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] See more...

Aliases for ALOX12B Gene

Aliases for ALOX12B Gene

  • Arachidonate 12-Lipoxygenase, 12R Type 2 3 5
  • 12R-Lipoxygenase 2 3 4
  • Arachidonate 12-Lipoxygenase, 12R-Type 3 4
  • Epidermis-Type Lipoxygenase 12 3 4
  • 12R-LOX 3 4
  • EC 1.13.11.33 52
  • 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
  • GC17M008583
  • GC17M008619
  • GC17M008666
  • GC17M008103
  • GC17M008119
  • GC17M008332
  • GC17M008401
  • GC17M008433
  • GC17M008470
  • GC17M008510
  • GC17M008542

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 Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Arachidonic acid metabolism and 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 Summary for ALOX12B Gene

  • Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:9837935, PubMed:9618483, PubMed:21558561). 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 (PubMed:21558561). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:21558561). May also play a role in the regulation of the expression of airway mucins (PubMed:22441738).

Gene Wiki entry for ALOX12B Gene

Additional gene information for ALOX12B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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
GH17J008088 Promoter 0.7 EPDnew 500.7 0.0 -20 0.1 KLF4 EP300 CHD2 RCOR1 MAZ PKNOX1 NFYB KLF17 KLF1 GATA3 ALOX12B MIR4314
GH17J008087 Enhancer 0.6 ENCODE 500.7 -0.2 -202 0.2 KLF4 EP300 CHD2 RCOR1 MAZ PKNOX1 NFYB KLF17 KLF1 GATA3 ALOX12B MIR4314
GH17J008055 Promoter/Enhancer 1.3 Ensembl ENCODE 11.4 +30.8 30772 2.6 CTCF POLR2G NCOR1 KDM6A TCF7 FOXA1 REST CUX1 ZBTB25 MYC ENSG00000263427 RF00017-2267 lnc-ALOX15B-3 LOC107985075 NAA38 GUCY2D ALOX12B CNTROB TRAPPC1 KCNAB3
GH17J008062 Enhancer 0.9 ENCODE 13.2 +24.9 24881 0.8 BCLAF1 ZNF639 ZNF10 TRIM28 CTBP1 ZEB1 OSR2 EZH2 BCL11A WT1 ENSG00000275011 lnc-ALOX12B-1 piR-41245-101 ALOX12B CYB5D1 ALOX15B GUCY2D SNORD118 TMEM107 HES7
GH17J008111 Enhancer 0.8 ENCODE 13.7 -22.7 -22682 0.2 CTCF ZIC2 GABPA REST RAD21 CTBP1 TRIM22 SMC3 HDAC2 MYC ALOX12B LOC107985075 ALOX15B SNORD118 TMEM107 CNTROB TRAPPC1 KCNAB3 PFAS ALOXE3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ALOX12B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ALOX12B

Top Transcription factor binding sites by QIAGEN in the ALOX12B gene promoter:
  • AREB6
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • HNF-4alpha1
  • p300

Genomic Locations for ALOX12B Gene

Genomic Locations for ALOX12B Gene
chr17:8,072,636-8,087,716
(GRCh38/hg38)
Size:
15,081 bases
Orientation:
Minus strand
chr17:7,975,954-7,991,021
(GRCh37/hg19)
Size:
15,068 bases
Orientation:
Minus strand

Genomic View for ALOX12B Gene

Genes around ALOX12B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALOX12B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALOX12B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALOX12B Gene

Proteins for ALOX12B Gene

  • Protein details for ALOX12B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75342-LX12B_HUMAN
    Recommended name:
    Arachidonate 12-lipoxygenase, 12R-type
    Protein Accession:
    O75342

    Protein attributes for ALOX12B Gene

    Size:
    701 amino acids
    Molecular mass:
    80356 Da
    Cofactor:
    Name=Fe cation; Xref=ChEBI:CHEBI:24875;
    Quaternary structure:
    No Data Available

neXtProt entry for ALOX12B Gene

Selected DME Specific Peptides for ALOX12B Gene

O75342:
  • DRRPLGH
  • TCSAKHAAV

Post-translational modifications for ALOX12B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ALOX12B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ALOX12B Gene

Gene Families for ALOX12B Gene

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

Protein Domains for ALOX12B Gene

Blocks:
  • Lipoxygenase
  • Lipoxygenase, LH2 domain
  • Mammalian lipoxygenase signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ALOX12B Gene

GenScript: Design optimal peptide antigens:
  • Epidermis-type lipoxygenase 12 (LX12B_HUMAN)

