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Aliases for ALOX12B Gene

Aliases for ALOX12B Gene

  • Arachidonate 12-Lipoxygenase, 12R Type 2 3 5
  • Epidermis-Type Lipoxygenase 12 3 4
  • 12R-Lipoxygenase 3 4
  • 12R-LOX 3 4
  • Arachidonate 12-Lipoxygenase, 12R-Type 3
  • EC 1.13.11.33 61
  • EC 1.13.11.- 4
  • ARCI2 3

External Ids for ALOX12B Gene

Previous GeneCards Identifiers for ALOX12B Gene

  • GC17P008465
  • GC17M008847
  • GC17M007918
  • GC17M008176
  • GC17M007916
  • GC17M007975
  • GC17M007870
  • GC17M008074
  • GC17M008100
  • GC17M008103
  • GC17M008119

Summaries for ALOX12B Gene

Entrez Gene Summary for ALOX12B Gene

  • This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]

GeneCards Summary for ALOX12B Gene

ALOX12B (Arachidonate 12-Lipoxygenase, 12R Type) is a Protein Coding gene. Diseases associated with ALOX12B include Ichthyosis, Congenital, Autosomal Recessive 2 and Congenital Ichthyosiform Erythroderma. Among its related pathways are Arachidonic acid metabolism and HETE and HPETE biosynthesis and metabolism. GO annotations related to this gene include iron ion binding and arachidonate 12-lipoxygenase activity. An important paralog of this gene is ALOXE3.

UniProtKB/Swiss-Prot for ALOX12B 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 (12R)-hydroperoxyeicosatetraenoic acid/(12R)-HPETE and minor stereoisomers. In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. May also play a role in the regulation of the expression of airway mucins.

Gene Wiki entry for ALOX12B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALOX12B Gene

Genomics for ALOX12B Gene

Regulatory Elements for ALOX12B Gene

Enhancers for ALOX12B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F008109 0.9 Ensembl ENCODE 13.6 -22.2 -22202 1.5 HDGF ATF1 ZNF2 RAD21 SCRT2 ZNF143 REST ZEB2 RAD51 GLIS1 ALOXE3 ALOX12B LOC107985075 ALOX15B SNORD118 TMEM107 CNTROB TRAPPC1 KCNAB3 PFAS
GH17F008060 0.2 ENCODE 13.2 +27.3 27316 0.2 CTCF ZNF654 YY2 ZHX2 REST RAD21 YY1 GATA3 ZNF143 SMC3 ALOX12B ALOX15B GUCY2D SNORD118 TMEM107 ALOXE3P1 ENSG00000263427
GH17F008062 0.9 Ensembl ENCODE 13.2 +24.8 24803 1.0 HDAC1 PKNOX1 ZNF133 INSM2 KLF17 FEZF1 ZNF2 ZEB1 GLIS2 GATA2 ALOX12B ALOX15B GUCY2D SNORD118 TMEM107 HES7 VAMP2 ALOXE3P1 ENSG00000263427
GH17F008055 1.3 Ensembl ENCODE 11.4 +31.0 30992 3.0 ATF1 MLX ARID4B SIN3A DMAP1 ZNF48 ZNF2 ZNF121 ZNF143 PAF1 ENSG00000263427 LOC107985075 NAA38 GUCY2D ALOX12B KCNAB3 TRAPPC1 CNTROB SCARNA21 CHD3
GH17F008087 0.9 ENCODE 0.8 -0.2 -215 0.2 KLF1 ZNF687 PKNOX1 MAZ KLF17 KLF4 GATA3 NFYB RCOR1 CHD2 ALOX12B MIR4314
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around ALOX12B on UCSC Golden Path with GeneCards custom track

Genomic Location for ALOX12B Gene

Chromosome:
17
Start:
8,072,636 bp from pter
End:
8,087,703 bp from pter
Size:
15,068 bases
Orientation:
Minus strand

Genomic View for ALOX12B Gene

Genes around ALOX12B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALOX12B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALOX12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALOX12B Gene

Proteins for ALOX12B Gene

  • Protein details for ALOX12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75342-LX12B_HUMAN
    Recommended name:
    Arachidonate 12-lipoxygenase, 12R-type
    Protein Accession:
    O75342

