IL27
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Also known as IL-27p28IL27p28IL-27AIL27AMGC71873
Summary
IL27 (interleukin 27, HGNC:19157) is a protein-coding gene on chromosome 16p12.1-p11.2, encoding Interleukin-27 subunit alpha (Q8NEV9). Associates with EBI3 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity.
The protein encoded by this gene is one of the subunits of a heterodimeric cytokine complex. This protein is related to interleukin 12A (IL12A). It interacts with Epstein-Barr virus induced gene 3 (EBI3), a protein similar to interleukin 12B (IL12B), and forms a complex that has been shown to drive rapid expansion of naive but not memory CD4(+) T cells. The complex is also found to synergize strongly with interleukin 12 to trigger interferon gamma (IFNG) production of naive CD4(+) T cells. The biological effects of this cytokine are mediated by the class I cytokine receptor (WSX1/TCRR).
Source: NCBI Gene 246778 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 42 total — 1 pathogenic
- MANE Select transcript:
NM_145659
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19157 |
| Approved symbol | IL27 |
| Name | interleukin 27 |
| Location | 16p12.1-p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873 |
| Ensembl gene | ENSG00000197272 |
| Ensembl biotype | protein_coding |
| OMIM | 608273 |
| Entrez | 246778 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000356897, ENST00000568075
RefSeq mRNA: 1 — MANE Select: NM_145659
NM_145659
CCDS: CCDS10633
Canonical transcript exons
ENST00000356897 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001404109 | 28501976 | 28502134 |
| ENSE00001417879 | 28499362 | 28499920 |
| ENSE00001424649 | 28506781 | 28506834 |
| ENSE00003473194 | 28503695 | 28503793 |
| ENSE00003619615 | 28503878 | 28504050 |
Expression profiles
Bgee: expression breadth ubiquitous, 129 present calls, max score 87.87.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.9631 / max 309.5546, expressed in 106 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 156885 | 2.7743 | 106 |
| 207822 | 0.1889 | 53 |
Top tissues by expression
232 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 87.87 | gold quality |
| monocyte | CL:0000576 | 74.95 | gold quality |
| leukocyte | CL:0000738 | 74.43 | gold quality |
| liver | UBERON:0002107 | 71.89 | gold quality |
| granulocyte | CL:0000094 | 70.61 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 66.89 | gold quality |
| apex of heart | UBERON:0002098 | 66.89 | gold quality |
| blood | UBERON:0000178 | 64.99 | gold quality |
| spleen | UBERON:0002106 | 63.47 | gold quality |
| vermiform appendix | UBERON:0001154 | 59.23 | gold quality |
| caecum | UBERON:0001153 | 55.05 | gold quality |
| bone marrow cell | CL:0002092 | 54.81 | gold quality |
| buccal mucosa cell | CL:0002336 | 54.28 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 52.95 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 52.84 | gold quality |
| upper lobe of lung | UBERON:0008948 | 51.36 | gold quality |
| lymph node | UBERON:0000029 | 49.55 | gold quality |
| sural nerve | UBERON:0015488 | 49.49 | gold quality |
| bone marrow | UBERON:0002371 | 48.64 | gold quality |
| left adrenal gland | UBERON:0001234 | 48.17 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 47.43 | gold quality |
| right lung | UBERON:0002167 | 47.42 | gold quality |
| placenta | UBERON:0001987 | 47.30 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 46.86 | gold quality |
| adrenal cortex | UBERON:0001235 | 46.49 | gold quality |
| right adrenal gland | UBERON:0001233 | 46.36 | gold quality |
| lung | UBERON:0002048 | 45.77 | gold quality |
| adrenal gland | UBERON:0002369 | 45.34 | gold quality |
| omental fat pad | UBERON:0010414 | 45.05 | gold quality |
| peritoneum | UBERON:0002358 | 45.04 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.11 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
19 targeting IL27, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6798-5P | 100.00 | 65.77 | 699 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-520F-3P | 99.82 | 71.32 | 1216 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-148A-5P | 99.30 | 68.27 | 1141 |
| HSA-MIR-3168 | 99.08 | 67.75 | 1384 |
| HSA-MIR-328-5P | 99.08 | 64.65 | 1000 |
| HSA-MIR-935 | 98.82 | 69.36 | 1072 |
| HSA-MIR-6846-5P | 98.81 | 65.86 | 1121 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-4751 | 98.80 | 64.95 | 525 |
| HSA-MIR-6867-3P | 98.12 | 66.07 | 1305 |
| HSA-MIR-4287 | 97.55 | 67.24 | 1247 |
| HSA-MIR-4685-3P | 97.55 | 67.35 | 1255 |
| HSA-MIR-874-5P | 96.93 | 63.92 | 1014 |
| HSA-MIR-4509 | 96.19 | 65.80 | 900 |
