Information on IL10
Basic details
Alt. symbols: CSIF | TGIF | IL10A | IL-10
Approved name: interleukin 10
Alt. names: cytokine synthesis inhibitory factor, T-cell growth inhibitory factor
Location: 1q32.1: 206767602 - 206774541 (-)
Gene type: protein_coding, 7 transcripts.
Scores: LoFtool: 0.538000 | pLI: 0.02916223 | LOEUF: 1.039
Normal function
IL-10 is a potent anti-inflammatory and immunosuppressive cytokine that dampens inflammatory responses in the gastrointestinal tract by inhibiting TNF and IL-12 signaling, so defects in this pathway can lead to unchecked gut inflammation. It acts predominantly on hematopoietic and immune cells via a heterotetrameric complex composed of two IL-10R1 and two IL-10R2 chains, with the latter subunit also mediating signals via IL-22, IL-26, and interferon-lambda.
Dysfunction and disease
Biallelic LOF mutations in genes encoding either IL-10 (IL10) or its receptors (IL10RA for IL-10R1 and IL10RB for IL-10R2) have been associated with autosomal recessive forms of early or very early onset inflammatory bowel disease (V/EO-IBD) [OMIM: 612567, 613148]. In addition to severe and progressive colitis presenting as bloody diarrhea often within the first 3 months of life, patients also have failure to thrive, recurrent fevers and infections, abscesses and perianal fistula formation, oral aphthous lesions, folliculitis, and arthritis (PMID: 20934598, 22549091). Immunophenotyping shows grossly normal lymphocyte numbers and T cell proliferative responses, along with normal specific antibody responses to vaccinations but elevated IgG, IgA, and IgM levels in some patients. In patients with IL10 deficiency, circulating IL-10 levels are expectedly low to absent, but in patients with deficiencies in the receptor subunits, serum IL-10 levels may be normal or elevated (PMID: 19890111, 21519361, 22476154). Because patients with these conditions often have severe, treatment-refractory IBD, early consideration should be given to HSCT (PMID: 23158016). [Load More]
[Reviewed by Xiao P. Peng on 2022-06-21 17:31:28]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
0845 |
Graft vs. host disease, protection against | AD |
614395 |
0 (0 fams) | |
| IL10D |
Il-10 deficiency | AR |
Loss of Function | - | 0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of IL10
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 202 | ENST00000423557.1 | 1 | CCDS1467 | Select | protein_coding | 5 | Yes | 1630 | NM_000572 |
| 203 | ENST00000471071.2 | protein_coding | 3 | No | 393 | NM_001382624 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| R124Q |
EX3 | 430 | c.371G>A | p.Arg124Gln | missense_variant | Uncertain significance | 1 |
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in IL10
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 776 |
2021 | Gain-of-function variants in SYK cause immune dysregulation ... | Nat. Genet. | 33782605 |
1 |