IL11

interleukin 11, the group of Interleukins|Interleukin 6 type cytokine family

Basic information

Region (hg38): 19:55364381-55370463

Links

ENSG00000095752 ∙ NCBI:3589 ∙ OMIM:147681 ∙ HGNC:5966 ∙ Uniprot:P20809 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• craniosynostosis and dental anomalies (Limited), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the IL11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the IL11 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			22	2		24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	2	1

Variants in IL11

This is a list of pathogenic ClinVar variants found in the IL11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-55366014-C-T		not specified	Uncertain significance (Jan 08, 2024)
19-55366015-G-A		not specified	Uncertain significance (Feb 17, 2022)
19-55366042-C-T		not specified	Uncertain significance (Feb 06, 2024)
19-55366059-A-G		not specified	Uncertain significance (Dec 14, 2022)
19-55366068-C-G		not specified	Uncertain significance (Sep 16, 2021)
19-55366069-C-T		not specified	Uncertain significance (Apr 17, 2023)
19-55366071-C-T		not specified	Uncertain significance (Jul 15, 2021)
19-55366073-C-A			Benign (Dec 31, 2019)
19-55366099-C-A		not specified	Uncertain significance (May 18, 2022)
19-55366120-G-A		not specified	Uncertain significance (Oct 12, 2021)
19-55366142-G-T		not specified	Uncertain significance (May 01, 2024)
19-55366150-G-A		not specified	Uncertain significance (May 18, 2022)
19-55368224-G-C		not specified	Uncertain significance (Apr 18, 2023)
19-55368226-C-T		not specified	Uncertain significance (Oct 22, 2021)
19-55368227-G-A		not specified	Uncertain significance (Dec 28, 2023)
19-55368237-G-T		not specified	Uncertain significance (Aug 08, 2023)
19-55368277-G-A		not specified	Uncertain significance (Apr 04, 2024)
19-55368301-C-T		not specified	Uncertain significance (Dec 19, 2023)
19-55368319-T-A		not specified	Uncertain significance (Jul 26, 2021)
19-55368322-C-T		not specified	Uncertain significance (Jun 09, 2022)
19-55368341-C-G		not specified	Uncertain significance (Apr 10, 2023)
19-55368347-G-C		not specified	Uncertain significance (Jan 30, 2024)
19-55368545-C-A		not specified	Uncertain significance (Apr 07, 2022)
19-55368855-A-C		not specified	Uncertain significance (Jun 11, 2021)
19-55368864-G-C		not specified	Uncertain significance (Dec 22, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
IL11	protein_coding	protein_coding	ENST00000264563	5	6075

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000318	0.601	124007	0	8	124015	0.0000323

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.488	124	110	1.13	0.00000707	1172
Missense in Polyphen		47	42.959	1.0941		424
Synonymous	0.710	46	52.5	0.875	0.00000309	505
Loss of Function	0.607	6	7.83	0.766	4.98e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000323	0.0000323
Ashkenazi Jewish	0.000105	0.000100
East Asian	0.000167	0.000164
Finnish	0.000101	0.0000955
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.000167	0.000164
South Asian	0.0000344	0.0000331
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytokine that stimulates the proliferation of hematopoietic stem cells and megakaryocyte progenitor cells and induces megakaryocyte maturation resulting in increased platelet production (PubMed:2145578). Also promotes the proliferation of hepatocytes in response to liver damage. Binding to its receptor formed by IL6ST and either IL11RA1 or IL11RA2 activates a signaling cascade that promotes cell proliferation (PubMed:12919066). Signaling leads to the activation of intracellular protein kinases and the phosphorylation of STAT3. {ECO:0000250|UniProtKB:P47873, ECO:0000269|PubMed:12919066, ECO:0000269|PubMed:2145578}.
• Pathway: Jak-STAT signaling pathway - Homo sapiens (human);Rheumatoid arthritis - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Cytokine-cytokine receptor interaction - Homo sapiens (human);JAK-STAT-Core;Interleukin-11 Signaling Pathway;Differentiation Pathway;Glucocorticoid Receptor Pathway;Nuclear Receptors Meta-Pathway;Cytokines and Inflammatory Response;Signaling by Interleukins;IL-6-type cytokine receptor ligand interactions;Cytokine Signaling in Immune system;JAK STAT MolecularVariation 1;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Immune System;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;JAK STAT pathway and regulation;IL11;GPCR signaling-G alpha i;Interleukin-6 family signaling (Consensus)

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.494
• ghis: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.946

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Il11

Gene ontology

• Biological process: positive regulation of cell population proliferation;regulation of signaling receptor activity;cytokine-mediated signaling pathway;B cell differentiation;megakaryocyte differentiation;positive regulation of peptidyl-serine phosphorylation;positive regulation of MAPK cascade;fat cell differentiation;positive regulation of transcription by RNA polymerase II;negative regulation of hormone secretion;positive regulation of peptidyl-tyrosine phosphorylation;regulation of complement-dependent cytotoxicity;negative regulation of endothelial cell apoptotic process
• Cellular component: extracellular region;extracellular space;cytoplasm
• Molecular function: cytokine activity;interleukin-11 receptor binding;protein binding;growth factor activity