    Protein attributes for ALOX12B Gene

    Size:
    701 amino acids
    Molecular mass:
    80356 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

neXtProt entry for ALOX12B Gene

Selected DME Specific Peptides for ALOX12B Gene

Post-translational modifications for ALOX12B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALOX12B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALOX12B Gene

Gene Families for ALOX12B Gene

Suggested Antigen Peptide Sequences for ALOX12B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O75342

UniProtKB/Swiss-Prot:

LX12B_HUMAN :
  • Contains 1 lipoxygenase domain.
  • Belongs to the lipoxygenase family.
Domain:
  • Contains 1 lipoxygenase domain.
  • Contains 1 PLAT domain.
Family:
  • Belongs to the lipoxygenase family.
genes like me logo Genes that share domains with ALOX12B: view

Function for ALOX12B Gene

Molecular function for ALOX12B Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Arachidonate + O(2) = (5Z,8Z,10E,14Z)-(12R)-12-hydroperoxyicosa-5,8,10,14-tetraenoate.
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 (12R)-hydroperoxyeicosatetraenoic acid/(12R)-HPETE and minor stereoisomers. In the skin, acts upstream of ALOXE3 on the lineolate moiety of esterified omega-hydroxyacyl-sphingosine (EOS) ceramides to produce an epoxy-ketone derivative, a crucial step in the conjugation of omega-hydroxyceramide to membrane proteins. Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss. May also play a role in the regulation of the expression of airway mucins.

Enzyme Numbers (IUBMB) for ALOX12B Gene

Gene Ontology (GO) - Molecular Function for ALOX12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004052 arachidonate 12-lipoxygenase activity IEA,TAS --
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IPI 22622417
GO:0016491 oxidoreductase activity IEA --
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA,IDA 21558561
genes like me logo Genes that share ontologies with ALOX12B: view
genes like me logo Genes that share phenotypes with ALOX12B: view

Human Phenotype Ontology for ALOX12B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ALOX12B Gene

MGI Knock Outs for ALOX12B:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALOX12B

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ALOX12B Gene

Localization for ALOX12B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALOX12B Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALOX12B Gene COMPARTMENTS Subcellular localization image for ALOX12B gene
Compartment Confidence
cytosol 5
nucleus 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ALOX12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ALOX12B: view

Pathways & Interactions for ALOX12B Gene

genes like me logo Genes that share pathways with ALOX12B: view

Pathways by source for ALOX12B Gene

UniProtKB/Swiss-Prot O75342-LX12B_HUMAN

  • Pathway: Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.
  • Pathway: Lipid metabolism; sphingolipid metabolism.

Gene Ontology (GO) - Biological Process for ALOX12B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006497 protein lipidation ISS --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IEA,IDA 21558561
GO:0010628 positive regulation of gene expression IMP 22441738
genes like me logo Genes that share ontologies with ALOX12B: view

No data available for SIGNOR curated interactions for ALOX12B Gene

Drugs & Compounds for ALOX12B Gene

(1) Drugs for ALOX12B Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
arachidonic acid Experimental Nutra Activator 28

(3) Additional Compounds for ALOX12B Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
12(R)-HPETE
  • 12R-HpETE
  • 12R-Hydroperoxy-5Z,8Z,10E,14Z-eicosatetraenoate
  • 12R-Hydroperoxy-5Z,8Z,10E,14Z-eicosatetraenoic acid
  • 12R-Hydroperoxyeicosatetraenoate
  • 12R-Hydroperoxyeicosatetraenoic acid
126873-49-2
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
genes like me logo Genes that share compounds with ALOX12B: view

Transcripts for ALOX12B Gene

mRNA/cDNA for ALOX12B Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(15) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ALOX12B Gene

Arachidonate 12-lipoxygenase, 12R type:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALOX12B Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2:
SP3: -

Relevant External Links for ALOX12B Gene

GeneLoc Exon Structure for
ALOX12B
ECgene alternative splicing isoforms for
ALOX12B

Expression for ALOX12B Gene

mRNA expression in normal human tissues for ALOX12B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ALOX12B Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x24.3) and Skin - Not Sun Exposed (Suprapubic) (x18.6).

