IL24

Summary

IL24 (interleukin 24, HGNC:11346) is a protein-coding gene on chromosome 1q32.1, encoding Interleukin-24 (Q13007). Multifunctional cytokine mainly produced by T-cells that plays a regulatory role in immune response, tissue homeostasis, host defense, and oncogenesis.

This gene encodes a member of the IL10 family of cytokines. It was identified as a gene induced during terminal differentiation in melanoma cells. The protein encoded by this gene can induce apoptosis selectively in various cancer cells. Overexpression of this gene leads to elevated expression of several GADD family genes, which correlates with the induction of apoptosis. The phosphorylation of mitogen-activated protein kinase 14 (MAPK7/P38), and heat shock 27kDa protein 1 (HSPB2/HSP27) are found to be induced by this gene in melanoma cells, but not in normal immortal melanocytes. Alternatively spliced transcript variants encoding distinct isoforms have been reported.

Source: NCBI Gene 11009 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 38 total
• MANE Select transcript: NM_006850

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11346
Approved symbol	IL24
Name	interleukin 24
Location	1q32.1
Locus type	gene with protein product
Status	Approved
Aliases	mda-7, IL10B, Mob-5, C49A, FISP, IL-24
Ensembl gene	ENSG00000162892
Ensembl biotype	protein_coding
OMIM	604136
Entrez	11009

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000294984, ENST00000367093, ENST00000367095, ENST00000391929, ENST00000480741, ENST00000491169, ENST00000611909

RefSeq mRNA: 4 — MANE Select: NM_006850 NM_001185156, NM_001185157, NM_001185158, NM_006850

CCDS: CCDS1471, CCDS53465, CCDS53466, CCDS73021

Canonical transcript exons

ENST00000294984 — 7 exons

Exon	Start	End
ENSE00001069576	206899320	206899515
ENSE00001818514	206897443	206897615
ENSE00002241804	206897731	206897876
ENSE00003524457	206900295	206900357
ENSE00003559228	206901494	206901652
ENSE00003571047	206902976	206904139
ENSE00003602662	206901998	206902072

Expression profiles

Bgee: expression breadth ubiquitous, 138 present calls, max score 88.62.

FANTOM5 (CAGE): breadth broad, TPM avg 5.3152 / max 2707.4629, expressed in 268 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
8161	5.2364	262
8162	0.0789	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	88.62	silver quality
cartilage tissue	UBERON:0002418	85.71	gold quality
islet of Langerhans	UBERON:0000006	82.12	gold quality
granulocyte	CL:0000094	79.34	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.87	silver quality
spleen	UBERON:0002106	72.62	gold quality
blood	UBERON:0000178	71.97	gold quality
lymph node	UBERON:0000029	71.67	gold quality
stromal cell of endometrium	CL:0002255	71.20	gold quality
vermiform appendix	UBERON:0001154	68.41	gold quality
endometrium epithelium	UBERON:0004811	68.29	silver quality
caecum	UBERON:0001153	63.94	gold quality
frontal pole	UBERON:0002795	63.74	gold quality
small intestine Peyer’s patch	UBERON:0003454	62.05	gold quality
middle frontal gyrus	UBERON:0002702	61.56	gold quality
paraflocculus	UBERON:0005351	61.14	gold quality
mucosa of urinary bladder	UBERON:0001259	59.82	gold quality
gall bladder	UBERON:0002110	59.76	gold quality
omental fat pad	UBERON:0010414	59.49	gold quality
peritoneum	UBERON:0002358	59.44	gold quality
adipose tissue of abdominal region	UBERON:0007808	58.50	gold quality
small intestine	UBERON:0002108	58.49	gold quality
gastrocnemius	UBERON:0001388	58.16	gold quality
tonsil	UBERON:0002372	58.13	gold quality
mucosa of transverse colon	UBERON:0004991	58.10	gold quality
tongue squamous epithelium	UBERON:0006919	57.99	gold quality
right lung	UBERON:0002167	56.89	gold quality
left uterine tube	UBERON:0001303	55.86	gold quality
smooth muscle tissue	UBERON:0001135	55.25	gold quality
muscle of leg	UBERON:0001383	54.47	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-81383	yes	1121.75
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, CEBPA, CEBPB, CEBPG, ESR1, ETS1, EZH2, GATA3, HAND2, JUN, PEG3, SP1, STAT6

miRNA regulators (miRDB)

