IL36A

Summary

IL36A (interleukin 36 alpha, HGNC:15562) is a protein-coding gene on chromosome 2q14.1, encoding Interleukin-36 alpha (Q9UHA7). Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response.

The protein encoded by this gene is a cytokine that can activate NF-kappa-B and MAPK signaling pathways to generate an inflammatory response. The encoded protein functions primarily in skin and demonstrates increased expression in psoriasis. In addition, decreased expression of this gene has been linked to a poor prognosis in both hepatocellular carcinoma and colorectal cancer patients.

Source: NCBI Gene 27179 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 30 total
• MANE Select transcript: NM_014440

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15562
Approved symbol	IL36A
Name	interleukin 36 alpha
Location	2q14.1
Locus type	gene with protein product
Status	Approved
Aliases	FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552
Ensembl gene	ENSG00000136694
Ensembl biotype	protein_coding
OMIM	605509
Entrez	27179

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000259211

RefSeq mRNA: 1 — MANE Select: NM_014440 NM_014440

CCDS: CCDS42734

Canonical transcript exons

ENST00000259211 — 4 exons

Exon	Start	End
ENSE00000925686	113005974	113006087
ENSE00000925687	113006598	113006737
ENSE00000925688	113007832	113008044
ENSE00001577327	113005459	113005881

Expression profiles

Bgee: expression breadth broad, 93 present calls, max score 98.16.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.6993 / max 391.4863, expressed in 15 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
22074	0.6993	15

Top tissues by expression

238 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	98.16	gold quality
esophagus mucosa	UBERON:0002469	92.62	gold quality
epithelium of esophagus	UBERON:0001976	87.66	gold quality
esophagus squamous epithelium	UBERON:0006920	87.15	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.64	gold quality
oral cavity	UBERON:0000167	81.53	gold quality
pharyngeal mucosa	UBERON:0000355	79.74	gold quality
tongue squamous epithelium	UBERON:0006919	78.36	gold quality
squamous epithelium	UBERON:0006914	78.12	gold quality
body of tongue	UBERON:0011876	76.04	gold quality
pancreatic ductal cell	CL:0002079	75.42	silver quality
buccal mucosa cell	CL:0002336	74.70	gold quality
cervix squamous epithelium	UBERON:0006922	70.39	gold quality
tongue	UBERON:0001723	68.83	gold quality
esophagus	UBERON:0001043	67.75	gold quality
quadriceps femoris	UBERON:0001377	66.32	gold quality
type B pancreatic cell	CL:0000169	66.30	gold quality
vastus lateralis	UBERON:0001379	66.04	gold quality
hair follicle	UBERON:0002073	64.33	gold quality
gingiva	UBERON:0001828	64.21	gold quality
tonsil	UBERON:0002372	64.19	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	63.97	gold quality
deltoid	UBERON:0001476	63.91	gold quality
mucosa of urinary bladder	UBERON:0001259	62.73	gold quality
sperm	CL:0000019	61.03	gold quality
tibialis anterior	UBERON:0001385	60.91	silver quality
male germ cell	CL:0000015	60.78	gold quality
vagina	UBERON:0000996	60.45	gold quality
cervix epithelium	UBERON:0004801	60.01	silver quality
superior surface of tongue	UBERON:0007371	59.25	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.98

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB

Literature-anchored findings (GeneRIF, showing 40)

