IL11

gene
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Also known as IL-11AGIF

Summary

IL11 (interleukin 11, HGNC:5966) is a protein-coding gene on chromosome 19q13.42, encoding Interleukin-11 (P20809). Cytokine that stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production.

The protein encoded by this gene is a member of the gp130 family of cytokines. These cytokines drive the assembly of multisubunit receptor complexes, all of which contain at least one molecule of the transmembrane signaling receptor IL6ST (gp130). This cytokine is shown to stimulate the T-cell-dependent development of immunoglobulin-producing B cells. It is also found to support the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.

Source: NCBI Gene 3589 — RefSeq curated summary.

At a glance

  • GWAS associations: 5
  • Clinical variants (ClinVar): 46 total
  • Druggable target: yes
  • MANE Select transcript: NM_000641

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:5966
Approved symbolIL11
Nameinterleukin 11
Location19q13.42
Locus typegene with protein product
StatusApproved
AliasesIL-11, AGIF
Ensembl geneENSG00000095752
Ensembl biotypeprotein_coding
OMIM147681
Entrez3589

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000264563, ENST00000585513, ENST00000587093, ENST00000590625

RefSeq mRNA: 2 — MANE Select: NM_000641 NM_000641, NM_001267718

CCDS: CCDS12923, CCDS59423

Canonical transcript exons

ENST00000264563 — 5 exons

ExonStartEnd
ENSE000006996605536821055368371
ENSE000008165175536876955368941
ENSE000011790945536438255366177
ENSE000034709785537030455370463
ENSE000035535955536848355368569

Expression profiles

Bgee: expression breadth ubiquitous, 152 present calls, max score 92.62.

FANTOM5 (CAGE): breadth broad, TPM avg 2.4388 / max 107.7400, expressed in 526 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter IDTPM avgSamples expressed
1827972.4388526

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
islet of LangerhansUBERON:000000692.62gold quality
cartilage tissueUBERON:000241892.59gold quality
stromal cell of endometriumCL:000225580.81gold quality
skeletal muscle tissue of rectus abdominisUBERON:000451180.42gold quality
metanephros cortexUBERON:001053375.51gold quality
right hemisphere of cerebellumUBERON:001489075.14gold quality
cerebellar hemisphereUBERON:000224574.48gold quality
cerebellar cortexUBERON:000212974.45gold quality
cerebellumUBERON:000203773.03gold quality
mucosa of urinary bladderUBERON:000125970.16gold quality
vena cavaUBERON:000408769.83gold quality
subthalamic nucleusUBERON:000190669.77gold quality
lower esophagus mucosaUBERON:003583468.98gold quality
inferior vagus X ganglionUBERON:000536368.85gold quality
dorsal plus ventral thalamusUBERON:000189768.79gold quality
medulla oblongataUBERON:000189668.69gold quality
ventral tegmental areaUBERON:000269168.58gold quality
lateral nuclear group of thalamusUBERON:000273668.51gold quality
inferior olivary complexUBERON:000212768.35gold quality
cardia of stomachUBERON:000116268.21gold quality
dorsal motor nucleus of vagus nerveUBERON:000287068.20gold quality
superior vestibular nucleusUBERON:000722768.15gold quality
skeletal muscle tissue of biceps brachiiUBERON:000450268.12gold quality
body of tongueUBERON:001187668.10gold quality
olfactory bulbUBERON:000226468.05gold quality
saphenous veinUBERON:000731868.04gold quality
nippleUBERON:000203067.96gold quality
pharyngeal mucosaUBERON:000035567.85gold quality
pericardiumUBERON:000240767.75gold quality
substantia nigra pars reticulataUBERON:000196667.62gold quality

Single-cell (SCXA)

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

ExperimentMarker?Max mean expression
E-ANND-3no1.44

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AP1, ATF2, FOS, FOSB, FOSL1, FOSL2, FOXL2, HIF1A, HMGA2, HOXA10, JUN, JUNB, JUND, NR3C1, RUNX2, SMAD1, STAT3, TXK

miRNA regulators (miRDB)