47 targeting IL24, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-4487	99.96	64.58	1252
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-5003-3P	99.85	69.29	2517
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-6516-3P	99.65	68.57	1238
HSA-MIR-4328	99.57	71.06	4094
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-203A-3P	99.49	70.56	2806
HSA-MIR-3123	99.47	67.15	2693
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-6505-3P	99.34	67.39	1071
HSA-MIR-6719-3P	99.29	67.78	1387
HSA-MIR-2054	99.20	68.89	1699
HSA-MIR-6510-5P	99.14	66.59	1081
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-4758-3P	99.12	63.96	869
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-511-5P	98.97	70.94	2268
HSA-MIR-3926	98.95	69.26	1438

Literature-anchored findings (GeneRIF, showing 40)

• these results provide compelling evidence for IL-24 being the fourth member of IL-10 family of cytokines to which their specific receptors have been identified. (PMID:11706020)
• downregulation of expression in primary melanomas facilitates progression to invasive and metastatic stages (PMID:11844832)
• Because blood leukocytes can be stimulated to produce MDA-7/IL-24, as well as respond to MDA-7/IL-24 by expressing secondary cytokines, MDA-7/IL-24 has the expression profile and major functional attributes that justify its designation as an interleukin. (PMID:12055212)
• Inhibition of human lung cancer growth following adenovirus-mediated mda-7 gene expression in vivo. (PMID:12085234)
• examination of ligand/receptor interactions and in signal transduction that may lead to specificity and distinct biology (PMID:12351624)
• Review. mda-7 is a secreted protein with cytokine-like properties belonging to the IL-10 family. If delivered by an adenoviral vector, mda-7 induces selective apoptosis in cancer cells of diverse origin, while sparing their normal cellular counterparts. (PMID:12395925)
• study demonstrate that expression of the MDA-7 tumor suppressor can negatively regulate iNOS expression in malignant melanoma cell lines (PMID:12533668)
• Melanoma differentiation associated gene-7, mda-7/IL-24, selectively induces growth suppression, apoptosis and radiosensitization in malignant gliomas in a p53-independent manner. (PMID:12606943)
• Signaling leading to susceptibility to MDA-7 induced apoptosis might be tyrosine kinase independent and can thus be distinguished from its cytokine function related properties mediated by IL-20/IL-22 receptor complexes requiring JAK/STAT kinase activity. (PMID:12811827)
• in breast and lung tumor cells, MDA-7 protein expression modulates cell-cell adhesion and intracellular signaling via coordinate regulation of the beta-catenin and PI3K pathways (PMID:12907143)
• Ad-mda7 exhibits selectivity in apoptosis induction and growth suppression in an atypical smooth muscle cell line (PMID:12907144)
• Adenovirua-mediatd mda7 sensitizes NSCLC cells to ionizing radiation by suppressing the activity of NHEJ, a pathway essential for repair of radiation-induced DSBs. (PMID:15273727)
• mda-7s expression is linked to a non-metastatic phenotype (PMID:15304100)
• MDA-7/IL-24 has the ability to induce apoptosis in transformed cells, while having marginal growth suppressive effects on normal primary or immortalized cell lines. (PMID:15334067)
• MDA-7 synergizes with tumor necrosis factor (TNF) for NF-kappa B activation and for NF-kappa B-mediated gene expression and can suppress the apoptotic effects of TNF. (PMID:15383566)
• MDA-7 induces dose-dependent cell death in melanoma tumor cells (PMID:15564140)