• IL-1 epsilon, an interleukin-1 agonist, activates NF-kappa B through the orphan IL-1 receptor-related protein 2 and may constitute part of an independent signaling system present in human epithelial barriers. (PMID:11466363)
• A functional IL-6 polymorphism has been weakly associated with level of peak bone mineral density and the rate of forearm trabecular postmenopausal bone loss in a cohort of women. (PMID:12110411)
• IL-1F6 and IL-1F8, in addition to IL-1F9, activate the pathway leading to NF-kappaB in an IL-1Rrp2-dependent manner in Jurkat cells (PMID:14734551)
• Dysregulated expression in transgenic mice can promote cutaneous inflammation, revealing potential novel targets for the treatment of inflammatory skin disorders. (PMID:17908936)
• Expression of IL-1F6 is increased in human plaque psoriasis skin and in the lesional skin of transgenic mice compared with monotransgenic littermates. (PMID:21242515)
• Interleukin-36 (IL-36) ligands require processing for full agonist (IL-36alpha, IL-36beta, and IL-36gamma) or antagonist (IL-36Ra) activity (PMID:21965679)
• The novel cytokine interleukin-36alpha is expressed in psoriatic and rheumatoid arthritis synovium. (PMID:23268368)
• Results show that IL-36alpha expression may play a pivotal role in determining the prognosis of hepatocellular carcinoma (HCC). (PMID:24061617)
• IL-36 promotes myeloid cell infiltration, activation, and inflammatory activity in skin (PMID:24829417)
• IL-36alpha was highly expressed in nearly half of all colorectal cancer patients. Low expression level of IL-36alpha correlated with larger tumor size and advanced cancer stage. Low expression of IL-36alpha resulted in a poor prognosis of colorectal cancer patients. (PMID:25550854)
• increases maturation of monocyte-derived dendritic cells (PMID:25700962)
• IL36A-IL36R axis is modulated in patients with primary Sjogren’s syndrome. (PMID:25902739)
• Study shows that plasma concentrations of IL-36alpha and IL-36gamma are overexpressed in active systemic lupus erythematosus patients and that IL-36alpha has a substantial pro-inflammatory effect through regulation of IL-6 and CXCL8 production. (PMID:26516833)
• IL-36alpha acts as a pro-inflammatory cytokine at cartilage level, by increasing the expression of markers of inflammation and cartilage catabolism. (PMID:26560022)
• Increased Expression of Interleukin-36 is associated with Inflammatory Bowel Disease. (PMID:26752465)
• The data identify a novel role for IL-36 signaling in colonic inflammation and indicate that the IL-36R pathway may represent a novel target for therapeutic intervention. (PMID:26813344)
• Data suggest that interleukin-36alpha (IL-36alpha) plays an important role in the pathophysiology of inflammation and fibrosis in the pancreas via an autocrine function. (PMID:28099250)
• IL-36a was displayed to be able to suppress the growth of epithelial ovarian cancer cells in our setting, which is suggestive of its druggable potential in curing the epithelial ovarian cancer and that upregulation of IL-36a was found to be capable of inhibiting the growth of epithelial ovarian cancer cells. (PMID:28621240)
• With a focus on the skin as a target for microbial and viral invasion, the current knowledge of IL-36: IL-36alpha, IL-36beta and IL-36gamma, functions is reviewed. One physiological function of the IL-36smay be to counteract microbial immune evasion. [Review] (PMID:28811383)
• IL-36-mediated IL-6 and CXCL8 production in human lung fibroblasts and bronchial epithelial cells may be involved in pulmonary inflammation especially caused by bacterial or viral infections. (PMID:28869889)
• The molecular analysis revealed strong cooperative effects of IL-17A and IL-36 cytokines in regulating target genes, which was dependent on the proteolytic activation of the latter. Together these findings suggest an amplification cycle that can be initiated by IL-17A, involving IL-36 cytokines and immune cell derived proteases and resulting in active IL-36 cytokines which synergize with IL-17A (PMID:29142248)
• The authors report that, in Mycobacterium tuberculosis-infected macrophages, IL-36 signaling modulates cholesterol biosynthesis and efflux via LXR. (PMID:29367626)
• serum IL-36alpha levels were higher in active systemic lupus erythematosus patients and correlated with disease activity and arthritis (PMID:29571080)
• PTX3 and IL36alpha serum levels are increased in systemic lupus erythematosus patients when compared to normal control subjects (PMID:30243000)
• interleukin-36 alpha levels are elevated in the serum and cerebrospinal fluid of patients with neuromyelitis optica spectrum disorder and correlate with disease activity (PMID:30852049)
• These findings highlight the relevance of TGFBR2-IL-36 interplay in joint homeostasis. (PMID:31068441)
• The interleukin-36 (IL-36) pathway appears to be central to generalized pustular psoriasis (GPP) pathogenesis. (PMID:31486687)
• IL36A expression is significantly downregulated in healhty palatal mucosa of smokers (PMID:31682009)
• Structural insights into heme binding to IL-36alpha proinflammatory cytokine. (PMID:31729440)
• Biology of IL-36 Signaling and Its Role in Systemic Inflammatory Diseases. (PMID:31736959)
• IL-36 s in the colorectal cancer: is interleukin 36 good or bad for the development of colorectal cancer? (PMID:32013927)
• Serum IL-36 cytokines levels in type 2 diabetes mellitus patients and their association with obesity, insulin resistance, and inflammation. (PMID:33034926)
• Role of IL-36 Cytokines in the Regulation of Angiogenesis Potential of Trophoblast Cells. (PMID:33396613)
• Interleukin-36alpha suppresses growth of non-small cell lung cancer in vitro by reducing angiogenesis. (PMID:33713575)
• Elevated urinary IL-36alpha and IL-18 levels are associated with diabetic nephropathy in patients with type 2 diabetes mellitus. (PMID:34082505)
• Association of interleukin-36alpha gene expression in Egyptian patients with systemic lupus erythematosus with organ involvement and disease activity. (PMID:34185456)
• IL-36alpha and IL-36gamma expressions in the differential diagnosis of palmoplantar psoriasis and palmoplantar eczema: A retrospective histopathologic and immunohistochemical study. (PMID:34289144)
• Interleukin-36alpha inhibits colorectal cancer metastasis by enhancing the infiltration and activity of CD8(+) T lymphocytes. (PMID:34555640)
• Decreased serum profile of the interleukin-36alpha in polycystic ovary syndrome. (PMID:34794731)
• The Emerging Roles of IL-36, IL-37, and IL-38 in Diabetes Mellitus and its Complications. (PMID:35049442)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	il1fma	ENSDARG00000089383
danio_rerio	il1b	ENSDARG00000098700
mus_musculus	Il36a	ENSMUSG00000026984
rattus_norvegicus	Il36a	ENSRNOG00000005722