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 Function:
Catalyzes the regio and stereo-specific incorporation of a single molecule of dioxygen into free and esterified polyunsaturated fatty acids generating lipid hydroperoxides that can be further reduced to the corresponding hydroxy species (PubMed:9837935, PubMed:9618483, PubMed:21558561). 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 (PubMed:21558561). Therefore plays a crucial role in the synthesis of corneocytes lipid envelope and the establishment of the skin barrier to water loss (PubMed:21558561). May also play a role in the regulation of the expression of airway mucins (PubMed:22441738).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = (12R)-hydroperoxy-(5Z,8Z,10E,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:41336, ChEBI:CHEBI:15379, ChEBI:CHEBI:32395, ChEBI:CHEBI:75230; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41337; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-[omega-(9Z,12Z)-octadecadienoyloxy]acyl-beta-D-glucosyl-(1<->1)-octadecasphing-4E-enine + O2 = N-[omega-(9R)-hydroperoxy-(10E,12Z)-octadecadienoyloxy]acyl-beta-D-glucosyl-(1<->1)-octadecasphing-4E-enine; Xref=Rhea:RHEA:40495, ChEBI:CHEBI:15379, ChEBI:CHEBI:134621, ChEBI:CHEBI:134624; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:40496; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=N-acyl (9Z,12Z)-octadecadienoate octadecasphin-4E-enine + O2 = N-acyl (9R)-hydroperoxy-(10E,12Z)-octadecadienoate octadecasphing-4E-enine; Xref=Rhea:RHEA:41239, ChEBI:CHEBI:15379, ChEBI:CHEBI:77888, ChEBI:CHEBI:77889; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41240; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6Z,9Z,12Z)-octadecatrienoate + O2 = 10-hydroperoxy-(6Z,8E,12Z)-octadecatrienoate; Xref=Rhea:RHEA:43476, ChEBI:CHEBI:15379, ChEBI:CHEBI:32391, ChEBI:CHEBI:83342; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43477; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(4Z,7Z,10Z,13Z,16Z,19Z)-docosahexaenoate + O2 = 14-hydroperoxy-(4Z,7Z,10Z,12E,16Z,19Z)-docosahexaenoate; Xref=Rhea:RHEA:43472, ChEBI:CHEBI:15379, ChEBI:CHEBI:77016, ChEBI:CHEBI:83336; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43473; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(8Z,11Z,14Z)-eicosatrienoate + O2 = (8Z,10E,14Z)-12-hydroperoxyeicosatrienoate; Xref=Rhea:RHEA:43468, ChEBI:CHEBI:15379, ChEBI:CHEBI:71589, ChEBI:CHEBI:83334; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43469; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(5Z,8Z,11Z,14Z,17Z)-eicosapentaenoate + O2 = (5Z,7Z,8Z,10E,14Z,17Z)-12-hydroperoxyeicosapentaenoate; Xref=Rhea:RHEA:41344, ChEBI:CHEBI:15379, ChEBI:CHEBI:58562, ChEBI:CHEBI:78078; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41345; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6Z,9Z,12Z)-octadecatrienoate + O2 = 10R-hydroperoxy-(6Z,8E,12Z)-octadecatrienoate; Xref=Rhea:RHEA:41340, ChEBI:CHEBI:15379, ChEBI:CHEBI:32391, ChEBI:CHEBI:78070; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41341; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-methyl-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl (5Z,8Z,10E,12R,14Z)-hydroperoxyiecosatetraenoate; Xref=Rhea:RHEA:41311, ChEBI:CHEBI:15379, ChEBI:CHEBI:78033, ChEBI:CHEBI:78034; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:41312; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-methyl-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-8-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:43480, ChEBI:CHEBI:15379, ChEBI:CHEBI:78033, ChEBI:CHEBI:83344; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:43481; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-methyl-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-(8R)-hydroperoxy-(5Z,9E,11Z,14Z)-eicosatrienoate; Xref=Rhea:RHEA:61868, ChEBI:CHEBI:15379, ChEBI:CHEBI:78033, ChEBI:CHEBI:78180; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61869; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-methyl-(9Z,12Z)-octadecadienoate + O2 = 1-O-methyl-(9R)-hydroperoxy-(10E,12Z)-octadecadienoate; Xref=Rhea:RHEA:61872, ChEBI:CHEBI:15379, ChEBI:CHEBI:69080, ChEBI:CHEBI:145036; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61873; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-methyl-20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-8-hydroperoxy-20-hydroxy-(5Z,9E,11Z,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:61876, ChEBI:CHEBI:15379, ChEBI:CHEBI:145032, ChEBI:CHEBI:145033; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61877; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-methyl-20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-12-hydroperoxy-20-hydroxy-(5Z,8Z,10E,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:61880, ChEBI:CHEBI:15379, ChEBI:CHEBI:145032, ChEBI:CHEBI:145034; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61881; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-O-methyl-20-hydroxy-(5Z,8Z,11Z,14Z)-eicosatetraenoate + O2 = 1-O-methyl-9-hydroperoxy-20-hydroxy-(5Z,7E,11Z,14Z)-eicosatetraenoate; Xref=Rhea:RHEA:61884, ChEBI:CHEBI:15379, ChEBI:CHEBI:145032, ChEBI:CHEBI:145035; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:61885; Evidence=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Increased by calcium.