• Analysis of signal transduction changes in pancreatic carcinoma cells infected with Ad.mda-7 in combination with a ROS-inducer indicate that cell death correlates with modulation of discrete cassettes of multiple signaling pathways (PMID:15580305)
• MDA-7/IL-24 status was a significant prognostic factor in lung adenocarcinoma, not in lung squamous cell carcinoma. (PMID:15709189)
• identification of a novel bystander mechanism of MDA-7 killing in pancreatic cancer that functions via IL-20 receptors (PMID:15851011)
• IL-24 is a member of IL-10 family of cytokines, and it signals through two hetorodimeric receptors, whose expression is also upregulated by ras oncogenes (PMID:16264231)
• discriminating antitumor activity of MDA-7/IL-24 by presenting an unparalleled opportunity to develop improved therapeutic versions of this cancer-specific apoptosis-inducing cytokine. (PMID:16912197)
• IL-19, IL-20 and IL-24 are distinct from classical ILs and constitute a separate subfamily of mediators within the IL-10 family (PMID:17083366)
• IL-24 glycosylation is not mandatory for inducing cell death or bystander activities in different cancer cells. (PMID:17178884)
• Establish MDA-7/IL-24 and GADD45alpha and GADD45gamma as critical mediators of apoptosis and growth arrest in response to NSAIDs in cancer cells. (PMID:17178890)
• extended haplotype analysis revealed an association of IL19/IL20 haplotype GACACCGGAA with a higher risk for palmoplantar pustulosis (PPP) and of IL20/IL24 haplotype CAAAC with a reduced risk for PPP (PMID:17263806)
• polymorphisms investigated are not associated with chronic periodontitis (PMID:17305874)
• injection of adenovirus GFP/IL-24 significantly suppressed in vivo hepatocellular carcinoma growth in athymic nude mice (PMID:17627414)
• MDA-7/IL-24 is ubiquitinated and degraded by the 26S proteasome (PMID:17828282)
• These findings confirm that mda-7/IL-24 is a potent multidrug resistance (MDR) reversal agent, preferentially causing apoptosis in P-gp-overexpressing MDR cells. (PMID:18025283)
• Both IL-20 and IL-24 showed correlations to CCL2/MCP-1 in plasma from rheumatoid arthritis and spondyloarthropathy patients. (PMID:18061474)
• MDA-7/IL-24 has a role in inducing growth suppression and apoptosis of hepatoma (PMID:18278464)
• GST-MDA-7 induces an endoplasmic reticulum stress response that is causal in the activation of multiple proapoptotic pathways. (PMID:18281515)
• Regulation of GST-MDA-7 toxicity in human glioblastoma cells by ERBB1, ERK1/2, PI3K, and JNK1-3 pathway signaling. (PMID:18281516)
• MDA-7/IL-24 plus radiation enhance survival in animals with intracranial primary human GBM tumors (PMID:18376144)
• MDA7/IL-24 is the key cytokine to trigger the up-regulation of class I interferons. (PMID:18511292)
• MDA-7/IL-24 protein induces stabilization of its own mRNA without activating its promoter. Furthermore, this posttranscriptional effect depends on de novo protein synthesis (PMID:18599461)
• IL-24 produced by maternal-fetal interface in human first trimester pregnancy may influence the invasion of trophoblasts and is involved in normal pregnancy. (PMID:18704311)
• vectors targeting the ER (Ad-ER-mda7) may be more effective in cancer gene therapy possibly through more effective induction or ER stress pathways (PMID:18723497)
• Adenovirus vector expressing mda-7 selectively kills hepatocellular carcinoma cell line Hep3B. (PMID:18842498)
• The addition of recombinant IL-24 to IL-2-activated chronic lymphocytic leukemia B cells results in increases of transcription, protein synthesis. and phosphorylation of p53. (PMID:18941194)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	il22	ENSDARG00000045673
mus_musculus	Il24	ENSMUSG00000026420
rattus_norvegicus	Il24	ENSRNOG00000004470