Paralogs (7): IL1B (ENSG00000125538), IL37 (ENSG00000125571), IL36G (ENSG00000136688), IL1RN (ENSG00000136689), IL36RN (ENSG00000136695), IL36B (ENSG00000136696), IL1F10 (ENSG00000136697)

Protein

Protein identifiers

Interleukin-36 alpha — Q9UHA7 (reviewed: Q9UHA7)

Alternative names: FIL1 epsilon, Interleukin-1 epsilon, Interleukin-1 family member 6

All UniProt accessions (1): Q9UHA7

UniProt curated annotations — full annotation on UniProt →

Function. Cytokine that binds to and signals through the IL1RL2/IL-36R receptor which in turn activates NF-kappa-B and MAPK signaling pathways in target cells linked to a pro-inflammatory response. Part of the IL-36 signaling system that is thought to be present in epithelial barriers and to take part in local inflammatory response; similar to the IL-1 system with which it shares the coreceptor IL1RAP. Seems to be involved in skin inflammatory response by acting on keratinocytes, dendritic cells and indirectly on T-cells to drive tissue infiltration, cell maturation and cell proliferation. In cultured keratinocytes induces the expression of macrophage, T-cell, and neutrophil chemokines, such as CCL3, CCL4, CCL5, CCL2, CCL17, CCL22, CL20, CCL5, CCL2, CCL17, CCL22, CXCL8, CCL20 and CXCL1, and the production of pro-inflammatory cytokines such as TNF, IL-8 and IL-6. In cultured monocytes up-regulates expression of IL-1A, IL-1B and IL-6. In myeloid dendritic cells involved in cell maturation by up-regulating surface expression of CD83, CD86 and HLA-DR. In monocyte-derived dendritic cells facilitates dendritic cell maturation and drives T-cell proliferation. May play a role in pro-inflammatory effects in the lung.

Subunit / interactions. Interacts with TMED10; the interaction mediates the translocation from the cytoplasm into the ERGIC (endoplasmic reticulum-Golgi intermediate compartment) and thereby secretion.

Subcellular location. Cytoplasm. Secreted.

Tissue specificity. Expressed in immune system and fetal brain, but not in other tissues tested or in multiple hematopoietic cell lines. Predominantly expressed in skin keratinocytes but not in fibroblasts, endothelial cells or melanocytes. Increased in lesional psoriasis skin.

Post-translational modifications. N-terminal truncation leads to a dramatic enhancement of its activity (>1000-fold).

Induction. By Il-1 and TNF.

Miscellaneous. Initial experiments using non-processed full-length protein found in vitro activity only in the ug range.

Similarity. Belongs to the IL-1 family.

RefSeq proteins (1): NP_055255* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000975	IL-1_fam	Family
IPR008996	IL1/FGF	Homologous_superfamily

Pfam: PF00340

UniProt features (24 total): strand 13, helix 3, sequence variant 3, turn 2, propeptide 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6HPI	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UHA7-F1	92.86	0.84

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 96

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9014826	Interleukin-36 pathway

MSigDB gene sets: 107 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, DARWICHE_PAPILLOMA_RISK_HIGH_UP, GOBP_POSITIVE_REGULATION_OF_CYTOKINE_PRODUCTION, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, MARTINEZ_RB1_TARGETS_UP, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_PRODUCTION_OF_MOLECULAR_MEDIATOR_INVOLVED_IN_INFLAMMATORY_RESPONSE