55 targeting IL11, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5692A100.0074.406850
HSA-MIR-4795-3P100.0074.624024
HSA-MIR-4533100.0069.482758
HSA-MIR-6870-5P99.9968.552115
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-4723-5P99.9768.702034
HSA-MIR-569899.9768.492029
HSA-MIR-7111-5P99.9768.482062
HSA-MIR-1468-3P99.9672.743797
HSA-MIR-6778-3P99.9667.292693
HSA-MIR-767-5P99.9570.85993
HSA-MIR-6845-3P99.9466.881439
HSA-MIR-368699.9070.532432
HSA-MIR-124-3P99.8973.743043
HSA-MIR-506-3P99.8973.553057
HSA-MIR-4799-5P99.8270.602663
HSA-MIR-3681-5P99.8266.88387
HSA-MIR-204-5P99.7971.622439
HSA-MIR-211-5P99.7971.652440
HSA-MIR-6752-3P99.7266.711587
HSA-MIR-4524A-3P99.7266.852406
HSA-MIR-4755-5P99.7170.342716
HSA-MIR-5006-3P99.7170.262728
HSA-MIR-6887-3P99.6667.831778
HSA-MIR-651-5P99.6468.491104
HSA-MIR-6849-5P99.6466.00352
HSA-MIR-182799.6368.573265
HSA-MIR-425-5P99.5967.67900
HSA-MIR-154-3P99.5070.05831
HSA-MIR-487A-3P99.5069.95840

Literature-anchored findings (GeneRIF, showing 40)

  • Interleukin-11 induces proliferation of human T-cells and its activity is associated with downregulation of p27(kip1). (PMID:11940481)
  • Administration of recombinant human IL11 after supralethal radiation exposure promotes survival in mice: interactive effect with thrombopoietin. (PMID:12005542)
  • IL-11 is involved in the endogenous cytokine response to sepsis or NEC in preterm neonates. (PMID:12032273)
  • Respiratory syncytial virus induces IL-11 generation in antigen presenting cells (PMID:12197884)
  • Dinucleotide repeat frequencies of the IL11.A1 allele and of IL11.A1 homozygous individuals is significantly increased among patients with ulcerative colitis. (PMID:12486609)
  • expression and function in human endometrium (PMID:12569176)
  • Recombinant human IL-11 induces from peripheral blood mononuclear cells the formation of osteoclastic cells, which are positive for tartrate-resistant acid phosphatase, vitronectin receptor and calcitonin receptor, and capable of lacunar resorption. (PMID:12584029)
  • Immunoreactive IL-11 & IL-11Ralpha were studied in human first trimester decidua & distinct spatial & temporal patterns were defined. IL-11 has a role during decidualization & placentation in primates. (PMID:12740032)
  • Upregulation of IL-11 mRNA by additive IL-1beta- and TGF-beta1, mediated by p38 MAP kinase-mediated mRNA stabilization. (PMID:12760902)
  • Data suggest that interleukin-6 activation of gp130 promoted cell division in fibroblasts from patients with idiopathic pulmonary fibrosis (IPF), while IL-11 was mitogenic in both normal and IPF cells. (PMID:12819039)
  • IL-11 exerts a cytoprotectve effect in a model of human T-cell mediated allograft rejection that is dependent on induction of survivin in graft endothelial cells. (PMID:14734714)
  • could have a significant role in the progression of gingivitis to periodontitis (PMID:15025215)
  • may participate in the pathogenesis of temporomandibular disorders and induce osseous changes in the condyle (PMID:15121272)
  • IL-11 produced by blastic cells from a patient with acute megakaryocytic leukemia enhanced expression of osteoprotegerin, causing the osteosclerosis observed in this patient. (PMID:15307108)
  • RANKL treatment induced a significant increase of IL-11 secretion by both bone marrow stromal & endothelial cells. (PMID:15377473)
  • production of IL-11 does not increase in response to thrombocytopenia in most children with SAA (PMID:15381181)
  • activation of three major signaling pathways and support a role for IL-11 in the regulation of both transcription and protein synthesis in fully differentiated adipocytes. (PMID:15389536)
  • HGF maintains the hematopoietic microenvironment through stimulating proliferation and adhesion to the extracellular matrix and promoting hematopoiesis through inducing constitutive production of IL-11, SDF-1 alpha, and SCF by stromal cells themselves (PMID:15504551)
  • LCH represents a cytokine-driven condition partially mediated by TNF, IL-11, and LIF. These three cytokines are all osteoclastogenic, suggesting a pathogenetic pathway for the osteolytic lesions in LCH. (PMID:15543003)
  • IL-11 expression is critically important during decidualization in the human endometrium (PMID:15613426)
  • in contrast to IL-6, IL-11 in plasma does not correlate with trauma severity (PMID:15614128)
  • Blocking IL-11 signaling reduced RLrelaxin and medoxyprogesterone or PGE(2)+P-induced decidualization. (PMID:15784719)
  • in human lung fibroblasts ET-1 exerts a profibrogenic action via an ET(A) receptor-dependent, MAPK-mediated induction of IL-11 release and cell proliferation (PMID:16149067)
  • High interleukin 11 is associated with breast cancer (PMID:16614887)
  • role for IL-11 via pSTAT3 and SOCS3 in initiating and progressing decidualization (PMID:16709613)
  • thrombocytopenia in dengue disease is associated with changes in the serum levels of thrombopoietin, but not interleukin-11 (PMID:16759877)
  • IL-11/IL-11R pathway plays an important role in the progression of colorectal adenocarcinoma. (PMID:16964382)
  • There is no receptivity defect with regard to LIF and IL-11 secretions by eutopic endometrium in infertile women with endometriosis. (PMID:17000646)
  • Increased IL-11 in premature senescence of fetal lung fibroblasts induced by both tert-butylhydroperoxide and ethanol. (PMID:17295091)
  • Role of interleukin-11 to prevent chemotherapy-induced thrombocytopenia. (PMID:17325843)
  • The objectives of this study were to clarify the role of IL-11 and IL-11Ralpha in human gastric carcinoma. (PMID:17332920)
  • An important role for IL-11 in placentation. (PMID:17702845)
  • dysregulated production of IL-11 by polycythemia vera (PV) T cells, contributes to the in vitro formation of erythroid colonies in the absence of exogenous cytokines by PV CD34+ cells and likely plays a role in sustaining hematopoiesis in PV (PMID:17713553)
  • IL-11, but not IL-6 levels are increased in AD and FTLD, and the highest peaks were observed in patients with a less severe degree of cognitive deterioration, therefore suggesting a role of this cytokine in early phases of neurodegeneration. (PMID:18204920)
  • levels are significantly decreased in gingival crevicular fluid from sites with periodontitis compared with gingivitis and healthy sites (PMID:18433382)
  • activation of protein kinase A elicits an immediate response through induction of genes such as ID2 and FosB, followed by sustained secretion of bone-related cytokines such as BMP-2, IGF-1, and IL-11 (PMID:18490653)
  • binding site of il-11 to IL-11R alpha is characterized (PMID:18941632)
  • IL11 inhibits human extravillous trophoblast invasion via STAT3, indicating a likely role for IL11 in the decidual restraint of EVT invasion during normal pregnancy. (PMID:18987331)
  • Increased gastric IL-11 alters expression of proliferative and cytoprotective genes and promotes pretumorigenic cellular changes (PMID:19121317)
  • IL-11 and LIF regulated endometrial epithelial cell adhesion, suggesting that targeting IL-11 and LIF may be useful in regulating fertility by either enhancing or blocking implantation. (PMID:19213836)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
danio_rerioil11aENSDARG00000037859
danio_rerioil11bENSDARG00000058557
mus_musculusIl11ENSMUSG00000004371
rattus_norvegicusIl11ENSRNOG00000017386

