IL32
protein-codinginterleukin 32, the group of Interleukins
Gene summary
This gene encodes a member of the cytokine family. The protein contains a tyrosine sulfation site, 3 potential N-myristoylation sites, multiple putative phosphorylation sites, and an RGD cell-attachment sequence. Expression of this protein is increased after the activation of T-cells by mitogens or the activation of NK cells by IL-2. This protein induces the production of TNFalpha from macrophage cells. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~16.9 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to IL32 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001376923.1. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 2 | 3 | |||
| missense | 57 | 2 | 5 | 64 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 7 | 7 | ||||
| Total | 0 | 0 | 64 | 3 | 7 | 74 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001363852.1 | 6 | MANE Select | |
| Ensembl | ENSP00000432218.3 | 6 | MANE Select | |
| RefSeq | NP_001012649.1 | 6 | Standard | |
| RefSeq | NP_001012650.1 | 6 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Other interleukin signaling
- Signaling by Interleukins
- Cytokine Signaling in Immune system
- Immune System
Biological Process
- defense response
- immune response
- cell adhesion
- regulation of signaling receptor activity
- cytokine-mediated signaling pathway
Molecular Function
- cytokine activity
- protein binding
Cellular Component
- extracellular space
- cytosol
- membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000525643
- Coding exons
- 6
- Length
- 16611
- Individuals with no LoFs
- 125707
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 37
- Defined
- 125744
- p
- 0.000147
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -2.35 | 165 | 99.2 | 1.66 | 0.00000538 | 1181 |
| Missense (PolyPhen) | 32 | 20.669 | 1.5482 | 252 | ||
| Synonymous | -2.70 | 59 | 37.8 | 1.56 | 0.00000220 | 323 |
| Loss of Function | -1.11 | 11 | 7.68 | 1.43 | 4.11e-7 | 82 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00053 | 0.00043 | rare |
| Latino/Admixed American | 0.00032 | 0.00032 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00065 | 0.00065 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0 | 0.0 | absent |
| South Asian | 0.00021 | 0.00020 | rare |
| Other | 0.00016 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Cytokine that may play a role in innate and adaptive immune responses. It induces various cytokines such as TNFA/TNF- alpha and IL8. It activates typical cytokine signal pathways of NF-kappa-B and p38 MAPK. {ECO:0000269|PubMed:15664165}.;
Intolerance Scores
- LoFtool
- 0.999
- RVIS EVS
- 1.55
- RVIS percentile EVS
- 95.62
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.135
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |