CILP2
Cartilage Intermediate Layer Protein 2
Gene Information Card
| Symbol | CILP2 |
|---|---|
| Full Name | Cartilage Intermediate Layer Protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 143662 ncbi.nlm.nih.gov/gene/143662 |
| Ensembl ID | ENSG00000160145 |
| UniProt ID | Q8IUL8 |
| OMIM ID | 612419 |
| HGNC ID | 24227 |
| Aliases | CILP-2, FLJ90652 |
Description
CILP2 encodes cartilage intermediate layer protein 2, a secreted extracellular matrix protein predominantly expressed in cartilage. It is involved in cartilage structure and may play a role in osteoarthritis and intervertebral disc degeneration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered extracellular matrix composition; CILP2 expression changes may affect cartilage integrity. | Association studies (PMID: 19361615) |
| Intervertebral disc degeneration | Potential role in disc matrix remodeling; expression differences observed in degenerated discs. | Expression analysis (PMID: 20691676) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cartilage | 12.5 | Medium |
| Adipose tissue | 8.2 | Low |
| Lung | 5.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Chondrocytes | 15.0 | Primary chondrocytes |
| SW1353 | 10.2 | Chondrosarcoma cell line |
| HeLa | 2.1 | Cervical carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% | Unknown functional effect; rare variant |
| c.1523G>A (p.Arg508Gln) | Missense | <0.01% | Unknown functional effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • extracellular region | • extracellular matrix |
| • calcium ion binding | • protein binding |
Pathways
• Extracellular matrix organization
• Collagen biosynthesis and modifying enzymes
Protein Summary
Cartilage intermediate layer protein 2 is a 1306-amino-acid secreted protein containing a signal peptide and multiple EGF-like domains. It is expressed in cartilage and may interact with other matrix components to maintain tissue integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
| CILP2 Knockout HeLa Cell Line | EDJ-KQ58599 | Human | 148113 | Details Get a Quote |
| CILP2 Knockout A-549 Cell Line | EDJ-KQ67083 | Human | 148113 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
