CILP: Cartilage Intermediate Layer Protein
A key extracellular matrix glycoprotein in cartilage and intervertebral disc homeostasis
Gene Information Card
| Symbol | CILP |
|---|---|
| Full Name | Cartilage Intermediate Layer Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 15q22.31 |
| NCBI Gene ID | 8483 ncbi.nlm.nih.gov/gene/8483 |
| Ensembl ID | ENSG00000138646 |
| UniProt ID | O75339 |
| OMIM ID | 603489 |
| HGNC ID | 1980 |
| Aliases | CILP-1, CILP1, HsT18872 |
Description
CILP encodes cartilage intermediate layer protein, an extracellular matrix glycoprotein predominantly expressed in articular cartilage and intervertebral discs. It is involved in matrix organization and chondrocyte differentiation. Polymorphisms in CILP have been associated with susceptibility to osteoarthritis and lumbar disc disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered extracellular matrix composition and chondrocyte function | OMIM 603489; NCBI Gene PMID: 10462493 |
| Intervertebral disc degeneration | CILP variants affect disc matrix integrity | OMIM 603489; ClinVar RCV000008123 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | Medium |
| Intervertebral disc | 8.3 | Low |
| Bone | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes (primary) | 15.0 | High expression |
| SW1353 (chondrosarcoma) | 6.8 | Moderate expression |
| HeLa | 0.5 | Low/not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs2073711 (Ile395Thr) | Missense | 0.15 (East Asian) | Associated with disc degeneration |
| rs1042630 (Arg103Trp) | Missense | 0.02 (European) | Potential functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; no clear loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region (GO:0005576) | • extracellular matrix structural constituent (GO:0030020) |
| • cell adhesion (GO:0007155) | • extracellular matrix organization (GO:0030198) |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Collagen formation (Reactome: R-HSA-1474290)
Protein Summary
Cartilage intermediate layer protein (CILP) is a 1184-amino-acid secreted glycoprotein that localizes to the extracellular matrix of cartilage and intervertebral discs. It contains an N-terminal signal peptide, a central domain with homology to the insulin-like growth factor binding protein (IGFBP) family, and a C-terminal domain with a cysteine-rich region. CILP modulates TGF-β signaling and matrix mineralization, playing a role in maintaining tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Cilp Knockout LL/2 (LLC1) Cell Line | EDJ-KQ51 | Mouse | 214425 | Details Get a Quote |
| CILP Knockout HEK293 Cell Line | EDJ-KQ3764 | Human | 8483 | Details Get a Quote |
| CILP2 Knockout HEK293 Cell Line | EDJ-KQ10715 | Human | 148113 | Details Get a Quote |
| CILP2 Knockout HCT 116 Cell Line | EDJ-KQ38276 | Human | 148113 | Details Get a Quote |
| CILP Knockout HeLa Cell Line | EDJ-KQ54917 | Human | 8483 | Details Get a Quote |
| CILP2 Knockout HeLa Cell Line | EDJ-KQ58599 | Human | 148113 | Details Get a Quote |
| CILP Knockout A-549 Cell Line | EDJ-KQ63404 | Human | 8483 | Details Get a Quote |
| CILP2 Knockout A-549 Cell Line | EDJ-KQ67083 | Human | 148113 | Details Get a Quote |
| CILP Knockout HCT 116 Cell Line | EDJ-KQ71871 | Human | 8483 | Details Get a Quote |
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