GO Biological Process (8): inflammatory response (GO:0006954), immune response (GO:0006955), cytokine-mediated signaling pathway (GO:0019221), positive regulation of interleukin-6 production (GO:0032755), innate immune response (GO:0045087), cellular response to lipopolysaccharide (GO:0071222), positive regulation of cytokine production (GO:0001819), immune system process (GO:0002376)

GO Molecular Function (3): cytokine activity (GO:0005125), interleukin-1 receptor binding (GO:0005149), protein binding (GO:0005515)

GO Cellular Component (3): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Interleukin-1 family signaling	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
defense response	1
immune system process	1
response to stimulus	1
cell surface receptor signaling pathway	1
cellular response to cytokine stimulus	1
positive regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
immune response	1
defense response to symbiont	1
response to lipopolysaccharide	1
cellular response to molecule of bacterial origin	1
cellular response to lipid	1
cellular response to oxygen-containing compound	1
cytokine production	1
regulation of cytokine production	1
positive regulation of gene expression	1
positive regulation of multicellular organismal process	1
biological_process	1
receptor ligand activity	1
cytokine receptor binding	1
growth factor receptor binding	1
binding	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

828 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL36A	IL1RL2	Q9HB29	966
IL36A	IL1RAP	Q9NPH3	824
IL36A	IL1A	P01583	787
IL36A	IL33	O95760	623
IL36A	IL1R1	P14778	606
IL36A	IL6	P05231	563
IL36A	IL36B	Q9NZH7	506
IL36A	IL18R1	Q13478	505
IL36A	IL36RN	Q9UBH0	497
IL36A	TNF	P01375	482
IL36A	NFKB1	P19838	456
IL36A	IL1RN	P18510	442
IL36A	IL17C	Q9P0M4	435
IL36A	IL17A	Q16552	429
IL36A	IFNG	P01579	426

IntAct

17 interactions, top by confidence:

A	B	Type	Score
CHTF8	IL36A	psi-mi:“MI:0915”(physical association)	0.670
CFTR	IL36A	psi-mi:“MI:0915”(physical association)	0.370
GADD45B	CNOT1	psi-mi:“MI:0914”(association)	0.350
NANOS2	CNOT1	psi-mi:“MI:0914”(association)	0.350
IL36A	RNF40	psi-mi:“MI:0914”(association)	0.350
SMIM12	VRK1	psi-mi:“MI:0914”(association)	0.350
OR2A4	A2ML1	psi-mi:“MI:0914”(association)	0.350
PPP2R2B	A2ML1	psi-mi:“MI:0914”(association)	0.350
CCR1	UBA6	psi-mi:“MI:0914”(association)	0.350
SSUH2	IGLC7	psi-mi:“MI:0914”(association)	0.350
CERS3	IGLC7	psi-mi:“MI:0914”(association)	0.350
AGPAT1	A2ML1	psi-mi:“MI:0914”(association)	0.350
TRIM54	IL36A	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (35): RNF20 (Affinity Capture-MS), RNF40 (Affinity Capture-MS), CARM1 (Affinity Capture-MS), CHTF8 (Affinity Capture-MS), RNF20 (Affinity Capture-MS), CHTF8 (Affinity Capture-MS), RNF40 (Affinity Capture-MS), IL36A (Affinity Capture-MS), IL36A (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), ACTA2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), TLK2 (Affinity Capture-MS), IL36A (Affinity Capture-MS), CARM1 (Affinity Capture-MS)

ESM2 similar proteins: A4UYK8, G1SRW8, O18999, O77482, P01584, P03969, P0C7P3, P10749, P13109, P14628, P15655, P18510, P20003, P25085, P25086, P26889, P26890, P41687, P46648, P48090, P48800, P51493, P70380, P79182, P97636, Q14116, Q28292, Q28386, Q29056, Q2HZH0, Q63264, Q6PUD2, Q6R2X3, Q865X8, Q866R8, Q8IXQ6, Q8QFQ8, Q8R460, Q8WNR2, Q9BEH0

Diamond homologs: O18999, O77482, P09428, P18510, P21621, P25085, P25086, P26890, P51745, P79162, Q29056, Q2MH07, Q866R8, Q8R459, Q8WNR2, Q8WWZ1, Q9BEH0, Q9D6Z6, Q9GMZ4, Q9NZH6, Q9QYY1, Q9UBH0, Q9UHA7, Q9YGD3, Q865X8, Q9XS77, Q6R2X3, Q8R460, Q9NZH8, A4UYK8, P01584, P10749, P14628, P26889, P41687, P46648, P48090, P51493, P79182, Q28292

