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ALOX12B Gene

protein-coding   GIFtS: 60

GC17M007916
arachidonate 12-lipoxygenase, 12R type
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
12R-LOX 1, 2, 3
12R-lipoxygenase 3
EC 1.13.11.- 3
Descriptions
Epidermis-type lipoxygenase 12 2, 3
arachidonate 12-lipoxygenase, 12R type 2
External Ids
HGNC: 4301
Entrez Gene: 2422
UniProtKB: O753423
Ensembl: ENSG000001794777
Search outside databases for aliases for ALOX12B gene

Previous GC identifers: GC17P008465 GC17M008847 GC17M007918 GC17M008176

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for ALOX12B:
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]

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

Gene Wiki entry for ALOX12B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ALOX12B gene  

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)

GeneLoc gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M007916:     (about GC identifiers)

Start:
7,916,679 bp from pter
End:
7,931,746 bp from pter
Size:
15,068 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000017.9  NT_010718.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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)

REFSEQ proteins: NP_001130.1  

ENSEMBL proteins: 
ENSP00000315167 


Human Recombinant Proteins 
Browse Drug Discovery Central at Invitrogen for human recombinant proteins
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
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Enzo Life Sciences proteins for ALOX12B
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (ALOX12B)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


Antibodies for ALOX12B: 
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Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for ALOX12B
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Monoclonal and Polyclonal Antibodies from Abnova (ALOX12B)
Novus Biologicals Antibodies for ALOX12B

Assays for ALOX12B: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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4 InterPro domains/families:
 IPR013819 LipOase_C
 IPR001024 LipOase_LH2
 IPR000907 LipOase
 IPR001885 LipOase_mml


   GeneDecks  ALOX12B for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry O75342

ProtoNet protein and cluster: O75342

3 Blocks protein families:
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

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ALOX12B)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ALOX12B)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001139

              Applied Biosystems Silencer® siRNAs for ALOX12B

              Sigma-Aldrich siRNA and siRNA Panels for ALOX12B  
                     Sigma-Aldrich shRNA for ALOX12B  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for ALOX12B
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001139
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001139
                                 untagged cDNA clone in CMV expression vector: NM_001139 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_001139

UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342
Function: Converts arachidonic acid to 12R-hydroperoxyeicosatetraenoic acid (12R-HPETE)
Enzyme Number (IUBMB): EC 1.13.11.- 

4 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Alox12b):

homeostasis/metabolismlethality-prenatal/perinatalno phenotypic analysisskin/coat/nails

5 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0004052 arachidonate 12-lipoxygenase activity TAS9618483
GO:0005506 iron ion binding IEA--
GO:0016165 lipoxygenase activity IEA--
GO:0016491 oxidoreductase activity IEA--
GO:0046872 metal ion binding IEA--
About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Invitrogen iPath™ Online BioAtlas - Pathway for ALOX12B (Maps provided by GeneGo):
 Angiotensin activation of Akt

   GeneDecks  ALOX12B for the pathways selected above  
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2 Millipore Pathways for ALOX12B
 Prostaglandin 2 biosynthesis and metabolism FM
 HETE and HPETE biosynthesis and metabolism

   GeneDecks  ALOX12B for the pathways selected above  
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3 Sigma-Aldrich "Your Favorite Gene" Pathways for  ALOX12B  (Your Favorite Gene powered by Ingenuity) 
 Linoleic Acid Metabolism
 Eicosanoid Signaling
 Arachidonic Acid Metabolism

   GeneDecks  ALOX12B for the pathways selected above  
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1 Kegg Pathway  (Kegg details for ALOX12B):
 hsa00590 Arachidonic acid metabolism

   GeneDecks  ALOX12B for the pathways selected above  
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UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342
Pathway: Lipid metabolism; leukotriene D4 biosynthesis

4 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006629 lipid metabolic process TAS9618483
GO:0008544 epidermis development TAS9618483
GO:0019370 leukotriene biosynthetic process IEA--
GO:0055114 oxidation reduction IEA--
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Enzo Life Sciences drugs & compounds for ALOX12B
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for ALOX12B
2 Novoseek chemical compound relationships for ALOX12B gene
Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
12(r)-hpete 98.04 3 15629692 (1), 11368351 (1), 18086569 (1)
arachidonic acid 48.18 1 17436029 (1)
About this table


(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (ALOX12B)
Browse for Gene Knock-down Tools from Millipore
Abnova Chimera RNAi Products for Gene knock-down (ALOX12B)
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_001139

              Sigma-Aldrich siRNA and siRNA Panels for ALOX12B  
                     Sigma-Aldrich shRNA for ALOX12B  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_001139  

REFSEQ mRNAs for ALOX12B gene: 

NM_001139.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_001139  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_001139
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_001139
                                 untagged cDNA clone in CMV expression vector: NM_001139 

Additional cDNA 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:

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

highest scoring ESTs for ALOX12B:

AF059250 AF038461 BC041058 BM563254 AA649213 BE715737 BG698713 BI667266 NM_001139 BG436629 

Unigene Cluster for ALOX12B:

Arachidonate 12-lipoxygenase, 12R type
Hs.136574  [show with all ESTs]
Unigene Representative Sequence: NM_001139


GeneLoc Exon Structure

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

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

About this scheme

ECgene alternative splicing isoforms for ALOX12B

1 Ensembl transcript including schematic representation:
ENST00000319144  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