Protein

Protein identifiers

Interleukin-11P20809 (reviewed: P20809)

Alternative names: Adipogenesis inhibitory factor

All UniProt accessions (3): P20809, A8K3F7, K7ESD5

UniProt curated annotations — full annotation on UniProt →

Function. Cytokine that stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production. Also promotes the proliferation of hepatocytes in response to liver damage. Binding to its receptor formed by IL6ST and IL11RA activates a signaling cascade that promotes cell proliferation. Signaling leads to the activation of intracellular protein kinases and the phosphorylation of STAT3. The interaction with the membrane-bound IL11RA and IL6ST stimulates ‘classic signaling’, whereas the binding of IL11 and soluble IL11RA to IL6ST stimulates ’trans-signaling’.

Subunit / interactions. Interacts with IL11RA to associate with IL6ST, giving rise to a multimeric signaling complex.

Subcellular location. Secreted.

Similarity. Belongs to the IL-6 superfamily.

Isoforms (2)

UniProt IDNamesCanonical?
P20809-11yes
P20809-22

RefSeq proteins (2): NP_000632, NP_001254647 (=MANE)

Domains & families (InterPro)

IDNameType
IPR0090794_helix_cytokine-like_coreHomologous_superfamily
IPR020412IL-11_mmlFamily
IPR020438IL-11Family

Pfam: PF07400

UniProt features (19 total): helix 8, mutagenesis site 3, sequence variant 2, signal peptide 1, chain 1, sequence conflict 1, region of interest 1, site 1, splice variant 1

Structure

Experimental structures (PDB)

8 structures.

