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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
  • EC 1.13.11.33 63
  • 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

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 Immune response IL-23 signaling pathway. GO annotations related to this gene include iron ion binding and arachidonate 12-lipoxygenase activity. An important paralog of this gene is ALOX5.

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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for ALOX12B Gene at MOPED

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:0005515 protein binding IEA,IPI 22622417
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

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

No data available for Gene Ontology (GO) - Cellular Components for ALOX12B Gene

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:0006665 sphingolipid metabolic process IDA 21558561
GO:0010628 positive regulation of gene expression IMP 22441738
GO:0019369 arachidonic acid metabolic process IEA,ISS --
GO:0019372 lipoxygenase pathway TAS --
GO:0043651 linoleic acid metabolic process IEA,ISS --
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 27

(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:

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



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

Protein tissue co-expression partners for ALOX12B Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia ALOX12B 35
  • 88.32 (n)
  • 88.41 (a)
ALOX12B 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALOX12B 35
  • 88.13 (n)
  • 88.41 (a)
ALOX12B 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Alox12b 35
  • 84.21 (n)
  • 86.02 (a)
Alox12b 16
Alox12b 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ALOX12B 35
  • 99.62 (n)
  • 99.71 (a)
ALOX12B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alox12b 35
  • 84.59 (n)
  • 86.59 (a)
oppossum
(Monodelphis domestica)
Mammalia ALOX12B 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALOX12B 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 49 (a)
ManyToMany
-- 36
  • 49 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
-- 36
  • 51 (a)
ManyToMany
-- 36
  • 47 (a)
ManyToMany
-- 36
  • 47 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ALOXE3 36
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
ManyToMany
-- 36
  • 36 (a)
ManyToMany
-- 36
  • 28 (a)
ManyToMany
CSA.6148 36
  • 29 (a)
ManyToMany
Species with no ortholog for ALOX12B:
  • 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
VAR_015173 Ichthyosis, congenital, autosomal recessive 2 (ARCI2)
VAR_015174 Ichthyosis, congenital, autosomal recessive 2 (ARCI2)
VAR_050000 -
VAR_069545 Ichthyosis, congenital, autosomal recessive 2 (ARCI2)
VAR_069546 Ichthyosis, congenital, autosomal recessive 2 (ARCI2)

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

Variant ID Type Subtype PubMed ID
nsv833352 CNV Loss 17160897
nsv907655 CNV Loss 21882294
nsv907656 CNV Loss 21882294

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

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 23 67
  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 23
  3. Inhibition of 12-LOX and COX-2 reduces the proliferation of human epidermoid carcinoma cells (A431) by modulating the ERK and PI3K-Akt signalling pathways. (PMID: 19558494) Agarwal S. … Reddanna P. (Exp. Dermatol. 2009) 3 23
  4. Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form. (PMID: 18086569) Nigam S. … Lohse M. (FEBS Lett. 2008) 3 23
  5. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. (PMID: 18347291) Harting M. … Levy M.L. (Arch Dermatol 2008) 3 23

Products for ALOX12B Gene

Sources for ALOX12B Gene

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