Enzyme Numbers (IUBMB) for ALOX12B Gene

Phenotypes From GWAS Catalog 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 IMP 15629692
GO:0005506 iron ion binding IEA --
GO:0005515 protein binding IEA,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,IEA 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:

Animal Model Products

  • Taconic Biosciences Mouse Models for ALOX12B

Clone Products

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for ALOX12B Gene

Localization for ALOX12B Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALOX12B Gene

Cytoplasm. Cytoplasm, perinuclear region.

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
peroxisome 2
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 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

2 GeneGo (Thomson Reuters) pathways for ALOX12B Gene
  • HETE and HPETE biosynthesis and metabolism
  • Prostaglandin 2 biosynthesis and metabolism FM

UniProtKB/Swiss-Prot O75342-LX12B_HUMAN

  • Pathway: Lipid metabolism; hydroperoxy eicosatetraenoic acid biosynthesis.
  • Pathway: Lipid metabolism; sphingolipid metabolism.

Interacting Proteins for ALOX12B Gene

;

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 IEA,IDA 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

(2) Drugs for ALOX12B Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved, Experimental Pharma 1496
arachidonic acid Experimental Pharma Activator, Inhibitor, Agonist, Activation, Potentiation 39

(2) Additional Compounds for ALOX12B Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
12(R)-HPETE
  • (5Z,8Z,10E,14Z)-(12R)-12-Hydroperoxyeicosa-5,8,10,14-tetraenoic acid
  • (5Z,8Z,10E,14Z)-(12R)-12-Hydroperoxyicosa-5,8,10,14-tetraenoic acid
  • (5Z,8Z,10E,14Z)-(12R)-12-Hydroperoxyeicosa-5,8,10,14-tetraenoate
  • (5Z,8Z,10E,14Z)-(12R)-12-Hydroperoxyicosa-5,8,10,14-tetraenoate
  • 12R-HpETE
126873-49-2
genes like me logo Genes that share compounds with ALOX12B: view

Transcripts for ALOX12B Gene

mRNA/cDNA for ALOX12B Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

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

Expression for ALOX12B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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 and MOPED for ALOX12B Gene



Protein tissue co-expression partners for ALOX12B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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 31 30
  • 99.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ALOX12B 31 30
  • 88.32 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ALOX12B 31 30
  • 88.13 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Alox12b 30
  • 84.59 (n)
mouse
(Mus musculus)
Mammalia Alox12b 17 31 30
  • 84.21 (n)
oppossum
(Monodelphis domestica)
Mammalia ALOX12B 31
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALOX12B 31
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 31
  • 41 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 51 (a)
ManyToMany
-- 31
  • 51 (a)
ManyToMany
-- 31
  • 49 (a)
ManyToMany
-- 31
  • 49 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii ALOXE3 31
  • 38 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 36 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
CSA.6148 31
  • 29 (a)
ManyToMany
-- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ALOX12B: view image

Paralogs for ALOX12B Gene

Paralogs for ALOX12B Gene

(5) SIMAP similar genes for ALOX12B Gene using alignment to 1 proteins:

  • LX12B_HUMAN
genes like me logo Genes that share paralogs with ALOX12B: view

Variants for ALOX12B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ALOX12B Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
39544 Pathogenic: Autosomal recessive congenital ichthyosis 2 8,081,188(-) C/T SPLICE_ACCEPTOR_VARIANT
623358 Uncertain Significance: Autosomal recessive congenital ichthyosis 2 8,080,674(-) CGAA/C INFRAME_DELETION
638492 Conflicting Interpretations: not provided 8,075,683(-) C/A SYNONYMOUS_VARIANT
716896 Likely Benign: not provided 8,076,195(-) C/T SYNONYMOUS_VARIANT
724112 Likely Benign: not provided 8,086,206(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ALOX12B Gene

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

(13) MalaCards diseases for ALOX12B Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, 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 23 54
  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 23 54
  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 41 54
  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 23 54
  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 23 54

Products for ALOX12B Gene

Sources for ALOX12B Gene