PDBMethodResolution (Å)
8DPVX-RAY DIFFRACTION1.48
6O4OX-RAY DIFFRACTION1.62
8DPWX-RAY DIFFRACTION1.8
4MHLX-RAY DIFFRACTION2.09
8QY4ELECTRON MICROSCOPY3.06
8DPSELECTRON MICROSCOPY3.47
8DPUX-RAY DIFFRACTION3.78
8DPTELECTRON MICROSCOPY4

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-P20809-F183.460.48

Functional residue map

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

Catalytic / active sites (1): 168 (important for interaction with il6st and for the stimulation of cell proliferation)

Mutagenesis-validated functional residues (3):

PositionPhenotype
182increases affinity for il11ra and stimulation of cell proliferation.
186strongly increases affinity for il11ra and stimulation of cell proliferation.
186increases affinity for il11ra and stimulation of cell proliferation.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

IDPathway
R-HSA-6788467IL-6-type cytokine receptor ligand interactions

MSigDB gene sets: 265 (showing top): GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_MYELOID_CELL_DIFFERENTIATION, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_DN, BROWNE_HCMV_INFECTION_4HR_UP, MODULE_92, AP1_01, GOBP_REGULATION_OF_PROTEIN_BINDING, BENPORATH_ES_WITH_H3K27ME3, MCLACHLAN_DENTAL_CARIES_UP, GOBP_REGULATION_OF_PHOSPHORYLATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_RESPONSE_TO_PEPTIDE, GOBP_B_CELL_ACTIVATION, MODULE_64, GOBP_PEPTIDYL_SERINE_MODIFICATION

GO Biological Process (12): cell population proliferation (GO:0008283), positive regulation of cell population proliferation (GO:0008284), B cell differentiation (GO:0030183), megakaryocyte differentiation (GO:0030219), positive regulation of peptidyl-serine phosphorylation (GO:0033138), interleukin-11-mediated signaling pathway (GO:0038154), positive regulation of MAPK cascade (GO:0043410), fat cell differentiation (GO:0045444), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of hormone secretion (GO:0046888), positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731), signal transduction (GO:0007165)

GO Molecular Function (4): cytokine activity (GO:0005125), interleukin-11 receptor binding (GO:0005142), growth factor activity (GO:0008083), 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:

CategoryPathways
Interleukin-6 family signaling1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
cellular process2
positive regulation of protein phosphorylation2
receptor ligand activity2
cellular anatomical structure2
cell population proliferation1
regulation of cell population proliferation1
positive regulation of cellular process1
lymphocyte differentiation1
B cell activation1
myeloid cell differentiation1
peptidyl-serine phosphorylation1
regulation of peptidyl-serine phosphorylation1
cytokine-mediated signaling pathway1
MAPK cascade1
regulation of MAPK cascade1
positive regulation of intracellular signal transduction1
cell differentiation1
regulation of transcription by RNA polymerase II1
transcription by RNA polymerase II1
positive regulation of DNA-templated transcription1
negative regulation of cell communication1
negative regulation of signaling1
hormone secretion1
regulation of hormone secretion1
negative regulation of secretion by cell1
peptidyl-tyrosine phosphorylation1
regulation of peptidyl-tyrosine phosphorylation1
cell communication1
signaling1
regulation of cellular process1
cellular response to stimulus1
cytokine receptor binding1
growth factor receptor binding1
binding1
intracellular anatomical structure1

Protein interactions and networks

STRING

2016 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
IL11IL11RAQ14626998
IL11IL6RP08887983
IL11IL6STP40189972
IL11IL6P05231957
IL11OSMP13725934
IL11CNTFP26441927
IL11LIFP15018918
IL11CTF1Q16619846
IL11OSMRQ99650845
IL11LIFRP42702834
IL11CNTFRP26992829
IL11IL3P08700813
IL11CXCL8P10145807
IL11IL1AP01583806
IL11IL10P22301789

IntAct

15 interactions, top by confidence:

ABTypeScore
IL11MAGEA11psi-mi:“MI:0915”(physical association)0.670
MAGEA11IL11psi-mi:“MI:0915”(physical association)0.560
IL11S100Ppsi-mi:“MI:0407”(direct interaction)0.560
IL11psi-mi:“MI:0407”(direct interaction)0.560
IL11UBQLN2psi-mi:“MI:0915”(physical association)0.560
IL11IL11RApsi-mi:“MI:0407”(direct interaction)0.440
IL11MAGEA11psi-mi:“MI:0915”(physical association)0.000
IL11UBQLN2psi-mi:“MI:0915”(physical association)0.000

