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ALOX12B Gene

protein-coding   GIFtS: 65
GCID: GC17M007975

Arachidonate 12-Lipoxygenase, 12R Type

  See ALOX12B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Arachidonate 12-Lipoxygenase, 12R Type1 2     ARCI22 5
Epidermis-Type Lipoxygenase 122 3     Arachidonate 12-Lipoxygenase, 12R-Type2
12R-LOX2 3     EC 1.13.11.-3
12R-lipoxygenase2 3     EC 1.13.11.338

External Ids:    HGNC: 4301   Entrez Gene: 2422   Ensembl: ENSG000001794777   OMIM: 6037415   UniProtKB: O753423   

Export aliases for ALOX12B gene to outside databases

Previous GC identifers: GC17P008465 GC17M008847 GC17M007918 GC17M008176 GC17M007916 GC17M007870


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ALOX12B Gene:
This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid.
Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. (provided by RefSeq,
Jul 2008)

GeneCards Summary for ALOX12B Gene:
ALOX12B (arachidonate 12-lipoxygenase, 12R type) is a protein-coding gene. Diseases associated with ALOX12B include alox12b-related autosomal recessive congenital ichthyosis, and ichthyosis, congenital, autosomal recessive 2. GO annotations related to this gene include arachidonate 12-lipoxygenase activity and iron ion binding. An important paralog of this gene is ALOX5.

UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342
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

Gene Wiki entry for ALOX12B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALOX12B gene promoter:
         E2F-3a   E2F-4   E2F-5   p300   E2F-2   HNF-4alpha1   AREB6   E2F-1   E2F   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALOX12B promoter sequence
   Search Chromatin IP Primers for ALOX12B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALOX12B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

ALOX12B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALOX12B gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M007975:  view genomic region     (about GC identifiers)

Start:
7,975,954 bp from pter      End:
7,991,021 bp from pter
Size:
15,068 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342 (See protein sequence)
Recommended Name: Arachidonate 12-lipoxygenase, 12R-type  
Size: 701 amino acids; 80356 Da
Cofactor: Binds 1 iron ion per subunit (By similarity)

Explore the universe of human proteins at neXtProt for ALOX12B: NX_O75342

Explore proteomics data for ALOX12B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for ALOX12B (O75342)
     DRRPLGH  TCSAKHAAV 


    See ALOX12B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001130.1  
    ENSEMBL proteins: 
     ENSP00000315167  
    Reactome Protein details: O75342

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    Cloud-Clone Corp. Proteins for ALOX12B

     
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    antibodies-online proteins for ALOX12B (6 products) 

     
    antibodies-online peptides for ALOX12B

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ALOX: Arachidonate lipoxygenases

    IUPHAR Guide to PHARMACOLOGY protein family classification: 12R-LOX
    Lipoxygenases

    Selected InterPro protein domains (see all 7):
     IPR020833 LipOase_Fe_BS
     IPR013819 LipOase_C
     IPR001024 PLAT/LH2_dom
     IPR008976 Lipase_LipOase
     IPR020834 LipOase_CS

    Graphical View of Domain Structure for InterPro Entry O75342

    ProtoNet protein and cluster: O75342

    3 Blocks protein domains:
    IPB000907 Lipoxygenase
    IPB001024 Lipoxygenase
    IPB001885 Mammalian lipoxygenase signature


    UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342
    Similarity: Belongs to the lipoxygenase family
    Similarity: Contains 1 lipoxygenase domain
    Similarity: Contains 1 PLAT domain


    Find genes that share domains with ALOX12B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LX12B_HUMAN, O75342
    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
    Catalytic activity: Arachidonate + O(2) = (5Z,8Z,10E,14Z)-(12R)-12-hydroperoxyicosa-5,8,10,14-tetraenoate

         Enzyme Numbers (IUBMB): EC 1.13.11.332 EC 1.13.11.-1

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004052arachidonate 12-lipoxygenase activity TAS--
    GO:0005506iron ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0016702oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IDA--
         
    Find genes that share ontologies with ALOX12B           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Alox12b):
     homeostasis/metabolism  integument  mortality/aging  no phenotypic analysis 

    Find genes that share phenotypes with ALOX12B           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ALOX12B: Alox12btm1Lex Alox12btm1.1Krie

       genOway: Develop your customized and physiologically relevant rodent model for ALOX12B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LX12B_HUMAN, O75342: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    nucleus2
    cytoskeleton1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--

    Find genes that share ontologies with ALOX12B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALOX12B About    
    See pathways by source