Paralogs (4): IL26 (ENSG00000111536), IL10 (ENSG00000136634), IL19 (ENSG00000142224), IL20 (ENSG00000162891)

Protein

Protein identifiers

Interleukin-24 — Q13007 (reviewed: Q13007)

Alternative names: Melanoma differentiation-associated gene 7 protein, Suppression of tumorigenicity 16 protein

All UniProt accessions (4): A0A7R8C2Y5, E7ER64, E7ETP6, Q13007

UniProt curated annotations — full annotation on UniProt →

Function. Multifunctional cytokine mainly produced by T-cells that plays a regulatory role in immune response, tissue homeostasis, host defense, and oncogenesis. Possesses antiviral functions and induces the type I interferon response during influenza infection. Signals through two receptor complexes IL20RA/IL20RB or IL20RB/IL22RA1. In turn, stimulates the JAK1-STAT3 and MAPK pathways and promotes the secretion of pro-inflammatory mediators including IL8 and MMP1. Intracellularly, maintains endoplasmic reticulum homeostasis by restricting the eIF2alpha-CHOP pathway-mediated stress signal. In addition, acts as a quality control mechanism for the ubiquitin proteasome system by alerting the cell to proteasome dysfunction through activation of PKR/EIF2AK2.

Subcellular location. Secreted.

Tissue specificity. Up-regulated in melanoma cells induced to terminally differentiate.

Post-translational modifications. Glycosylated. Ubiquitination at Lys-122 promotes proteasomal degradation.

Induction. Upon influenza virus infection.

Similarity. Belongs to the IL-10 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q13007-1	1	yes
Q13007-2	2
Q13007-3	3
Q13007-4	4, mda-7s

RefSeq proteins (4): NP_001172085, NP_001172086, NP_001172087, NP_006841* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009079	4_helix_cytokine-like_core	Homologous_superfamily
IPR020423	IL-10_CS	Conserved_site
IPR020443	IL-10/19/20/24/26	Family
IPR020444	IL-24	Family

UniProt features (26 total): helix 11, sequence variant 3, glycosylation site 3, splice variant 3, strand 2, signal peptide 1, chain 1, disulfide bond 1, cross-link 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6GG1	X-RAY DIFFRACTION	1.3
6DF3	X-RAY DIFFRACTION	2.15

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13007-F1	83.96	0.65

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): 122

Disulfide bonds (1): 59–106

Glycosylation sites (3): 85, 99, 126

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8854691	Interleukin-20 family signaling

MSigDB gene sets: 187 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_INTERLEUKIN_4, GOBP_RESPONSE_TO_PEPTIDE, GOBP_CELLULAR_RESPONSE_TO_LIPID, GOBP_CELLULAR_RESPONSE_TO_BIOTIC_STIMULUS, MODULE_64, GRAESSMANN_RESPONSE_TO_MC_AND_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, STOSSI_RESPONSE_TO_ESTRADIOL, NIKOLSKY_BREAST_CANCER_1Q32_AMPLICON, MODULE_75, KIM_RESPONSE_TO_TSA_AND_DECITABINE_UP

GO Biological Process (8): apoptotic process (GO:0006915), immune response (GO:0006955), positive regulation of cell population proliferation (GO:0008284), negative regulation of cell population proliferation (GO:0008285), negative regulation of cell migration (GO:0030336), cellular response to lipopolysaccharide (GO:0071222), cellular response to interleukin-4 (GO:0071353), signal transduction (GO:0007165)

GO Molecular Function (2): cytokine activity (GO:0005125), protein binding (GO:0005515)

GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Signaling by Interleukins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell population proliferation	2
regulation of cell population proliferation	2
programmed cell death	1
apoptotic signaling pathway	1
execution phase of apoptosis	1
immune system process	1
response to stimulus	1
positive regulation of cellular process	1
negative regulation of cellular process	1
cell migration	1
regulation of cell migration	1
negative regulation of cell motility	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
response to interleukin-4	1
cellular response to cytokine stimulus	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
receptor ligand activity	1
binding	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1204 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IL24	IL20RA	Q9UHF4	997
IL24	IL20RB	Q6UXL0	995
IL24	IL22RA1	Q8N6P7	966
IL24	IL22	Q9GZX6	839
IL24	IL10	P22301	838
IL24	IL26	Q9NPH9	824
IL24	IL10RB	Q08334	765
IL24	NOTCH2	Q04721	718
IL24	IL10RA	Q13651	689
IL24	STAT3	P40763	677
IL24	ST20	Q9HBF5	665
IL24	IL2	P01585	639
IL24	IL22RA2	Q969J5	611
IL24	IL5	P05113	605
IL24	CXCL3	P19876	598

IntAct

29 interactions, top by confidence:

