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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 56
  • 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
  • GC17M008332
  • GC17M008401
  • GC17M008433

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 Metabolism and Arachidonic acid metabolism. Gene Ontology (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

Additional gene information for ALOX12B Gene

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

Genomics for ALOX12B Gene

GeneHancer (GH) Regulatory Elements for ALOX12B Gene

Promoters and enhancers for ALOX12B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I008088 Promoter 0.9 EPDnew 550.8 0.0 -33 0.1 PKNOX1 KLF1 ZNF687 MAZ KLF17 KLF4 GATA3 NFYB RCOR1 CHD2 ALOX12B MIR4314
GH17I008087 Enhancer 0.6 ENCODE 550.8 -0.2 -215 0.2 PKNOX1 KLF1 ZNF687 MAZ KLF17 KLF4 GATA3 NFYB RCOR1 CHD2 ALOX12B MIR4314
GH17I008109 Enhancer 1 Ensembl ENCODE 13.7 -22.2 -22201 1.5 HDGF ATF1 RB1 NFIB SIN3A ZNF2 RAD21 ARID2 ZNF143 ATF7 ALOXE3 ALOX12B LOC107985075 ALOX15B SNORD118 TMEM107 TRAPPC1 CNTROB KCNAB3 PFAS
GH17I008055 Enhancer 1.2 Ensembl ENCODE 11.4 +30.8 30792 2.6 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1 YY1 ARID2 ENSG00000263427 LOC107985075 NAA38 GUCY2D ALOX12B KCNAB3 CNTROB TRAPPC1 SCARNA21 CHD3
GH17I008062 Enhancer 0.9 ENCODE 13.2 +24.9 24868 0.8 PKNOX1 ATF1 ZNF133 FEZF1 ZNF2 TCF12 GLIS2 ATF7 YY2 NCOA1 ALOXE3P1 ALOX12B CYB5D1 ALOX15B GUCY2D SNORD118 TMEM107 HES7 ENSG00000263427
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ALOX12B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ALOX12B gene promoter:

Genomic Locations for ALOX12B Gene

Genomic Locations for ALOX12B Gene
chr17:8,072,636-8,087,703
(GRCh38/hg38)
Size:
15,068 bases
Orientation:
Minus strand
chr17:7,975,954-7,991,021
(GRCh37/hg19)

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

O75342:
  • DRRPLGH
  • TCSAKHAAV

Post-translational modifications for ALOX12B Gene

No Post-translational modifications

Other Protein References for ALOX12B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALOX12B Gene

Gene Families for ALOX12B Gene

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

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 :
  • Belongs to the lipoxygenase family.
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 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:

Clone Products

No data available for Phenotypes From GWAS Catalog , 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
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 ALOX12B gene
Compartment Confidence
cytosol 5
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

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,IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006665 sphingolipid metabolic process IDA,IEA 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 33

(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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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.

Evidence on tissue expression from TISSUES for ALOX12B Gene

  • Skin(4.6)
  • Nervous system(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALOX12B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • outer ear
Pelvis:
  • penis
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • skin
  • spinal cord
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with ALOX12B: view

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 33 34
  • 99.62 (n)
cow
(Bos Taurus)
Mammalia ALOX12B 33 34
  • 88.32 (n)
dog
(Canis familiaris)
Mammalia ALOX12B 33 34
  • 88.13 (n)
rat
(Rattus norvegicus)
Mammalia Alox12b 33
  • 84.59 (n)
mouse
(Mus musculus)
Mammalia Alox12b 33 16 34
  • 84.21 (n)
oppossum
(Monodelphis domestica)
Mammalia ALOX12B 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALOX12B 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 51 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 47 (a)
ManyToMany
-- 34
  • 47 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ALOXE3 34
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 36 (a)
ManyToMany
-- 34
  • 30 (a)
ManyToMany
CSA.6148 34
  • 29 (a)
ManyToMany
-- 34
  • 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 Variation AA Info Type
rs1035931854 uncertain-significance, Congenital ichthyosiform erythroderma 8,073,327(-) G/A intron_variant
rs1039399607 congenital, autosomal recessive 2 (ARCI2) [MIM:242100] 8,077,017(-) G/T coding_sequence_variant, missense_variant
rs112835279 uncertain-significance, Congenital ichthyosiform erythroderma 8,077,086(-) G/A coding_sequence_variant, synonymous_variant
rs116399915 uncertain-significance, Congenital ichthyosiform erythroderma 8,086,044(-) G/A coding_sequence_variant, synonymous_variant
rs116492351 likely-benign, Congenital ichthyosiform erythroderma 8,087,600(-) C/A 5_prime_UTR_variant

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)

Additional Variant Information 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

(7) MalaCards diseases for ALOX12B Gene - From: HGMD, OMIM, ClinVar, GTR, 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:15629692, 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.

Additional Disease Information for ALOX12B

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 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 WE … Brash AR (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22 58
  2. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PMID: 19890349) Vahlquist A … Fischer J (The Journal of investigative dermatology 2010) 3 4 22 58
  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 KM … Hennies HC (The Journal of investigative dermatology 2009) 3 4 44 58
  4. Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. (PMID: 15629692) Yu Z … Brash AR (Biochimica et biophysica acta 2005) 3 4 22 58
  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 (Human molecular genetics 2002) 3 4 22 58

Products for ALOX12B Gene

Sources for ALOX12B Gene

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