)
 OneToMany
mouse
(Mus musculus)
 Mammalia Alox12 17 33 32
  • 85.42 (n)
rat
(Rattus norvegicus)
 Mammalia Alox12 32
  • 84.97 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 67 (a)
 OneToMany
-- 33
  • 64 (a)
 OneToMany
-- 33
  • 58 (a)
 OneToMany
-- 33
  • 32 (a)
 OneToMany
zebrafish
(Danio rerio)
 Actinopterygii alox12 33 32
  • 53.39 (n)
 OneToMany
wufb72a11 32
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 32 (a)
 ManyToMany
-- 33
  • 29 (a)
 ManyToMany
CSA.6148 33
  • 29 (a)
 ManyToMany
-- 33
  • 28 (a)
 ManyToMany
Species where no ortholog for ALOX12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALOX12 Gene

ENSEMBL:
Gene Tree for ALOX12 (if available)
TreeFam:
Gene Tree for ALOX12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ALOX12: view image

Paralogs for ALOX12 Gene

Paralogs for ALOX12 Gene

(6) SIMAP similar genes for ALOX12 Gene using alignment to 2 proteins:

  • LOX12_HUMAN
  • K7ENN9_HUMAN

Pseudogenes.org Pseudogenes for ALOX12 Gene

genes like me logo Genes that share paralogs with ALOX12: view

Variants for ALOX12 Gene

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Sequence variations from dbSNP and Humsavar for ALOX12 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1000072006 -- 7,003,661(+) C/T intron_variant
rs1000135530 -- 7,002,434(+) C/T intron_variant
rs1000153685 -- 6,995,809(+) C/A coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant, upstream_transcript_variant
rs1000226884 -- 7,006,678(+) T/C intron_variant
rs1000538858 -- 6,999,248(+) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ALOX12 Gene

Variant ID Type Subtype PubMed ID
esv1008363 CNV loss 20482838
esv2422288 CNV deletion 17116639
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781

Variation tolerance for ALOX12 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.21; 84.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ALOX12 Gene

Human Gene Mutation Database (HGMD)
ALOX12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALOX12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALOX12 Gene

Disorders for ALOX12 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ALOX12 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
inflammatory bowel disease 12
  • ibd12
colorectal cancer 12
  • colorectal cancer, susceptibility to, 12
toxoplasmosis
  • disseminated toxoplasmosis
prostate cancer
  • prostate cancer, somatic
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LOX12_HUMAN
  • Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the esophagus. The most common types are esophageal squamous cell carcinoma and adenocarcinoma. Cancer of the esophagus remains a devastating disease because it is usually not detected until it has progressed to an advanced incurable stage. {ECO:0000269 PubMed:17460548}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Gln at position 261 may confer interindividual susceptibility to esophageal cancer (PubMed:17460548). {ECO:0000269 PubMed:17460548}.
  • Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:17151091}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry. Gln at position 261 may confer interindividual susceptibility to colorectal cancer (PubMed:17460548). {ECO:0000269 PubMed:17460548}.

Additional Disease Information for ALOX12

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ALOX12: view

No data available for Genatlas for ALOX12 Gene

Publications for ALOX12 Gene

  1. Platelet 12-lipoxygenase Arg261Gln polymorphism: functional characterization and association with risk of esophageal squamous cell carcinoma in combination with COX-2 polymorphisms. (PMID: 17460548) Guo Y … Lin D (Pharmacogenetics and genomics 2007) 3 4 23 43 56
  2. Variation in eicosanoid genes, non-fatal myocardial infarction and ischemic stroke. (PMID: 19046748) Lemaitre RN … Psaty BM (Atherosclerosis 2009) 3 23 43 56
  3. Association of arachidonate 12-lipoxygenase genotype variation and glycemic control with albuminuria in type 2 diabetes. (PMID: 18640486) Liu Y … Rich SS (American journal of kidney diseases : the official journal of the National Kidney Foundation 2008) 3 23 43 56
  4. Polymorphisms in ALOX12, but not ALOX15, are significantly associated with BMD in postmenopausal women. (PMID: 17520163) Mullin BH … Wilson SG (Calcified tissue international 2007) 3 23 43 56
  5. Associations of functional polymorphisms in cyclooxygenase-2 and platelet 12-lipoxygenase with risk of occurrence and advanced disease status of colorectal cancer. (PMID: 17151091) Tan W … Lin D (Carcinogenesis 2007) 3 4 43 56

ExternalLinks

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