Protein differential expression in normal tissues from HIPED for ALOX12B Gene

This gene is overexpressed in Cervix (44.8) and Saliva (21.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ALOX12B Gene



Protein tissue co-expression partners for ALOX12B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALOX12B Gene:

ALOX12B

SOURCE GeneReport for Unigene cluster for ALOX12B Gene:

Hs.136574

mRNA Expression by UniProt/SwissProt for ALOX12B Gene:

O75342-LX12B_HUMAN
Tissue specificity: Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue.
genes like me logo Genes that share expression patterns with ALOX12B: view

Primer Products

Orthologs for ALOX12B Gene

This gene was present in the common ancestor of chordates.

Orthologs for ALOX12B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALOX12B 34 35
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia ALOX12B 34 35
  • 88.32 (n)
dog
(Canis familiaris)
Mammalia ALOX12B 34 35
  • 88.13 (n)
rat
(Rattus norvegicus)
Mammalia Alox12b 34
  • 84.59 (n)
mouse
(Mus musculus)
Mammalia Alox12b 34 16 35
  • 84.21 (n)
oppossum
(Monodelphis domestica)
Mammalia ALOX12B 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALOX12B 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 51 (a)
ManyToMany
-- 35
  • 51 (a)
ManyToMany
-- 35
  • 49 (a)
ManyToMany
-- 35
  • 49 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ALOXE3 35
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 36 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
CSA.6148 35
  • 29 (a)
ManyToMany
-- 35
  • 28 (a)
ManyToMany
Species where no ortholog for ALOX12B 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)
  • 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)
  • 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 ALOX12B Gene

ENSEMBL:
Gene Tree for ALOX12B (if available)
TreeFam:
Gene Tree for ALOX12B (if available)

Paralogs for ALOX12B Gene

Paralogs for ALOX12B Gene

(5) SIMAP similar genes for ALOX12B Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ALOX12B: view

Variants for ALOX12B Gene

Sequence variations from dbSNP and Humsavar for ALOX12B Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs137853023 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100], Pathogenic 8,076,742(-) ACAGC(C/T)CCTCA reference, missense
rs137853024 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100], Pathogenic 8,073,678(-) AAGCA(A/C)GCTGC reference, missense
rs199545653 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100], Likely pathogenic 8,075,670(+) CTCCA(C/T)GGCTG reference, missense
rs199766569 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100], Pathogenic 8,075,687(+) TCGGG(C/T)AATAA reference, missense
rs200516538 Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100] 8,080,725(+) CAGGA(A/G)CTTGG nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ALOX12B Gene

Variant ID Type Subtype PubMed ID
nsv833352 CNV loss 17160897
nsv953825 CNV deletion 24416366

Variation tolerance for ALOX12B Gene

Residual Variation Intolerance Score: 18.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.60; 45.04% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALOX12B Gene

Human Gene Mutation Database (HGMD)
ALOX12B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALOX12B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALOX12B Gene

Disorders for ALOX12B Gene

MalaCards: The human disease database

(6) MalaCards diseases for ALOX12B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

LX12B_HUMAN
  • Ichthyosis, congenital, autosomal recessive 2 (ARCI2) [MIM:242100]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. {ECO:0000269 PubMed:11773004, ECO:0000269 PubMed:16116617, ECO:0000269 PubMed:19131948, ECO:0000269 PubMed:19890349}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ALOX12B

Genetic Association Database (GAD)
ALOX12B
Human Genome Epidemiology (HuGE) Navigator
ALOX12B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALOX12B
genes like me logo Genes that share disorders with ALOX12B: view

No data available for Genatlas for ALOX12B Gene

Publications for ALOX12B Gene

  1. A 12R-lipoxygenase in human skin: mechanistic evidence, molecular cloning, and expression. (PMID: 9618483) Boeglin W.E. … Brash A.R. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 22 64
  2. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PMID: 19890349) Vahlquist A. … Fischer J. (J. Invest. Dermatol. 2010) 3 4 22 64
  3. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (PMID: 19131948) Eckl K.M. … Hennies H.C. (J. Invest. Dermatol. 2009) 3 4 46 64
  4. Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. (PMID: 15629692) Yu Z. … Brash A.R. (Biochim. Biophys. Acta 2005) 3 4 22 64
  5. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. (PMID: 11773004) Jobard F. … Fischer J. (Hum. Mol. Genet. 2002) 3 4 22 64

Products for ALOX12B Gene

Sources for ALOX12B Gene

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