• Gene id: 242

Gene Summary

• Gene Symbol: ALOX12B   Gene   UCSC   Ensembl
• Aliases: 12R-LOX, ARCI2
• Gene name: arachidonate 12-lipoxygenase, 12R type
• Alternate names: arachidonate 12-lipoxygenase, 12R-type, 12R-lipoxygenase, epidermis-type lipoxygenase 12,
• Gene location: 17p13.1 (8087715: 8072635)     Exons: 15     NC_000017.11
• Gene summary(Entrez): 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]
• OMIM: 604123

SNPs

rs12323635

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.95159374C>T
NC_000014.8   g.95625711C>T
NG_016311.1   g.3049G>A|SEQ=[C/T]|GENE=DICER1
DICER1-AS1   400242

rs1545125

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.51083534A>G
NC_000007.13   g.51151231A>G
NG_051816.1   g.238328T>C|SEQ=[A/G]|GENE=COBL

Protein Summary

• Protein general information: O75342  
  • Name: Arachidonate 12 lipoxygenase, 12R type (12R LOX) (12R lipoxygenase) (EC 1.13.11. ) (Epidermis type lipoxygenase 12)
  • Length: 701  
  • Mass: 80356
  • Tissue specificity: Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. {ECO
• Sequence:

  MATYKVRVATGTDLLSGTRDSISLTIVGTQGESHKQLLNHFGRDFATGAVGQYTVQCPQDLGELIIIRLHKERYA
  FFPKDPWYCNYVQICAPNGRIYHFPAYQWMDGYETLALREATGKTTADDSLPVLLEHRKEEIRAKQDFYHWRVFL
  PGLPSYVHIPSYRPPVRRHRNPNRPEWNGYIPGFPILINFKATKFLNLNLRYSFLKTASFFVRLGPMALAFKVRG
  LLDCKHSWKRLKDIRKIFPGKKSVVSEYVAEHWAEDTFFGYQYLNGVNPGLIRRCTRIPDKFPVTDDMVAPFLGE
  GTCLQAELEKGNIYLADYRIMEGIPTVELSGRKQHHCAPLCLLHFGPEGKMMPIAIQLSQTPGPDCPIFLPSDSE
  WDWLLAKTWVRYAEFYSHEAIAHLLETHLIAEAFCLALLRNLPMCHPLYKLLIPHTRYTVQINSIGRAVLLNEGG
  LSAKGMSLGVEGFAGVMVRALSELTYDSLYLPNDFVERGVQDLPGYYYRDDSLAVWNALEKYVTEIITYYYPSDA
  AVEGDPELQSWVQEIFKECLLGRESSGFPRCLRTVPELIRYVTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMR
  NPPIQTKGLTTLETFMDTLPDVKTTCITLLVLWTLSREPDDRRPLGHFPDIHFVEEAPRRSIEAFRQRLNQISHD
  IRQRNKCLPIPYYYLDPVLIENSISI

• Structural information:
  • Protein Domains: (2..11-)
    (/note="PLAT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00152-)
    (120..70-)
    (/note="Lipoxygenase-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00726"-)
  • Interpro: IPR000907  IPR013819  IPR036226  IPR020834  IPR020833   IPR001885  IPR001024  IPR036392  IPR042062  
  • Prosite: PS00711 PS00081 PS51393 PS50095
  • CDD: cd01753
  • STRING: ENSP00000315167
• Other Databases: GeneCards:  ALOX12B  Malacards:  ALOX12B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0048471	perinuclear region of cytoplasm	IBA	cellular component
GO:0043651	linoleic acid metabolic process	IBA	biological process
GO:0019372	lipoxygenase pathway	IBA	biological process
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IBA	molecular function
GO:0004052	arachidonate 12(S)-lipoxygenase activity	IBA	molecular function
GO:0051122	hepoxilin biosynthetic process	IBA	biological process
GO:0034440	lipid oxidation	IBA	biological process
GO:0019369	arachidonic acid metabolic process	IBA	biological process
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0055114	oxidation-reduction process	IDA	biological process
GO:0019372	lipoxygenase pathway	IDA	biological process
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	molecular function
GO:0006665	sphingolipid metabolic process	IDA	biological process
GO:0043410	positive regulation of MAPK cascade	IDA	biological process
GO:0070257	positive regulation of mucus secretion	IMP	biological process
GO:0055114	oxidation-reduction process	IMP	biological process
GO:0046513	ceramide biosynthetic process	ISS	biological process
GO:0043651	linoleic acid metabolic process	ISS	biological process
GO:0019372	lipoxygenase pathway	IMP	biological process
GO:0010628	positive regulation of gene expression	IMP	biological process
GO:0004052	arachidonate 12(S)-lipoxygenase activity	IMP	molecular function
GO:0019369	arachidonic acid metabolic process	ISS	biological process
GO:1990136	linoleate 9S-lipoxygenase activity	ISS	molecular function
GO:0061436	establishment of skin barrier	ISS	biological process
GO:0051122	hepoxilin biosynthetic process	ISS	biological process
GO:0019369	arachidonic acid metabolic process	IMP	biological process
GO:0019369	arachidonic acid metabolic process	ISS	biological process
GO:0006497	protein lipidation	ISS	biological process
GO:0005506	iron ion binding	IEA	molecular function
GO:0016702	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0051213	dioxygenase activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0019372	lipoxygenase pathway	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0004052	arachidonate 12(S)-lipoxygenase activity	IEA	molecular function
GO:0043651	linoleic acid metabolic process	IEA	biological process
GO:0046513	ceramide biosynthetic process	IEA	biological process
GO:0047677	arachidonate 8(R)-lipoxygenase activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0003824	catalytic activity	IEA	molecular function
GO:0006497	protein lipidation	IEA	biological process
GO:0019369	arachidonic acid metabolic process	IEA	biological process
GO:0061436	establishment of skin barrier	IEA	biological process
GO:1990136	linoleate 9S-lipoxygenase activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006665	sphingolipid metabolic process	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04726	Serotonergic synapse
hsa00590	Arachidonic acid metabolism

Diseases

Associated diseases	References
Autosomal recessive congenital ichthyosis	KEGG:H00734
Autosomal recessive congenital ichthyosis	KEGG:H00734
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq