Seroatlas · Human Serome Atlas

ALOX12B

Arachidonate 12-lipoxygenase, 12R-type

Also known as: 12R-LOX, LX12B_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O75342
Gene: ALOX12B
Ensembl: ENSG00000179477
Chromosome: 17
Canonical length: 701 aa
Protein class: Disease related genes, Human disease related genes, Metabolic proteins, Predicted intracellular proteins
Subcellular location: Vesicles,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

701 residues, UniProt reviewed canonical sequence.

>O75342|ALOX12B
     1  MATYKVRVAT GTDLLSGTRD SISLTIVGTQ GESHKQLLNH FGRDFATGAV GQYTVQCPQD
    61  LGELIIIRLH KERYAFFPKD PWYCNYVQIC APNGRIYHFP AYQWMDGYET LALREATGKT
   121  TADDSLPVLL EHRKEEIRAK QDFYHWRVFL PGLPSYVHIP SYRPPVRRHR NPNRPEWNGY
   181  IPGFPILINF KATKFLNLNL RYSFLKTASF FVRLGPMALA FKVRGLLDCK HSWKRLKDIR
   241  KIFPGKKSVV SEYVAEHWAE DTFFGYQYLN GVNPGLIRRC TRIPDKFPVT DDMVAPFLGE
   301  GTCLQAELEK GNIYLADYRI MEGIPTVELS GRKQHHCAPL CLLHFGPEGK MMPIAIQLSQ
   361  TPGPDCPIFL PSDSEWDWLL AKTWVRYAEF YSHEAIAHLL ETHLIAEAFC LALLRNLPMC
   421  HPLYKLLIPH TRYTVQINSI GRAVLLNEGG LSAKGMSLGV EGFAGVMVRA LSELTYDSLY
   481  LPNDFVERGV QDLPGYYYRD DSLAVWNALE KYVTEIITYY YPSDAAVEGD PELQSWVQEI
   541  FKECLLGRES SGFPRCLRTV PELIRYVTIV IYTCSAKHAA VNTGQMEFTA WMPNFPASMR
   601  NPPIQTKGLT TLETFMDTLP DVKTTCITLL VLWTLSREPD DRRPLGHFPD IHFVEEAPRR
   661  SIEAFRQRLN QISHDIRQRN KCLPIPYYYL DPVLIENSIS I

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ALOX12B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.21
Highest tissue expression: 90 nTPM

Expression across tissuesHPA

Tissue

skin: 90 nTPM
tonsil: 18 nTPM
vagina: 14 nTPM
cervix: 12 nTPM
esophagus: 5.3 nTPM
breast: 1.9 nTPM

Single-cell type

tuft cells: 69 nCPM
esophageal apical cells: 14 nCPM
suprabasal keratinocytes: 8 nCPM
megakaryocyte-erythroid progenitors: 5.4 nCPM
esophageal suprabasal cells: 5.1 nCPM
oocytes: 4.6 nCPM

Immune cell

basophil: 4.3 nTPM
naive CD8 T-cell: 0.7 nTPM
memory B-cell: 0.6 nTPM
naive CD4 T-cell: 0.5 nTPM
MAIT T-cell: 0.4 nTPM
gdT-cell: 0.2 nTPM

Brain region

cerebral cortex: 1.7 nTPM
basal ganglia: 1.5 nTPM
pons: 1.5 nTPM
cerebellum: 1.3 nTPM
thalamus: 1.3 nTPM
amygdala: 1.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ALOX12B.

Disease | AllUniProt

Conditions ALOX12B is implicated in, by any mechanism.

Ichthyosis, congenital, autosomal recessive 2 (ARCI2) MIM:242100

Disease | GeneticClinVar

146 pathogenic / likely-pathogenic of 435 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive congenital ichthyosis 2
Lamellar ichthyosis
Ichthyosis and erythrokeratoderma
ALOX12B-related disorder
Congenital ichthyosiform erythroderma

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.55
gnomAD pLI: 0
gnomAD missense Z: 1.4
DepMap mean gene effect: 0.07
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

arachidonate 12(S)-lipoxygenase activity
iron ion binding
isomerase activity
linoleate 9S-lipoxygenase activity
lyase activity
oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
arachidonate 12(R)-lipoxygenase activity
arachidonate 8(R)-lipoxygenase activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ALOX12B as an antibody target. Whether an autoantibody or antibody against ALOX12B could matter depends on whether native ALOX12B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ALOX12B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ALOX12B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...