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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ALOX12B Gene

protein-coding   GIFtS: 66
GCID: GC17M007975

Arachidonate 12-Lipoxygenase, 12R Type

  See 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)
About This Section

Aliases
Arachidonate 12-Lipoxygenase, 12R Type1 2     ARCI22
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 congenital ichthyosiform erythroderma, and alox12b-related autosomal recessive congenital ichthyosis, and among its related super-pathways are Arachidonic acid metabolism and Metabolic pathways. 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: Converts arachidonic acid to 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE)

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.2  NT_010718.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ALOX12B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O75342

  • 2 DME Specific Peptides for ALOX12B (O75342)
     DRRPLGH  TCSAKHAAV 

    ALOX12B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALOX12B Protein Expression
    REFSEQ proteins: NP_001130.1  
    ENSEMBL proteins: 
     ENSP00000315167  
    Reactome Protein details: O75342
    Human Recombinant Protein Products for ALOX12B: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Protein Over-expression Lysate for ALOX12B
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for ALOX12B
    GenScript Custom Purified and Recombinant Proteins Services for ALOX12B
    Novus Biologicals ALOX12B Proteins
    Novus Biologicals ALOX12B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALOX12B 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    ALOX12B for ontologies           About GeneDecksing



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    Cloud-Clone Corp. ELISAs for ALOX12B 
    Cloud-Clone Corp. CLIAs for ALOX12B


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

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

    5/7 InterPro protein domains (see all 7):
     IPR020833 LipOase_Fe_BS
     IPR013819 LipOase_C
     IPR001024 LipOase_LH2
     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


    ALOX12B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LX12B_HUMAN, O75342
    Function: Converts arachidonic acid to 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE)

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

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    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 ----
    GO:0016165linoleate 13S-lipoxygenase activity ----
         
    ALOX12B for ontologies           About GeneDecksing


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

    ALOX12B for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ALOX12B 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALOX12B 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALOX12B 

    miRNA
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    Inhib. RNA
    Products:
        
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALOX12B


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ALOX12B About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Arachidonic acid metabolism
    Arachidonic acid metabolism0.44
    HETE and HPETE biosynthesis and metabolism0.35
    Arachidonic acid metabolism0.44
    2Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    3Synthesis of 15-eicosatetraenoic acid derivatives
    Synthesis of 12-eicosatetraenoic acid derivatives0.50
    4Synthesis of Prostaglandins (PG) and Thromboxanes (TX)
    Prostaglandin 2 biosynthesis and metabolism FM0.42
    5Development PDGF signaling via STATs and NF-kB
    IL23-mediated signaling events0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for ALOX12B
        Prostaglandin 2 biosynthesis and metabolism FM
    HETE and HPETE biosynthesis and metabolism


    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

    4        Reactome Pathways for ALOX12B
        Metabolism
    Arachidonic acid metabolism
    Synthesis of 12-eicosatetraenoic acid derivatives
    Metabolism of lipids and lipoproteins


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

    UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342
    Pathway: Lipid metabolism; leukotriene D4 biosynthesis


    ALOX12B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ALOX12B

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

    5/44 Interacting proteins for ALOX12B (O753423 ENSP000003151674) via UniProtKB, MINT, STRING, and/or I2D (see all 44)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    LMNAP025453, ENSP000003572834I2D: score=2 STRING: ENSP00000357283
    KRT5P136473, ENSP000002522424I2D: score=2 STRING: ENSP00000252242
    ALOX12ENSP000002515354STRING: ENSP00000251535
    ALOX15ENSP000002937614STRING: ENSP00000293761
    ALOX15BENSP000003695304STRING: ENSP00000369530
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006497protein lipidation ISS--
    GO:0006629lipid metabolic process ----
    GO:0006665sphingolipid metabolic process IDA--
    GO:0008544epidermis development ----
    GO:0010628positive regulation of gene expression IMP--

    ALOX12B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ALOX12B for compounds           About GeneDecksing

    EMD Millipore small molecules for ALOX12B:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about ALOX12B / LX12B

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    miRNA
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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:

    BX095379 AF038461 BC041058 AF059250 NM_001139 BX348205 BX331920 BG698713 
    BG436629 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ALOX12B expression in normal human tissues (normalized intensities)      ALOX12B embryonic expression: see
    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 
     5/4 selected tissues (see all 4) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Pharynx
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   
     
     Uterus (Reproductive System)
             cervix   
     
     Tonsil (Hematopoietic System)

     -- (Integumentary System)
             skin   

    See ALOX12B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALOX12B

    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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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALOX12B

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ALOX12B gene from 3/10 species (see all 10)    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 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 6)
    --
    51(a)
    51(a)
    (see all 6)
    many ↔ many
    possible ortholog
    (see all 6)
    GL343400.1(684955-695029)
    GL343400.1(726949-745560)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1528916
    ALOX15B6
    arachidonate 15-lipoxygenase, type B
    38(a)
    38(a)
    possible ortholog
    1 ↔ many
    21(29958222-29989099)
    21(24924940-24935413)


    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)
    About This Section
    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

    ALOX12B for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/563 SNPs in ALOX12B are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 14 diseases for ALOX12B:    About MalaCards
    congenital ichthyosiform erythroderma    alox12b-related autosomal recessive congenital ichthyosis    autosomal recessive congenital ichthyosis    anhidrosis
    ichthyosis    skin disease    tonsillitis    keratoderma
    meningioma    ovarian cancer    dermatitis    myocardial infarction
    breast cancer    leukemia

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

    ALOX12B for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for ALOX12B gene, integrated from 9 sources (see all 42):
    (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. (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. (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. (2001)
    4. 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. (2002)
    5. Genotypic and clinical spectrum of self-improving col lodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients . (PubMed id 19890349)1, 2, 9 Vahlquist A....Fischer J. (2010)
    6. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    7. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    8. Gene variants associated with ischemic stroke: the cardiovascular health study. (PubMed id 19023099)1, 4 Luke M.M....Psaty B.M. (2009)
    9. Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women. (PubMed id 19372141)1, 4 Lee J.Y....Kang D. (2009)
    10. Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)1, 4 Palmieri R.T.... . (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    OMIM
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      (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)
    About This Section
    Entrez Gene: 242 HGNC: 430 AceView: ALOX12B Ensembl:ENSG00000179477 euGenes: HUgn242
    ECgene: ALOX12B Kegg: 242 H-InvDB: ALOX12B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ALOX12B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALOX12B

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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