ALOX12B arachidonate 12-lipoxygenase, 12R type [Homo sapiens (human)] - Gene

Summary

Official Symbol: ALOX12Bprovided by HGNC
Official Full Name: arachidonate 12-lipoxygenase, 12R typeprovided by HGNC
Primary source: HGNC:HGNC:430
See related: Ensembl:ENSG00000179477 MIM:603741; AllianceGenome:HGNC:430
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: ARCI2; 12R-LOX
Summary: 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]
Expression: Biased expression in skin (RPKM 26.9) and esophagus (RPKM 2.9) See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (8072636..8087716, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7978082..7993169, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7975954..7991034, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
Title: Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.
Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients.
Title: Survival-related indicators ALOX12B and SPRR1A are associated with DNA damage repair and tumor microenvironment status in HPV 16-negative head and neck squamous cell carcinoma patients.
Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Title: Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients.
Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.
Title: Unbound Corneocyte Lipid Envelopes in 12R-Lipoxygenase Deficiency Support a Specific Role in Lipid-Protein Cross-Linking.
A possible contribution of the SPNS2 variation to POI was not strictly ruled out, but various data presented in the text including reported association of variations in related gene ALOX12 with menopause-age and role of ALOX12B in atretic bovine follicle formation argue in favor of ALOX12B. It is, therefore, concluded that the mutation in ALOX12B is the likely cause of POI in the pedigree.
Title: Mutation in ALOX12B likely cause of POI and also ichthyosis in a large Iranian pedigree.
The rare homozygous ALOX12B mutation found in Patient 5 causes a change in a conserved residue; Leu315 into a proline in the catalytic domain of 12R-LOX.
Title: Summary of mutations underlying autosomal recessive congenital ichthyoses (ARCI) in Arabs with four novel mutations in ARCI-related genes from the United Arab Emirates.
report adds information on the clinical picture of autosomal recessive congenital ichthyosis caused by ALOX12B mutations
Title: A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis.
We found that the contribution of the ALOX12B gene to the pathogenesis of Autosomal Recessive Congenital Ichthyosis to be as important as that of TGM1 in families of Arab Muslim origin
Title: Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
Loss-of-function mutations in the LOX genes ALOX12B and ALOXE3 have been found to represent the second most common cause of autosomal recessive congenital ichthyosis. [review]
Title: The role of lipoxygenases in epidermis.
This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3. [review]
Title: The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier.

Submit: New GeneRIF Correction See all GeneRIFs (26)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Autosomal recessive congenital ichthyosis 2 MedGen: C3888093 OMIM: 242100 GeneReviews: Autosomal Recessive Congenital Ichthyosis	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables arachidonate 12(R)-lipoxygenase activity	IEA Inferred from Electronic Annotation more info
enables arachidonate 12(S)-lipoxygenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables arachidonate 12(S)-lipoxygenase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables arachidonate 8(R)-lipoxygenase activity	IEA Inferred from Electronic Annotation more info
enables iron ion binding	IEA Inferred from Electronic Annotation more info
enables isomerase activity	IEA Inferred from Electronic Annotation more info
enables linoleate 9S-lipoxygenase activity	ISS Inferred from Sequence or Structural Similarity more info
enables lyase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in arachidonate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in arachidonate metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in arachidonate metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in ceramide biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in establishment of skin barrier	ISS Inferred from Sequence or Structural Similarity more info
involved_in hepoxilin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in hepoxilin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in linoleic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in linoleic acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in lipid oxidation	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipoxygenase pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in lipoxygenase pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in lipoxygenase pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mucus secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein lipidation	ISS Inferred from Sequence or Structural Similarity more info
involved_in sphingolipid metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in perinuclear region of cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: arachidonate 12-lipoxygenase, 12R-type

Names: 12R-lipoxygenase; epidermis-type lipoxygenase 12

NP_001130.1

EC 1.13.11.-

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007099.2 RefSeqGene

Range

5001..20081

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1264

mRNA and Protein(s)

NM_001139.3 → NP_001130.1 arachidonate 12-lipoxygenase, 12R-type

See identical proteins and their annotated locations for NP_001130.1

Status: REVIEWED

Source sequence(s)

AC129492, AF059250, BC041058

Consensus CDS

CCDS11129.1

UniProtKB/Swiss-Prot

O75342

Related

ENSP00000497784.1, ENST00000647874.1

Conserved Domains (2) summary

cd01753
Location:2 → 116

PLAT_LOX; PLAT domain of 12/15-lipoxygenase. As a unique subfamily of the mammalian lipoxygenases, they catalyze enzymatic lipid peroxidation in complex biological structures via direct dioxygenation of phospholipids and cholesterol esters of biomembranes and ...

cl27717
Location:258 → 681

Lipoxygenase; Lipoxygenase