BioGRID (18): MAGEA11 (Two-hybrid), MAGEA11 (Two-hybrid), IL11 (Affinity Capture-RNA), IL11 (Co-localization), IL11 (Co-localization), MAGEA11 (Two-hybrid), UBQLN2 (Two-hybrid), S100P (Reconstituted Complex), S100A1 (Reconstituted Complex), S100B (Reconstituted Complex), S100A6 (Reconstituted Complex), NCS1 (Reconstituted Complex), GUCA1A (Reconstituted Complex), GUCA1B (Reconstituted Complex), CALM1 (Reconstituted Complex)

ESM2 similar proteins: A2A9Q0, A2VDH3, B0BNK7, C9JI98, D2HFT7, D4A2Q0, D4ABX8, E7ERA6, E9Q7T7, F2Z333, O94819, P0C6S8, P0DKB5, P13224, P20809, P56400, Q04785, Q17QZ8, Q1RMS4, Q2I0M4, Q32NY4, Q50LG9, Q5VT99, Q684M3, Q6GQU6, Q6NUI6, Q6PJG9, Q6UKI2, Q6UX72, Q6ZMC9, Q7M6Z0, Q7Z736, Q80WD1, Q80XU8, Q86UN3, Q8BHA1, Q8BLY3, Q8BQB4, Q8IZ52, Q8NE01

Diamond homologs: P20808, P20809, P47873, Q99MF5

SIGNOR signaling

4 interactions.

AEffectBMechanism
IL11“up-regulates activity”IL6STbinding
“Activated PSC”up-regulatesIL11
IL11up-regulatesIL6STbinding
IL11up-regulatesIL11RAbinding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance41
Likely benign2
Benign1

Top pathogenic / likely-pathogenic (0)

SpliceAI

605 predictions. Top by Δscore:

VariantEffectΔscore
19:55368205:CATA:Cdonor_loss1.0000
19:55368206:ATAC:Adonor_loss1.0000
19:55368207:TACCA:Tdonor_loss1.0000
19:55368208:A:ACdonor_gain1.0000
19:55368209:C:CCdonor_gain1.0000
19:55368209:C:CTdonor_loss1.0000
19:55368368:GGAG:Gacceptor_gain1.0000
19:55368370:AG:Aacceptor_gain1.0000
19:55368372:C:CCacceptor_gain1.0000
19:55368477:CCTTA:Cdonor_loss1.0000
19:55368478:CTTA:Cdonor_loss1.0000
19:55368479:TTACC:Tdonor_loss1.0000
19:55368481:A:ATdonor_loss1.0000
19:55368565:TCCCT:Tacceptor_gain1.0000
19:55368566:CCCT:Cacceptor_gain1.0000
19:55368566:CCCTC:Cacceptor_gain1.0000
19:55368567:CCTC:Cacceptor_gain1.0000
19:55368568:CT:Cacceptor_gain1.0000
19:55368570:C:CCacceptor_gain1.0000
19:55368570:CTGGC:Cacceptor_loss1.0000
19:55368765:CTA:Cdonor_loss1.0000
19:55368768:CCAG:Cdonor_gain1.0000
19:55370302:A:ACdonor_gain1.0000
19:55370303:C:CCdonor_gain1.0000
19:55366174:ACATC:Aacceptor_loss0.9900
19:55366175:CAT:Cacceptor_gain0.9900
19:55366177:TCTGT:Tacceptor_loss0.9900
19:55366178:C:CCacceptor_gain0.9900
19:55366178:C:CGacceptor_loss0.9900
19:55366179:T:Aacceptor_loss0.9900

AlphaMissense

1206 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
19:55366038:C:AR190M0.996
19:55366045:C:GA188P0.992
19:55366046:C:AW187C0.992
19:55366046:C:GW187C0.992
19:55368337:A:GL101P0.992
19:55366048:A:GW187R0.991
19:55366048:A:TW187R0.991
19:55366037:C:AR190S0.990
19:55366037:C:GR190S0.990
19:55368311:A:GW110R0.990
19:55368311:A:TW110R0.990
19:55366036:C:GG191R0.989
19:55366036:C:TG191R0.989
19:55366038:C:GR190T0.988
19:55366086:G:TA174D0.988
19:55368307:A:GL111P0.988
19:55368309:C:AW110C0.988
19:55368309:C:GW110C0.988
19:55366032:A:GL192P0.987
19:55366077:A:TI177N0.987
19:55368523:G:TP76H0.987
19:55368803:A:GL49P0.987
19:55366050:T:AD186V0.986
19:55368558:G:CF64L0.986
19:55368558:G:TF64L0.986
19:55368560:A:GF64L0.986
19:55368803:A:TL49H0.986
19:55366044:G:TA188D0.985
19:55366051:C:GD186H0.984
19:55366065:A:GL181P0.984