A	B	Type	Score
IL24	RAD51	psi-mi:“MI:0915”(physical association)	0.510
CHEK2	IL24	psi-mi:“MI:0915”(physical association)	0.510
IL24	PARP1	psi-mi:“MI:0915”(physical association)	0.510
ATM	IL24	psi-mi:“MI:0915”(physical association)	0.510
CCR5	IL24	psi-mi:“MI:0915”(physical association)	0.370
IL24	RARG	psi-mi:“MI:0915”(physical association)	0.370
DCD	IL24	psi-mi:“MI:0915”(physical association)	0.370
IL24	AKT1	psi-mi:“MI:0915”(physical association)	0.370
IL24	APC	psi-mi:“MI:0915”(physical association)	0.370
IL24	BAG4	psi-mi:“MI:0915”(physical association)	0.370
CASP8	IL24	psi-mi:“MI:0915”(physical association)	0.370
IL24	ESR2	psi-mi:“MI:0915”(physical association)	0.370
IL24	FBXW7	psi-mi:“MI:0915”(physical association)	0.370
IL24	HMMR	psi-mi:“MI:0915”(physical association)	0.370
HRAS	IL24	psi-mi:“MI:0915”(physical association)	0.370
KRAS	IL24	psi-mi:“MI:0915”(physical association)	0.370
LSP1	IL24	psi-mi:“MI:0915”(physical association)	0.370
NOTCH2	IL24	psi-mi:“MI:0915”(physical association)	0.370
PALB2	IL24	psi-mi:“MI:0915”(physical association)	0.370
IL24	PIK3CA	psi-mi:“MI:0915”(physical association)	0.370
IL24	PTEN	psi-mi:“MI:0915”(physical association)	0.370
IL24	RB1CC1	psi-mi:“MI:0915”(physical association)	0.370
IL24	SMAD4	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (41): IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid), IL24 (Two-hybrid)

ESM2 similar proteins: A0A2R8QHQ6, A0A3Q1LRJ2, A0A8M9PDM1, A6QL48, B4ER10, E9Q8Q8, O02720, O46673, O70615, P01244, P01245, P01246, P01248, P06880, P0DJF3, P19795, P33711, P37886, P46404, P46407, P48411, P56437, Q13007, Q1HFN3, Q1XG29, Q29406, Q3KNT9, Q4KM46, Q62575, Q659Q8, Q6AYE5, Q6UXV1, Q6ZMJ4, Q71SY6, Q7YQB8, Q7YQD2, Q7YRR6, Q864S7, Q86UD1, Q8HYE5

Diamond homologs: Q13007, Q925S4, Q9JI24, Q9JKV9, Q9NYY1, Q9UHD0, Q8CJ70

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TFEB	“up-regulates quantity by expression”	IL24	“transcriptional regulation”

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 23 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
protein stabilization	5	14.5×	2e-03
DNA damage response	6	14.0×	5e-04
positive regulation of cell migration	5	13.4×	2e-03
positive regulation of apoptotic process	5	12.3×	2e-03
negative regulation of cell population proliferation	6	11.0×	1e-03
positive regulation of gene expression	5	8.4×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	19
Likely benign	3
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

878 predictions. Top by Δscore:

Variant	Effect	Δscore
1:206897612:AGAGG:A	donor_loss	1.0000
1:206897613:GAG:G	donor_gain	1.0000
1:206897613:GAGGT:G	donor_loss	1.0000
1:206897614:AGG:A	donor_loss	1.0000
1:206897616:G:C	donor_loss	1.0000
1:206900284:T:A	acceptor_gain	1.0000
1:206900288:T:TA	acceptor_gain	1.0000
1:206900292:A:AG	acceptor_gain	1.0000
1:206900293:A:G	acceptor_gain	1.0000
1:206902974:A:AG	acceptor_gain	1.0000
1:206902974:AGTT:A	acceptor_gain	1.0000
1:206902975:G:GG	acceptor_gain	1.0000
1:206902975:GTTG:G	acceptor_gain	1.0000
1:206897616:G:GG	donor_gain	0.9900
1:206897617:T:G	donor_loss	0.9900
1:206900294:G:GG	acceptor_gain	0.9900
1:206900294:GCAA:G	acceptor_gain	0.9900
1:206900297:A:G	acceptor_gain	0.9900
1:206901988:T:G	acceptor_gain	0.9900
1:206902972:TTAGT:T	acceptor_loss	0.9900
1:206902973:TA:T	acceptor_loss	0.9900
1:206902974:A:AC	acceptor_loss	0.9900
1:206902975:G:GT	acceptor_loss	0.9900
1:206902975:GTT:G	acceptor_gain	0.9900
1:206899316:GCA:G	acceptor_gain	0.9800
1:206902974:AGTTG:A	acceptor_gain	0.9800
1:206902975:GT:G	acceptor_gain	0.9800
1:206902975:GTTGG:G	acceptor_gain	0.9800
1:206899316:GC:G	acceptor_gain	0.9700
1:206900296:A:AG	acceptor_gain	0.9700