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

30 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	27
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

625 predictions. Top by Δscore:

Variant	Effect	Δscore
2:113005972:A:AG	acceptor_gain	1.0000
2:113005973:G:GG	acceptor_gain	1.0000
2:113005973:GC:G	acceptor_gain	1.0000
2:113006083:TCCAG:T	donor_gain	1.0000
2:113006084:CCAG:C	donor_gain	1.0000
2:113006088:GTG:G	donor_loss	1.0000
2:113006596:A:AG	acceptor_gain	1.0000
2:113006597:G:GA	acceptor_gain	1.0000
2:113006597:GTCA:G	acceptor_gain	1.0000
2:113005688:G:GG	donor_gain	0.9900
2:113005969:A:AG	acceptor_gain	0.9900
2:113005971:CA:C	acceptor_loss	0.9900
2:113005973:G:GA	acceptor_loss	0.9900
2:113005973:GCAT:G	acceptor_gain	0.9900
2:113005973:GCATT:G	acceptor_gain	0.9900
2:113006085:CAG:C	donor_gain	0.9900
2:113006086:AG:A	donor_gain	0.9900
2:113006087:GG:G	donor_gain	0.9900
2:113006088:G:GG	donor_gain	0.9900
2:113006597:GT:G	acceptor_gain	0.9900
2:113006597:GTC:G	acceptor_gain	0.9900
2:113006618:T:G	acceptor_gain	0.9900
2:113006621:C:A	acceptor_gain	0.9900
2:113006625:ATGT:A	acceptor_gain	0.9900
2:113006626:T:G	acceptor_gain	0.9900
2:113007808:T:A	acceptor_gain	0.9900
2:113007820:C:A	acceptor_gain	0.9900
2:113007823:A:AG	acceptor_gain	0.9900
2:113007824:C:G	acceptor_gain	0.9900
2:113007828:TCA:T	acceptor_loss	0.9900

AlphaMissense

1043 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:113007946:T:C	F127L	0.976
2:113007948:C:A	F127L	0.976
2:113007948:C:G	F127L	0.976
2:113008021:T:C	F152L	0.964
2:113008023:T:A	F152L	0.964
2:113008023:T:G	F152L	0.964
2:113007886:T:C	F107L	0.962
2:113007888:C:A	F107L	0.962
2:113007888:C:G	F107L	0.962
2:113006030:T:A	W23R	0.959
2:113006030:T:C	W23R	0.959
2:113007934:T:C	F123L	0.946
2:113007936:C:A	F123L	0.946
2:113007936:C:G	F123L	0.946
2:113007924:G:C	E119D	0.940
2:113007924:G:T	E119D	0.940
2:113007887:T:C	F107S	0.939
2:113007880:T:C	F105L	0.935
2:113007882:T:A	F105L	0.935
2:113007882:T:G	F105L	0.935
2:113006014:T:A	D17E	0.905
2:113006014:T:G	D17E	0.905
2:113006012:G:C	D17H	0.900
2:113006025:G:C	R21P	0.900
2:113007887:T:G	F107C	0.898
2:113006663:T:G	Y64D	0.895
2:113007919:T:C	F118L	0.893
2:113007921:C:A	F118L	0.893
2:113007921:C:G	F118L	0.893
2:113007943:T:A	W126R	0.892

dbSNP variants (sampled 300 via entrez): RS1000370277 (2:113009472 T>C), RS1000463583 (2:113009292 T>C), RS1000702524 (2:113007912 C>T), RS1000817039 (2:113008308 C>T), RS1000854336 (2:113007638 T>A), RS1001464101 (2:113010704 A>G), RS1001517422 (2:113010431 C>T), RS1002353856 (2:113004814 T>C), RS1002495919 (2:113006861 T>C), RS1002636888 (2:113005966 C>T), RS1002830253 (2:113005344 T>G), RS1003099089 (2:113006227 G>A), RS1003192227 (2:113005720 A>C,T), RS1003275764 (2:113010114 C>T), RS1004370435 (2:113008562 C>T)

Disease associations

OMIM: gene MIM:605509 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, increases expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Particulate Matter	increases abundance, increases expression	2
pirinixic acid	increases activity, affects binding, decreases expression	1
bisphenol A	decreases methylation	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
CGP 52608	affects binding, increases reaction	1
Arsenic Trioxide	affects binding, decreases reaction	1
Air Pollutants	increases abundance, increases expression	1
Arsenic	decreases methylation	1
Lipopolysaccharides	affects cotreatment, increases expression	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.