| HSA-MIR-4693-3P | 95.23 | 65.92 | 735 |
Literature-anchored findings (GeneRIF, showing 40)
- an early product of activated antigen-presenting cells; drives rapid clonal expansion of naive but not memory CD4(+) T cells (PMID:12121660)
- IL-27 regulates IL-12 responsiveness of naive CD4+ T cells through Stat1-dependent and -independent mechanisms (PMID:14657353)
- IL-27 triggers STAT activation and gene transcription of a subset of inflammatory cytokines in primary human mast cells and in human monocytes. (PMID:14764690)
- EBI3 may play a role, independently from its association to p28, in regulating anti-viral or anti-tumoral immune responses (PMID:15793300)
- The B cell response to IL-27 is modulated during B cell differentiation and varies depending on the mode of B cell activation. (PMID:16670296)
- IL-23 and IL-17 have roles in inflammation [commentary] (PMID:16670765)
- IL-27 possesses potent antiangiogenic activity, which plays an important role in its antitumor and antimetastatic activities. (PMID:16751375)
- IL-27 was found to be a potent inhibitor of HIV-1 replication in peripheral blood mononuclear cells, CD4+ T cells, and macrophages (PMID:17068156)
- Our results strongly suggest that the g.-964A > G polymorphism of IL-27p28 is most likely associated with susceptibility to asthma. (PMID:17318299)
- IL-27p28 subunit was induced by IFN-beta alone or during LPS-induced maturation of dendritic cells in a type I IFN-dependent manner through IFN regulatory factor-1 activation. (PMID:17985330)
- findings indicate that the restricted Th1 responses in newborns owing to deficient IL-12 production may be compensated for, in part, by enhanced IL-27 secretion (PMID:18167155)
- Our data suggest that the pro-inflammatory role of IL-27 is mediated in part through increased expression of key molecules involved in the class II and class I MHC pathways. (PMID:18178151)
- this first demonstration that both MHC II and I expression are increased in endothelial cells after IL-27 stimulation suggests that IL-27 may be important in conferring immune function on vascular endothelium (PMID:18191724)
- IL-27 activates monocytes via STAT1 and suppresses IL-10 production but the inflammatory functions of IL-27 are abrogated by TLRs and p38 (PMID:18424756)
- IL-27 has an antiproliferative activity on melanomas through WSX-1/STAT1 signaling. (PMID:18453571)
- IL-27-mediated antitumour effects produced in a mature T cell-defective condition were attributable to enhanced interferon-gamma production and natural killer activities. (PMID:18482209)
- Data suggest that polymorphisms in the IL-27 gene may play a role in the development of chronic obstructive pulmonary disease in Chinese population. (PMID:18554158)
- These results implicate IL-12 and IL-27 in regulating human macrophages, and IL-27 derived from macrophages during infection impedes control of Mycobacterium tuberculosis growth. (PMID:18557702)
- The suppressive capacity of inducible regulatory T (Treg) cells is sustained with IL-27 and interferon (IFN)-gamma. (PMID:19124747)
- Single nucleotide polymorphisms in interleukin 27 is associated with nasopharyngeal carcinoma. (PMID:19148899)
- IL-27 down-regulates expression of T helper cell (Th)17-specific orphan nuclear receptor ROR gamma t and reduces production of IL-17A and IL-17F in naive T cells. (PMID:19380822)
- Both subunits of IL-27 were expressed in chronic lesional allergic eczematous skin, whereas the IL-27 subunit EBV-induced gene 3 was not detectable in the acute phase of eczema (PMID:19523673)
- Results reveal an IL-27-independent function of WSX1: sensitizing natural killer cell-mediated antitumor surveillance. (PMID:19549909)
- the IL-27-IFN-alpha connection is operative in CD4(+) T cells, consistent with an IFN-alpha-dependent pathway underlying host cell defense to HIV (PMID:19556424)
- exerts interferon-like functions in liver cells and can contribute to the antiviral response (PMID:19582813)
- Human IL-27 may act as an in vitro anti-inflammatory cytokine in human bone destruction by inhibiting osteoclastogenesis from granulocyte-macrophage colony-forming unit-producing cells via STAT1-dependent down-regulation of transcription factor c-Fos. (PMID:19620301)
- IL-27 plays a key role in human T cells by promoting a specific subset of IL-10-secreting regulatory T cells and inhibiting T helper (Th)17 cells, thus providing a dual regulatory mechanism to control autoimmunity and tissue inflammation. (PMID:19625647)
- IL27 were higher in affected areas compared to unaffected ones in Ulcerative Colitis but not Crohn Disease. (PMID:19657406)