    SuperPathContained pathways About
    1Arachidonic acid metabolism
    Arachidonic acid metabolism0.41
    HETE and HPETE biosynthesis and metabolism0.33
    Arachidonic acid metabolism0.40
    Synthesis of 12-eicosatetraenoic acid derivatives0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Immune response IL 23 signaling pathway
    IL23-mediated signaling events0.38
    4Circadian entrainment
    Serotonergic synapse0.33
    5Prostaglandin 2 biosynthesis and metabolism FM
    Prostaglandin 2 biosynthesis and metabolism FM


    Find genes that share SuperPaths with ALOX12B           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for ALOX12B
        HETE and HPETE biosynthesis and metabolism
    Prostaglandin 2 biosynthesis and metabolism FM

    1 BioSystems Pathway for ALOX12B
        IL23-mediated signaling events

    1 Reactome Pathway for ALOX12B
        Synthesis of 12-eicosatetraenoic acid derivatives


    3 Kegg Pathways  (Kegg details for ALOX12B):
        Arachidonic acid metabolism
    Metabolic pathways
    Serotonergic synapse

    UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342
    Pathway: Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis
    Pathway: Lipid metabolism; sphingolipid metabolism

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALOX12B
    Interactions:

        Search GeneGlobe Interaction Network for ALOX12B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALOX12B (O753421, 3 ENSP000003151674) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMNAP025453, ENSP000003572834I2D: score=2 STRING: ENSP00000357283
    KRT5P136473, ENSP000002522424I2D: score=2 STRING: ENSP00000252242
    ALOXE3Q9BYJ11EBI-6925925,EBI-6925949
    ALOX12ENSP000002515354STRING: ENSP00000251535
    ALOX15ENSP000002937614STRING: ENSP00000293761
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006497protein lipidation ISS--
    GO:0006665sphingolipid metabolic process IDA--
    GO:0010628positive regulation of gene expression IMP--
    GO:0019369arachidonic acid metabolic process TAS--
    GO:0019372lipoxygenase pathway TAS--

    Find genes that share ontologies with ALOX12B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALOX12B (LX12B)

    3 HMDB Compounds for ALOX12B    About this table
    CompoundSynonyms CAS #PubMed Ids
    12(R)-HPETE12R-HpETE (see all 5)126873-49-2--
    Arachidonic acid5,8,11,14-Eicosatetraenoic acid (see all 16)506-32-1--
    IronArmco iron (see all 19)7439-89-6--

    3 Novoseek inferred chemical compound relationships for ALOX12B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    12(r)-hpete 97.6 3 15629692 (1), 11368351 (1), 18086569 (1)
    arachidonic acid 50.6 1 17436029 (1)
    h2o2 23.5 3 15629692 (2), 18086569 (1)



    Find genes that share compounds with ALOX12B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALOX12B gene: 
    NM_001139.2  

    Unigene Cluster for ALOX12B:

    Arachidonate 12-lipoxygenase, 12R type
    Hs.136574  [show with all ESTs]
    Unigene Representative Sequence: NM_001139
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000319144(uc002gjy.1) ENST00000577351 ENST00000583276 ENST00000584116

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    Additional mRNA sequence: 

    AF038461.1 AF059250.1 BC041058.1 

    6 DOTS entries:

    DT.91785069  DT.97792515  DT.97826992  DT.100695991  DT.102821098  DT.97791482 

    15 AceView cDNA sequences:

    BC041058 AF038461 BX348205 BX095379 AF059250 NM_001139 BX331920 BG436629 
    BG698713 BI667266 BE715737 BM727907 AA649213 BG946103 BM563254 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ALOX12B    About this scheme

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


    ECgene alternative splicing isoforms for ALOX12B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALOX12B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACACGTTGC
    ALOX12B Expression
    About this image


    ALOX12B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Pharynx
     
     Epidermis (Integumentary System)
     
     Tonsil (Hematopoietic System)
    ALOX12B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALOX12B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.136574

    UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342
    Tissue specificity: Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in
    psoriatic tissue

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ALOX12B gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Alox12b1 , 5 arachidonate 12-lipoxygenase, 12R type1, 5 84.21(n)1
    86.02(a)1
      11 (42.38 cM)5
    116861  NM_009659.21  NP_033789.11 
     691569895 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    41(a)
    1 → many
    JH376180.1(21395-23148)
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 6)
    Uncharacterized protein
    (see all 6)
    51(a)
    51(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    GL343400.1(726949-745560)
    GL343400.1(684955-695029)
    zebrafish
    (Danio rerio)
    Actinopterygii ALOXE36
    arachidonate lipoxygenase 3
    38(a)
    1 → many
    21(29958222-29989099) ENSDARG00000016789