dbSNP variants (sampled 300 via entrez): RS1000277349 (19:55372067 C>T), RS1000519792 (19:55369100 G>A), RS1000627847 (19:55371707 C>T), RS1001385968 (19:55364029 C>G), RS1001437778 (19:55369337 A>C,T), RS1001667459 (19:55364295 C>A,T), RS1001682416 (19:55369324 C>A,T), RS1001895217 (19:55363949 G>A), RS1002394330 (19:55368042 G>A), RS1003164805 (19:55365117 ATCACCTGAGG>A), RS1003529616 (19:55370783 G>T), RS1003580518 (19:55371045 C>T), RS1004092841 (19:55365223 A>C), RS1004744088 (19:55371415 G>A), RS1005220676 (19:55370506 C>G,T)

Disease associations

OMIM: gene MIM:147681 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

StudyTraitp-value
GCST000643_1Response to antidepressants3.000000e-06
GCST006926_11Osteoarthritis (hip)2.000000e-11
GCST90000025_574Appendicular lean mass5.000000e-35
GCST90000026_28Appendicular lean mass8.000000e-18
GCST90000027_2Appendicular lean mass7.000000e-19

EFO canonical traits (1, from GWAS)

EFO IDTrait name
EFO:0004980appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6196073 (SINGLE PROTEIN)

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

PharmGKB clinical annotations

1 annotations.

VariantTypeLevelDrugsPhenotypes
rs1126757Efficacy3escitalopramDepression

PharmGKB variants

1 variants.

VariantGenesLevelScore#Clin annotsDrugs
rs1126757IL1131.501escitalopram

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChemblTypeValueUnitMolecule
6.85Kd140nMCHEMBL6162758
5.58Kd2600nMCHEMBL6160522

CTD chemical–gene interactions

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

ChemicalActions (top 5)PubMed papers
Benzo(a)pyreneincreases secretion, affects methylation, increases expression6
Tetrachlorodibenzodioxinaffects cotreatment, increases expression, decreases expression4
Estradioldecreases secretion, increases expression, increases reaction, increases secretion, affects expression (+1 more)3
Cyclosporineincreases expression3
tert-Butylhydroperoxideaffects expression, increases expression3
sodium arseniteincreases expression2
potassium chromate(VI)decreases expression, affects cotreatment, increases expression2
entinostatincreases expression, affects cotreatment2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamidedecreases reaction, increases secretion, affects cotreatment, increases expression2
(+)-JQ1 compoundincreases expression2
Air Pollutantsincreases expression, increases abundance2
Ethanoldecreases expression, increases expression2
Cisplatindecreases expression, increases reaction, increases expression2
Folic Acidaffects expression, affects response to substance, affects cotreatment, increases expression2
Formaldehydedecreases reaction, increases expression, increases secretion, decreases expression2
Hydrogen Peroxideaffects expression, increases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Silverincreases expression2
Dronabinoldecreases expression2
Triclosandecreases reaction, increases expression2
Valproic Acidincreases expression, increases methylation2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxidedecreases expression, increases expression2
Cadmium Chlorideincreases expression2
Particulate Matterincreases expression, affects expression, increases reaction, increases abundance2
aristolochic acid Iincreases expression1
Glupearl 19Sincreases expression1
aminomethylphosphonic acid (AMPA)increases expression1
methylmercuric chlorideincreases expression1
lasiocarpineincreases expression1
triphenyl phosphateincreases abundance, increases expression1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay IDTypeDescriptionSource paper
CHEMBL6115567BindingBinding affinity to CAP chip-immobilized IL-11 (unknown origin) assessed as dissociation constant by SPR analysisDe novo discovery of cyclic peptide inhibitors of IL-11 signaling. — Bioorg Med Chem

Cellosaurus cell lines

3 cell lines: 2 cancer cell line, 1 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D7RZUbigene A-549 IL11 KOCancer cell lineMale
CVCL_D9GYUbigene HEK293 IL11 KOTransformed cell lineFemale
CVCL_E0EVUbigene HeLa IL11 KOCancer cell lineFemale

Clinical trials (associated diseases)

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

  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): osteoarthritis, hip