- Interleukin-27 polymorphisms are associated with inflammatory bowel diseases in a Korean population. (PMID:19686419)
- IL-12 and IL-27 have roles in modulating Th2 polarization of carcinoembryonic antigen specific CD4 T cells from pancreatic cancer patients (PMID:19798410)
- IL-27 may promote the onset of psoriasis, while it may simultaneously attenuate the expanded inflammation in this disease (PMID:19924133)
- in addition to its well-known antiinflammatory effects, IL-27 plays a homeostatic role in restraining bone erosion (PMID:20112358)
- The in vitro effects of IL-27, alone or in combination with inflammatory cytokine tumor necrosis factor (TNF)-alpha on the pro-inflammatory activation of human primary bronchial epithelial cells, was investigated. (PMID:20301193)
- IL-27 induced by mycobacterium tuberculosis infection in human macrophages opposed IFN-gamma production by antagonizing IL-18 activity. (PMID:20375623)
- IL-27 may regulate the expression of Mac-1, fMLP-R and IL-1beta in human neutrophils through p38 MAPK and PI3K signal pathways. (PMID:20416175)
- roles in activation of eosinophils and allergic responses (PMID:20435369)
- IL-27 p28 gene transcription is activated by interferon regulatory factor 8 in cooperation with interferon regulatory factor 1 (PMID:20435892)
- This article reviews current understanding of the role of IL-27 in CD8+ T cell functions and generation of Cytotoxic T lymphocytes. (PMID:20454646)
- Interleukin-27 induces a STAT1/3- and NF-kappaB-dependent proinflammatory cytokine profile in human monocytes (PMID:20519510)
- Significantly higher plasma concentration of IL-27 was found in rheumatoid arthritis patients (PMID:20604932)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Il27 | ENSMUSG00000044701 |
| rattus_norvegicus | Il27 | ENSRNOG00000019170 |
Protein
Protein identifiers
Interleukin-27 subunit alpha — Q8NEV9 (reviewed: Q8NEV9)
Alternative names: Interleukin-30, p28
All UniProt accessions (2): Q8NEV9, H3BQY2
UniProt curated annotations — full annotation on UniProt →
Function. Associates with EBI3 to form the IL-27 interleukin, a heterodimeric cytokine which functions in innate immunity. IL-27 has pro- and anti-inflammatory properties, that can regulate T-helper cell development, suppress T-cell proliferation, stimulate cytotoxic T-cell activity, induce isotype switching in B-cells, and that has diverse effects on innate immune cells. Among its target cells are CD4 T-helper cells which can differentiate in type 1 effector cells (TH1), type 2 effector cells (TH2) and IL17 producing helper T-cells (TH17). It drives rapid clonal expansion of naive but not memory CD4 T-cells. It also strongly synergizes with IL-12 to trigger interferon-gamma/IFN-gamma production of naive CD4 T-cells, binds to the cytokine receptor WSX-1/TCCR which appears to be required but not sufficient for IL-27-mediated signal transduction. IL-27 potentiate the early phase of TH1 response and suppress TH2 and TH17 differentiation. It induces the differentiation of TH1 cells via two distinct pathways, p38 MAPK/TBX21- and ICAM1/ITGAL/ERK-dependent pathways. It also induces STAT1, STAT3, STAT4 and STAT5 phosphorylation and activates TBX21/T-Bet via STAT1 with resulting IL12RB2 up-regulation, an event crucial to TH1 cell commitment. It suppresses the expression of GATA3, the inhibitor TH1 cells development. In CD8 T-cells, it activates STATs as well as GZMB. IL-27 reveals to be a potent inhibitor of TH17 cell development and of IL-17 production. Indeed IL27 alone is also able to inhibit the production of IL17 by CD4 and CD8 T-cells. While IL-27 suppressed the development of pro-inflammatory Th17 cells via STAT1, it inhibits the development of anti-inflammatory inducible regulatory T-cells, iTreg, independently of STAT1. IL-27 also has an effect on cytokine production, it suppresses pro-inflammatory cytokine production such as IL2, IL4, IL5 and IL6 and activates suppressors of cytokine signaling such as SOCS1 and SOCS3. Apart from suppression of cytokine production, IL-27 also antagonizes the effects of some cytokines such as IL6 through direct effects on T-cells. Another important role of IL-27 is its antitumor activity as well as its antiangiogenic activity with activation of production of antiangiogenic chemokines such as IP-10/CXCL10 and MIG/CXCL9. In vein endothelial cells, it induces IRF1/interferon regulatory factor 1 and increase the expression of MHC class II transactivator/CIITA with resulting up-regulation of major histocompatibility complex class II. IL-27 also demonstrates antiviral activity with inhibitory properties on HIV-1 replication.