ALOX12B expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for ALOX12B

1 / 2 / 3

3 probe-sets matching ALOX12B gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

33029_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF059250 1.00 1.00 1.00 1

207381_at2, 3 U133-A 1 1.00 1.00 -- -- NM_001139 0.60 1.00 0.82 1

207381_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GACACGTTGC

SOURCE GeneReport for Unigene cluster: Hs.136574

Expression variation in blood from EXPOLDB for ALOX12B

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

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for ALOX12B gene from 5 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
ALOX12B1   -- arachidonate 12-lipoxygenase, 12R type 88.17(n)
88.41(a)
489486  XM_546604.2  XP_546604.2 
chimpanzee
(Pan troglodytes)
ALOX12B1   -- arachidonate 12-lipoxygenase, 12R type 99.62(n)
99.71(a)
455103  XM_511864.2  XP_511864.2 
cow
(Bos taurus)
ALOX12B1   -- arachidonate 12-lipoxygenase, 12R type 88.32(n)
88.41(a)
504803  XM_580977.2  XP_580977.2 
rat
(Rattus norvegicus)
Alox12b1   -- arachidonate 12-lipoxygenase, 12R type 84.59(n)
86.59(a)
287425  NM_001039377.1  NP_001034466.1 
mouse
(Mus musculus)
Alox12b1, 5 11 (37.00 cM)5
arachidonate 12-lipoxygenase, 12R type1, 5 84.21(n)1
86.02(a)1
116861  NM_009659.21  NP_033789.11 
 AF0592515  AK0190915  (see all 9)
About this table        Species with no ortholog for ALOX12B

ENSEMBL Gene Tree for ALOX12B
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for ALOX12B gene
ALOX52  ALOXE32  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/112 NCBI SNPs in ALOX12B are shown (see all 112 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 75)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 17 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs22786351,2
A,C,F,H7931640(+) TGACTA/GGGCCT 1 -- ut517Minor allele frequency- G:0.41NA EU EA WA 562
rs47921991,2
A,C,F,H7932843(+) TGATAT/CTGAGC 1 -- ng318Minor allele frequency- C:0.44EU EA WA 836
rs30273091,2
C,F,H7931814(+) AAGGGC/TGGATA 1 -- ng31 tfbs38Minor allele frequency- T:0.14NA EU EA WA 632
rs80776611,2
C,F,H7930131(+) ACGGCC/TGTTGG 1 G/S mis1 ese34Minor allele frequency- T:0.01EU EA WA 406
rs99037121,2
C,H7932353(+) AGAAGA/CCCAAA 1 -- ng314Minor allele frequency- C:0.00EU EA WA 416
rs98893611,2
A,C7916489(+) CTGGCC/TCAGAT 1 -- ng510--------
--
rs99097841,2
C7932055(+) GAGGGG/TAGGGG 1 -- ng310--------
rs30273081,2
A,C,F,H7931444(+) GACAAG/AAGGTC 1 L/L syn1 ese37Minor allele frequency- A:0.05NA EU EA WA 562
rs30272991,2
A,C,F,H,O7929569(+) TAAATG/AGGATA 1 -- int111Minor allele frequency- A:0.36EU EA WA NA 978
rs80817181,2
A,C,F,H7921507(+) TGCCTT/CCTCTG 1 -- int17Minor allele frequency- C:0.07EU EA WA NA 558
About this table

HapMap Linkage Disequilibrium images for ALOX12B (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 603741   disorders: 242100  

UniProtKB/Swiss-Prot: LX12B_HUMAN, O75342

  • Defects in ALOX12B are a cause of non-bullous congenital ichthyosiform erythroderma (NCIE)
    [MIM:242100]. NCIE is a non-bullous ichthyosis, a skin disorder characterized by abnormal
    cornification of the epidermis. Most affected individuals are born with a tight, shiny,
    translucent covering called collodion membrane. The collodion membrane subsequently evolves into
    generalized scaling and intense redness of the skin. Clinical features are milder than in lamellar
    ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of
    scales. In contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms
    and soles are severely affected. Patients suffer from palmoplantar keratoderma, often with painful
    fissures, digital contractures, and loss of pulp volume
  • 5 Novoseek disease relationships for ALOX12B gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    ichthyosiform erythroderma nonbullous congenital 95.92 2 16792775 (1), 18347291 (1)
    congenital ichthyosis 90.33 7 17139268 (2), 18086569 (1), 19122646 (1)
    ichthyosiform erythroderma congenital 89.91 4 11773004 (2), 15629692 (1), 17139268 (1)
    ichthyosis 88.80 6 18086569 (1), 19122646 (1), 17436029 (1), 18341575 (1)
    skin diseases 40.04 1 15086555 (1)
    About this table

    GeneTests: ALOX12B
    Autosomal Recessive Congenital Ichthyosis

    Human Gene Mutation Database: ALOX12B
    Human Genome Epidemiology Navigator: ALOX12B (5 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/31 PubMed articles for ALOX12B gene (see all 31 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 242 HGNC: 430 AceView: ALOX12B Ensembl:ENSG00000179477 euGenes: HUgn242
    ECgene: ALOX12B H-InvDB: ALOX12B
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=ALOX12B
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for ALOX12B:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     "Your Favorite Gene" Pathwaysfeedback


      
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