Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	242
Gene name Gene Name - the full gene name approved by the HGNC.	Arachidonate 12-lipoxygenase, 12R type
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ALOX12B
Synonyms (NCBI Gene) Gene synonyms aliases	12R-LOX, ARCI2
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.1
Summary Summary of gene provided in NCBI Entrez 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]

Show/Hide all(19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853023	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853024	G>T	Pathogenic	Coding sequence variant, missense variant
rs199545653	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs199766569	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906349	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs397514526	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514527	G>A	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs397514528	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs397514529	C>T	Pathogenic	Coding sequence variant, missense variant
rs397514531	G>A	Pathogenic	Coding sequence variant, missense variant
rs397514532	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs746723399	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs750066836	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs752509098	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs780420901	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs936466427	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs1028050037	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1567980596	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1567985231	A>G	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all(3)

miRTarBase ID	miRNA	Experiments
MIRT1555916	hsa-miR-3150a-3p	CLIP-seq
MIRT1555917	hsa-miR-3175	CLIP-seq
MIRT1555918	hsa-miR-939	CLIP-seq

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004052	Function	Arachidonate 12(S)-lipoxygenase activity	IBA
GO:0004052	Function	Arachidonate 12(S)-lipoxygenase activity	IEA
GO:0004052	Function	Arachidonate 12(S)-lipoxygenase activity	IMP	15629692
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006497	Process	Protein lipidation	ISS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006665	Process	Sphingolipid metabolic process	IDA	21558561
GO:0006665	Process	Sphingolipid metabolic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IMP	22441738
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IDA	21558561
GO:0016702	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0019369	Process	Arachidonate metabolic process	IBA
GO:0019369	Process	Arachidonate metabolic process	IEA
GO:0019369	Process	Arachidonate metabolic process	IMP	15629692
GO:0019369	Process	Arachidonate metabolic process	ISS
GO:0019372	Process	Lipoxygenase pathway	IBA
GO:0019372	Process	Lipoxygenase pathway	IDA	21558561
GO:0019372	Process	Lipoxygenase pathway	IMP	15629692
GO:0034440	Process	Lipid oxidation	IBA
GO:0034440	Process	Lipid oxidation	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	22441738
GO:0043651	Process	Linoleic acid metabolic process	IBA
GO:0043651	Process	Linoleic acid metabolic process	IEA
GO:0043651	Process	Linoleic acid metabolic process	ISS
GO:0046513	Process	Ceramide biosynthetic process	IEA
GO:0046513	Process	Ceramide biosynthetic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0047677	Function	Arachidonate 8(R)-lipoxygenase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	9837935
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051122	Process	Hepoxilin biosynthetic process	IBA
GO:0051122	Process	Hepoxilin biosynthetic process	ISS
GO:0051213	Function	Dioxygenase activity	IEA
GO:0061436	Process	Establishment of skin barrier	IEA
GO:0061436	Process	Establishment of skin barrier	ISS
GO:0070257	Process	Positive regulation of mucus secretion	IMP	22441738
GO:0106237	Function	Arachidonate 12(R)-lipoxygenase activity	IEA
GO:1990136	Function	Linoleate 9S-lipoxygenase activity	IEA
GO:1990136	Function	Linoleate 9S-lipoxygenase activity	ISS

MIM	HGNC	e!Ensembl
603741	430	ENSG00000179477

Protein

UniProt ID

O75342

Protein name

Arachidonate 12-lipoxygenase, 12R-type (12R-LOX) (12R-lipoxygenase) (EC 1.13.11.-) (Epidermis-type lipoxygenase 12)

Protein 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:

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01477	PLAT	4 → 114	PLAT/LH2 domain	Domain
PF00305	Lipoxygenase	234 → 684	Lipoxygenase	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in B-cells, hair follicles, foreskin keratinocytes and adult skin. Also expressed in psoriatic tissue. {ECO:0000269|PubMed:9618483}.

Sequence

MATYKVRVATGTDLLSGTRDSISLTIVGTQGESHKQLLNHFGRDFATGAVGQYTVQCPQD
LGELIIIRLHKERYAFFPKDPWYCNYVQICAPNGRIYHFPAYQWMDGYETLALREATGKT
TADDSLPVLLEHRKEEIRAKQDFYHWRVFLPGLPSYVHIPSYRPPVRRHRNPNRPEWNGY
IPGFPILINFKATKFLNLNLRYSFLKTASFFVRLGPMALAFKVRGLLDCKHSWKRLKDIR
KIFPGKKSVVSEYVAEHWAEDTFFGYQYLNGVNPGLIRRCTRIPDKFPVTDDMVAPFLGE
GTCLQAELEKGNIYLADYRIMEGIPTVELSGRKQHHCAPLCLLHFGPEGKMMPIAIQLSQ
TPGPDCPIFLPSDSEWDWLLAKTWVRYAEFYSHEAIAHLLETHLIAEAFCLALLRNLPMC
HPLYKLLIPHTRYTVQINSIGRAVLLNEGGLSAKGMSLGVEGFAGVMVRALSELTYDSLY
LPNDFVERGVQDLPGYYYRDDSLAVWNALEKYVTEIITYYYPSDAAVEGDPELQSWVQEI
FKECLLGRESSGFPRCLRTVPELIRYVTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMR
NPPIQTKGLTTLETFMDTLPDVKTTCITLLVLWTLSREPDDRRPLGHFPDIHFVEEAPRR
SIEAFRQRLNQISHDIRQRNKCLPIPYYYLDPVLIENSISI

Sequence length

701

Interactions

View interactions

	KEGG		Reactome
	Arachidonic acid metabolism Metabolic pathways Serotonergic synapse		Synthesis of 12-eicosatetraenoic acid derivatives

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
congenital ichthyosis	Autosomal recessive congenital ichthyosis 2	rs387906349, rs199766569, rs137853023, rs1567980596, rs137853024, rs397514533, rs746723399, rs397514526, rs199545653, rs1028050037, rs397514527, rs752509098, rs1567985231, rs397514528, rs1567985261 View all (10 more)	N/A
ichthyosis	Ichthyosis	rs199766569	N/A
Lamellar ichthyosis	lamellar ichthyosis	rs1567982673, rs199766569, rs752509098, rs397514532	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Uterine Fibroids	Uterine fibroids	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Blood Coagulation Disorders Inherited	Associate	39501396
Bronchopulmonary Dysplasia	Associate	37478211
Carcinoma Squamous Cell	Associate	24070899
Ichthyosiform Erythroderma Congenital	Associate	17139268
Ichthyosis	Associate	27025581, 37040911
Lamellar ichthyosis type 3	Associate	17139268, 19131948, 22622417, 36854483
Lung Neoplasms	Stimulate	19170196
Multiple Myeloma	Associate	33338886
Neoplasms	Associate	35768785
Self Healing Collodion Baby	Associate	19890349
Skin Diseases	Associate	22936986
Squamous Cell Carcinoma of Head and Neck	Associate	35768785
Triple Negative Breast Neoplasms	Associate	40217479

ALOX12B (arachidonate 12-lipoxygenase, 12R type)