Subunit / interactions. Heterodimer with EBI3; not disulfide-linked. This heterodimer is known as interleukin IL-27.
Subcellular location. Secreted.
Tissue specificity. Expressed in monocytes and in placenta.
Post-translational modifications. O-glycosylated.
Induction. Transiently induced by bacterial lipopolysaccharides (LPS) stimulation in monocytes.
Similarity. Belongs to the IL-6 superfamily.
RefSeq proteins (1): NP_663634* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009079 | 4_helix_cytokine-like_core | Homologous_superfamily |
| IPR026207 | IL-27_alpha | Family |
UniProt features (16 total): helix 9, strand 2, sequence variant 2, signal peptide 1, chain 1, turn 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7ZXK | X-RAY DIFFRACTION | 2.2 |
| 8XWY | X-RAY DIFFRACTION | 3.4 |
| 7U7N | ELECTRON MICROSCOPY | 3.47 |
| 8D85 | ELECTRON MICROSCOPY | 3.81 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NEV9-F1 | 76.49 | 0.35 |
Antibody-complex structures (SAbDab): 1 — 7ZXK
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-9020956 | Interleukin-27 signaling |
MSigDB gene sets: 142 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_REGULATION_OF_CELL_ACTIVATION, CREL_01, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, GOBP_REGULATION_OF_ALPHA_BETA_T_CELL_ACTIVATION, REACTOME_CYTOKINE_SIGNALING_IN_IMMUNE_SYSTEM, GOBP_INFLAMMATORY_RESPONSE, GOBP_REGULATION_OF_DEFENSE_RESPONSE_TO_VIRUS, GOBP_RESPONSE_TO_PEPTIDE, GOBP_T_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, GOBP_REGULATION_OF_ADAPTIVE_IMMUNE_RESPONSE, GOBP_ALPHA_BETA_T_CELL_DIFFERENTIATION, GOBP_POSITIVE_REGULATION_OF_MAPK_CASCADE, GOCC_CELL_SURFACE, AREB6_01
GO Biological Process (12): positive regulation of defense response to virus by host (GO:0002230), inflammatory response (GO:0006954), positive regulation of type II interferon production (GO:0032729), regulation of T cell proliferation (GO:0042129), innate immune response (GO:0045087), regulation of T-helper 1 cell differentiation (GO:0045625), response to Gram-positive bacterium (GO:0140459), immune system process (GO:0002376), signal transduction (GO:0007165), response to bacterium (GO:0009617), regulation of defense response to virus (GO:0050688), regulation of T cell activation (GO:0050863)
GO Molecular Function (4): signaling receptor binding (GO:0005102), cytokine activity (GO:0005125), interleukin-27 receptor binding (GO:0045523), protein binding (GO:0005515)
GO Cellular Component (5): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), endoplasmic reticulum lumen (GO:0005788), cytosol (GO:0005829), cell surface (GO:0009986)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Interleukin-12 family signaling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| regulation of defense response to virus by host | 1 |
| defense response | 1 |
| positive regulation of cytokine production | 1 |
| type II interferon production | 1 |
| regulation of type II interferon production | 1 |
| T cell proliferation | 1 |
| regulation of lymphocyte proliferation | 1 |
| regulation of T cell activation | 1 |
| immune response | 1 |
| defense response to symbiont | 1 |
| regulation of immune effector process | 1 |
| regulation of T-helper 1 type immune response | 1 |
| T-helper 1 cell differentiation | 1 |
| regulation of T-helper cell differentiation | 1 |
| response to bacterium | 1 |
| biological_process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| response to other organism | 1 |
| regulation of response to biotic stimulus | 1 |
| regulation of defense response | 1 |
