IL34 Gene - Interleukin 34
A cytokine involved in macrophage differentiation and immune regulation
Gene Information Card
| Symbol | IL34 |
|---|---|
| Full Name | Interleukin 34 |
| Gene Type | protein-coding |
| Chromosomal Location | 16q22.1 |
| NCBI Gene ID | 146433 ncbi.nlm.nih.gov/gene/146433 |
| Ensembl ID | ENSG00000157368 |
| UniProt ID | Q6ZMJ4 |
| OMIM ID | 612081 |
| HGNC ID | 28729 |
| Aliases | C16orf77, MGC34647 |
Description
IL34 (Interleukin 34) is a protein-coding gene that encodes a cytokine which promotes the differentiation, proliferation, and survival of monocytes, macrophages, and osteoclasts by binding to the colony-stimulating factor 1 receptor (CSF1R). It plays a key role in innate immunity, inflammation, and tissue homeostasis. The gene is located on chromosome 16q22.1 and is expressed in various tissues, including spleen, thymus, and brain.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Rheumatoid Arthritis | IL34 promotes synovial macrophage activation and osteoclastogenesis via CSF1R signaling, contributing to joint inflammation and bone erosion. | PMID: 25605269 |
| Alzheimer's Disease | IL34 is upregulated in the brain and may modulate microglial function through CSF1R, influencing neuroinflammation and amyloid-beta clearance. | PMID: 27830702 |
| Cancer (e.g., breast, lung) | IL34 expression in tumor microenvironment recruits tumor-associated macrophages (TAMs) that support angiogenesis, immune evasion, and metastasis. | PMID: 25964299 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Spleen | 12.3 | High |
| Thymus | 8.7 | Medium |
| Lung | 5.2 | Medium |
| Brain | 3.1 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| THP-1 (monocyte) | 15.6 | High expression |
| HUVEC (endothelial) | 7.4 | Medium expression |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| MCF7 (breast cancer) | 4.8 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | <0.01% | Unknown functional effect |
| c.487G>A (p.Val163Ile) | Missense | <0.01% | Unknown functional effect |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start loss mutations (e.g., p.Met1Val) likely abolish protein translation.
Gain of Function (GOF)
No gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity (GO:0005125) | • protein binding (GO:0005515) |
| • growth factor activity (GO:0008083) | • identical protein binding (GO:0042802) |
| • metal ion binding (GO:0046872) |
Pathways
• CSF1-CSF1R signaling pathway
• Macrophage differentiation and activation
• Osteoclast differentiation
• Innate immune system
Protein Summary
Interleukin 34 (IL34) is a 242-amino acid secreted cytokine that binds to the CSF1 receptor (CSF1R) to regulate the survival, proliferation, and differentiation of monocytes, macrophages, and osteoclasts. It shares functional redundancy with CSF1 but has distinct tissue expression patterns. The protein contains a cytokine-like domain and is involved in immune homeostasis, inflammation, and bone remodeling. Dysregulation of IL34 is implicated in autoimmune diseases, neurodegenerative disorders, and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL34 Knockout HEK293 Cell Line | EDJ-KQ10480 | Human | 146433 | Details Get a Quote |
| IL34 Knockout A-549 Cell Line | EDJ-KQ37876 | Human | 146433 | Details Get a Quote |
| IL34 Knockout HeLa Cell Line | EDJ-KQ58546 | Human | 146433 | Details Get a Quote |
| IL34 Knockout HCT 116 Cell Line | EDJ-KQ75436 | Human | 146433 | Details Get a Quote |
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