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALOX12B gene
    ALOX52  ALOX15B2  ALOXE32  ALOX152  ALOX122  
    5 SIMAP similar genes for ALOX12B using alignment to 1 protein entry:     LX12B_HUMAN:
    ALOXE3    ALOX15B    ALOX5    ALOX12    ALOX15

    Find genes that share paralogs with ALOX12B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for ALOX12B (see all 563)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0695544
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695542 G D mis40--------
    VAR_0151744
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0151742 H Q mis40--------
    VAR_0695534
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695532 N K mis40--------
    VAR_0695604
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695602 R L mis40--------
    VAR_0695564
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695562 Y C mis40--------
    VAR_0695454
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695452 L P mis40--------
    VAR_0695574
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695572 V M mis40--------
    VAR_0695504
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695502 Y C mis40--------
    VAR_0695474
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695472 R W mis40--------
    VAR_0695484
    Ichthyosis, congenital, autosomal recessive 2 (ARCI2)4--see VAR_0695482 P S mis40--------

    HapMap Linkage Disequilibrium report for ALOX12B (7975954 - 7991021 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for ALOX12B:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv907655CNV Loss21882294
    nsv833352CNV Loss17160897
    nsv907656CNV Loss21882294

    Human Gene Mutation Database (HGMD): ALOX12B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ALOX12B
    DNA2.0 Custom Variant and Variant Library Synthesis for ALOX12B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603741   
    OMIM disorders: 242100  
    UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 6 diseases for ALOX12B:    
    About MalaCards
    alox12b-related autosomal recessive congenital ichthyosis    ichthyosis, congenital, autosomal recessive 2    ichthyosis, congenital, autosomal recessive 1    fibrous meningioma
    autosomal recessive congenital ichthyosis    meningioma

    1 disease from the University of Copenhagen DISEASES database for ALOX12B:
    Congenital ichthyosiform erythroderma

    Find genes that share disorders with ALOX12B           About GenesLikeMe

    5 Novoseek inferred disease relationships for ALOX12B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ichthyosiform erythroderma nonbullous congenital 95.3 2 16792775 (1), 18347291 (1)
    congenital ichthyosis 92.3 8 17139268 (2), 18086569 (1), 19122646 (1)
    ichthyosiform erythroderma congenital 89.1 4 11773004 (2), 15629692 (1), 17139268 (1)
    ichthyosis 88.8 7 18086569 (1), 19890349 (1), 19122646 (1), 17436029 (1) (see all 5)
    skin diseases 36.9 1 15086555 (1)

    GeneTests: ALOX12B
    GeneReviews: ALOX12B
    Genetic Association Database (GAD): ALOX12B
    Human Genome Epidemiology (HuGE) Navigator: ALOX12B (9 documents)

    Export disorders for ALOX12B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALOX12B gene, integrated from 10 sources (see all 43):
    (articles sorted by number of sources associating them with ALOX12B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A 12R-lipoxygenase in human skin: mechanistic evidence, molecular cloning, and expression. (PubMed id 9618483)1, 2, 3, 9 Boeglin W.E.... Brash A.R. (Proc. Natl. Acad. Sci. U.S.A. 1998)
    2. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. (PubMed id 19131948)1, 2, 4 Eckl K.M.... Hennies H.C. (J. Invest. Dermatol. 2009)
    3. A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression. (PubMed id 11350124)1, 2, 9 Krieg P.... Fuerstenberger G. (Genomics 2001)
    4. Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3. (PubMed id 15629692)1, 2, 9 Yu Z....Brash A.R. (Biochim. Biophys. Acta 2005)
    5. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. (PubMed id 11773004)1, 2, 9 Jobard F.... Fischer J. (Hum. Mol. Genet. 2002)
    6. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PubMed id 19890349)1, 2, 9 Vahlquist A.... Fischer J. (J. Invest. Dermatol. 2010)
    7. A role for 12R-lipoxygenase in MUC5AC expression by respiratory epithelial cells. (PubMed id 22441738)1, 2 Garcia-Verdugo I....Touqui L. (Eur. Respir. J. 2012)
    8. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    9. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    10. Gene variants associated with ischemic stroke: the cardiovascular health study. (PubMed id 19023099)1, 4 Luke M.M....Psaty B.M. ( a journal of cerebral circulation 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 242 HGNC: 430 AceView: ALOX12B Ensembl:ENSG00000179477 euGenes: HUgn242
    ECgene: ALOX12B Kegg: 242 H-InvDB: ALOX12B

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALOX12B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALOX12B[genesymbol]
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/153/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALOX12B gene:
    Search GeneIP for patents involving ALOX12B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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