| regulation of response to external stimulus | 1 |
| defense response to virus | 1 |
| T cell activation | 1 |
| regulation of lymphocyte activation | 1 |
| protein binding | 1 |
| receptor ligand activity | 1 |
| cytokine receptor binding | 1 |
| binding | 1 |
| endoplasmic reticulum | 1 |
| intracellular organelle lumen | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1178 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| IL27 | EBI3 | Q14213 | 994 |
| IL27 | IL27RA | Q6UWB1 | 982 |
| IL27 | IL12RB2 | Q99665 | 805 |
| IL27 | IL23A | Q9NPF7 | 773 |
| IL27 | CRLF1 | O75462 | 766 |
| IL27 | IL12RB1 | P42701 | 739 |
| IL27 | TBX21 | Q9UL17 | 709 |
| IL27 | STAT1 | P42224 | 704 |
| IL27 | IL17A | Q16552 | 681 |
| IL27 | IFNG | P01579 | 673 |
| IL27 | IL6 | P05231 | 670 |
| IL27 | IL6ST | P40189 | 653 |
| IL27 | CD4 | P01730 | 630 |
| IL27 | STAT3 | P40763 | 630 |
| IL27 | IL6R | P08887 | 627 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| IL27RA | IL6ST | psi-mi:“MI:0914”(association) | 0.590 |
| IL27RA | IL6ST | psi-mi:“MI:0915”(physical association) | 0.590 |
| IL27 | EBI3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| IL27 | CRLF1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| WIF1 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (7): IL27 (Affinity Capture-Western), EBI3 (Affinity Capture-Western), IL27RA (Affinity Capture-Western), IL27 (Affinity Capture-Western), IL27 (Affinity Capture-MS), S100P (Reconstituted Complex), S100A6 (Reconstituted Complex)
ESM2 similar proteins: A0A140LIA7, A0A1B0GTL2, A2VDX9, A3FFS8, A6NCS6, A8MVW0, K9M1U5, O43541, P01588, P03971, P03972, P07321, P07865, P0C7N4, P0DPE3, P13725, P27106, P29676, P33707, P33708, P33709, P48617, P49000, P49157, P53346, P79295, Q02011, Q0Z956, Q16619, Q1HCM0, Q28513, Q29RM6, Q5BLP8, Q5S1V9, Q60753, Q63086, Q65Z15, Q6H8S9, Q6H8T0, Q6H8T1
Diamond homologs: Q5S1V9, Q8K3I6, Q8NEV9
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| IL27 | up-regulates | IL27RA | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
42 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 31 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1073956 | NC_000016.9:g.(?28488827)(28950294_?)del | Pathogenic |
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1534 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:28503932:G:C | S50R | 0.991 |
| 16:28503932:G:T | S50R | 0.991 |
| 16:28503934:T:G | S50R | 0.991 |
| 16:28503878:A:C | F68L | 0.976 |
| 16:28503878:A:T | F68L | 0.976 |
| 16:28503880:A:G | F68L | 0.976 |
| 16:28501979:G:C | F153L | 0.968 |
| 16:28501979:G:T | F153L | 0.968 |
| 16:28501981:A:G | F153L | 0.968 |
| 16:28503709:A:G | W97R | 0.968 |
| 16:28503709:A:T | W97R | 0.968 |
| 16:28501998:A:G | L147P | 0.965 |
| 16:28503879:A:C | F68C | 0.965 |
| 16:28502007:A:G | L144P | 0.959 |
| 16:28503707:C:A | W97C | 0.955 |
| 16:28503707:C:G | W97C | 0.955 |
| 16:28503879:A:G | F68S | 0.955 |
| 16:28503941:G:C | F47L | 0.953 |
| 16:28503941:G:T | F47L | 0.953 |
| 16:28503943:A:G | F47L | 0.953 |
| 16:28502090:G:C | F116L | 0.948 |
| 16:28502090:G:T | F116L | 0.948 |
| 16:28502092:A:G | F116L | 0.948 |
| 16:28499792:C:A | W197C | 0.944 |
| 16:28499792:C:G | W197C | 0.944 |
| 16:28503912:A:G | L57P | 0.944 |
| 16:28503921:G:T | A54D | 0.936 |
| 16:28503942:A:G | F47S | 0.932 |
| 16:28499794:A:G | W197R | 0.927 |
| 16:28499794:A:T | W197R | 0.927 |