AlphaMissense

1350 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:206903002:A:C	K188N	0.981
1:206903002:A:T	K188N	0.981
1:206901533:T:C	F115L	0.980
1:206901535:C:A	F115L	0.980
1:206901535:C:G	F115L	0.980
1:206902064:T:C	F177L	0.972
1:206902066:C:A	F177L	0.972
1:206902066:C:G	F177L	0.972
1:206899492:T:C	F73L	0.969
1:206899494:C:A	F73L	0.969
1:206899494:C:G	F73L	0.969
1:206903013:A:T	E192V	0.962
1:206901534:T:C	F115S	0.959
1:206903045:T:C	F203L	0.958
1:206903047:C:A	F203L	0.958
1:206903047:C:G	F203L	0.958
1:206903001:A:T	K188I	0.957
1:206903035:G:C	W199C	0.956
1:206903035:G:T	W199C	0.956
1:206901551:T:C	F121L	0.949
1:206901552:T:C	F121S	0.949
1:206901553:C:A	F121L	0.949
1:206901553:C:G	F121L	0.949
1:206903003:G:C	A189P	0.949
1:206903033:T:A	W199R	0.949
1:206903033:T:C	W199R	0.949
1:206902043:T:C	F170L	0.940
1:206902045:T:A	F170L	0.940
1:206902045:T:G	F170L	0.940
1:206901549:T:A	V120D	0.937

dbSNP variants (sampled 300 via entrez): RS1001396694 (1:206903397 C>G,T), RS1001519273 (1:206897369 C>T), RS1001855060 (1:206904222 A>G), RS1002522050 (1:206895919 G>A,C), RS1002574457 (1:206895628 C>G,T), RS1003781009 (1:206899675 A>C,G), RS1003794855 (1:206900903 T>C), RS1003818050 (1:206899991 G>T), RS1004319832 (1:206900420 G>A,C,T), RS1005417522 (1:206904403 T>A), RS1005428653 (1:206904076 T>A), RS1005794193 (1:206897171 A>G), RS1006100007 (1:206895885 A>G), RS1006254353 (1:206902433 T>C), RS1006423399 (1:206902907 AT>A)

Disease associations

OMIM: gene MIM:604136 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST001725_40	Inflammatory bowel disease	7.000000e-42

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

170 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, decreases expression, increases expression, increases reaction, affects reaction (+2 more)	9
Tobacco Smoke Pollution	increases expression	7
Particulate Matter	increases reaction, increases abundance, affects cotreatment, decreases reaction, increases expression (+1 more)	6
Tetrachlorodibenzodioxin	increases expression, affects cotreatment, decreases expression, increases secretion, affects reaction	5
Silicon Dioxide	increases expression, increases reaction	4
Arsenic Trioxide	affects cotreatment, decreases expression, increases activity, increases phosphorylation	3
Benzo(a)pyrene	decreases methylation, decreases reaction, increases expression, increases reaction	3
Valproic Acid	affects expression, increases expression	3
Asbestos, Crocidolite	increases expression	3
Cadmium Chloride	decreases expression, increases expression, affects reaction	3
(+)-JQ1 compound	decreases expression	2
Resveratrol	affects cotreatment, decreases expression	2
Decitabine	affects expression, increases expression	2
Troglitazone	increases expression	2
Aerosols	increases expression	2
Smoke	affects binding, increases reaction, increases expression	2
Glupearl 19S	increases expression	1
perfluorotetradecanoic acid	increases expression	1
geldanamycin	affects binding, increases reaction, increases expression	1
4-oxoretinoic acid	decreases expression	1
oxybutynin	decreases expression	1
bisphenol A	decreases methylation	1
lead acetate	increases expression	1
pirprofen	increases expression	1
primycin	increases expression	1
titanium dioxide	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
nimesulide	increases expression	1
2-butenal	increases expression	1
cinnamaldehyde	affects reaction, increases expression, affects cotreatment, affects expression, affects response to substance	1

Clinical trials (associated diseases)

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