dbSNP variants (sampled 300 via entrez): RS1000325951 (16:28503889 C>A,T), RS1000834978 (16:28504243 C>G,T), RS1001569616 (16:28500176 G>A), RS1002292096 (16:28504547 A>G), RS1002379128 (16:28503172 G>A), RS1002838477 (16:28501533 C>A,T), RS1002966522 (16:28507200 A>G), RS1002999171 (16:28507017 C>T), RS1004210272 (16:28504378 T>TGA), RS1004266429 (16:28502127 T>C,G), RS1004413565 (16:28501626 C>T), RS1004493465 (16:28507885 C>T), RS1004854631 (16:28506365 G>A), RS1005135910 (16:28502868 G>C,T), RS1006093024 (16:28502983 C>A,T)
Disease associations
OMIM: gene MIM:608273 | disease phenotypes: MIM:256730
GenCC curated gene-disease
Mondo (1): neuronal ceroid lipofuscinosis (MONDO:0016295)
Orphanet (2): Neuronal ceroid lipofuscinosis (Orphanet:216), OBSOLETE: Infantile neuronal ceroid lipofuscinosis (Orphanet:79263)
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)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs8049439 | ATXN2L, IL27, NPIPB8 | 0.00 | 0 |
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| titanium dioxide | affects expression, increases secretion | 2 |
| Benzo(a)pyrene | decreases expression, increases methylation | 2 |
| Lipopolysaccharides | decreases reaction, increases expression | 2 |
| fluorene-9-bisphenol | decreases expression | 1 |
| Asian ginseng | affects cotreatment, decreases expression | 1 |
| TL8-506 | affects cotreatment, increases expression, increases secretion | 1 |
| triphenyl phosphate | affects expression | 1 |
| nickel chloride | increases expression | 1 |
| perfluorooctanoic acid | decreases expression | 1 |
| nickel sulfate | decreases reaction, increases expression, increases reaction, increases secretion, affects reaction | 1 |
| S-(1,2-dichlorovinyl)cysteine | decreases reaction, increases expression | 1 |
| titanium nickelide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| SB 203580 | decreases reaction, increases expression | 1 |
| perfluoro-n-nonanoic acid | decreases expression | 1 |
| BAY 11-7085 | decreases reaction, increases expression | 1 |
| perfluorohexanesulfonic acid | decreases expression | 1 |
| Janus Kinase Inhibitors | increases secretion, decreases reaction | 1 |
| Diethylhexyl Phthalate | affects cotreatment, decreases expression, increases expression | 1 |
| Poly I-C | affects cotreatment, increases secretion | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Simvastatin | affects reaction, decreases expression, decreases secretion, increases expression, increases secretion | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B8IE | Abcam HCT 116 IL27 KO | Cancer cell line | Male |
| CVCL_B8XC | Abcam MCF-7 IL27 KO | Cancer cell line | Female |
| CVCL_B9KN | Abcam A-549 IL27 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
7 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00337636 | PHASE1 | COMPLETED | Study of HuCNS-SC Cells in Patients With Infantile or Late Infantile Neuronal Ceroid Lipofuscinosis (NCL) |
| NCT01238315 | PHASE1 | WITHDRAWN | Safety and Efficacy Study of HuCNS-SC in Subjects With Neuronal Ceroid Lipofuscinosis |
| NCT07582484 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Gene Therapy Trial for CLN6 Batten Disease |
| NCT01873924 | Not specified | RECRUITING | Clinical and Neuropsychological Investigations in Batten Disease |
| NCT01966757 | Not specified | COMPLETED | Neuronal Ceroid Lipofuscinosis and Associated Sleep Abnormalities |
| NCT04613089 | Not specified | RECRUITING | Natural History and Longitudinal Clinical Assessments in NCL / Batten Disease, the International DEM-CHILD Database |
| NCT06844877 | Not specified | RECRUITING | Italian NCL Registry: a Registry for NCL as an Integration Tool for Future Therapeutic Strategies |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): neuronal ceroid lipofuscinosis