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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CILP
cartilage intermediate layer protein
Chromosome 15 · 15q22.31
NCBI Gene: 8483Ensembl: ENSG00000138615.7HGNC: HGNC:1980UniProt: O75339
35PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
alkaline phosphatase activitydinucleotide phosphatase activityextracellular matrixextracellular exosomeatrial fibrillationlumbar disc degenerationalcohol drinkinglumbar disk degenerative disorder
✦AI Summary

CILP (cartilage intermediate layer protein) is a secreted extracellular matrix glycoprotein encoded by a single-copy gene on chromosome 15, organized in nine exons spanning approximately 15.3 kbp 1. The protein functions primarily as a negative regulator of growth factor signaling in cartilage. CILP antagonizes transforming growth factor-beta1 (TGF-β1) and insulin-like growth factor-1 (IGF-1) signaling by suppressing IGF-1-induced chondrocyte proliferation and inhibiting IGF1 receptor autophosphorylation, while also modulating SMAD protein signal transduction 2. Additionally, CILP mediates ferroptosis-related gene regulation through the miR-140-3p/CILP axis, affecting oxidative stress and inflammatory responses 3. In osteoarthritis, CILP+ synovial fibroblasts exert protective effects on chondrocytes through cell proliferation promotion and inflammation inhibition, contrasting with pro-degenerative POSTN+ fibroblasts 2. CILP expression correlates with osteoarthritis progression severity and serves as a potential disease marker 4. Regarding lumbar disc disease, genetic associations vary by population: the CILP rs2073711 GG genotype shows reduced disease risk in Indian populations 5, while the +1184T→C SNP shows ethnicity-dependent associations 6. Beyond musculoskeletal tissues, CILP marks persistently activated cardiac fibroblasts in heart failure and demonstrates pan-cancer significance as a potential prognostic marker 78.

Sources cited
1
CILP gene structure, chromosomal location (15q22), and organization in nine exons spanning 15.3 kbp of genomic DNA
PMID: 10601732
2
CILP+ synovial fibroblasts promote chondrocyte proliferation and inhibit inflammation, protecting against cartilage damage in osteoarthritis
PMID: 39720254
3
miR-140-3p directly targets CILP and regulates ferroptosis, inflammation, and oxidative stress in osteoarthritis
PMID: 40044625
4
CILP-2 expression correlates with osteoarthritis severity and cartilage damage grades
PMID: 36370214
5
CILP rs2073711 GG genotype associated with reduced lumbar disc degeneration risk in Indian population
PMID: 30288688
6
CILP +1184T→C SNP shows population-dependent association with lumbar disc disease
PMID: 17220213
7
CILP marks persistently activated cardiac fibroblasts in heart failure and hypertrophic cardiomyopathy
PMID: 37648651
8
CILP serves as a pan-cancer marker and influences tumors through fibroblasts and cell-cell communication
PMID: 37968343
Disease Associationsⓘ21
atrial fibrillationOpen Targets
0.41Moderate
lumbar disc degenerationOpen Targets
0.38Weak
alcohol drinkingOpen Targets
0.33Weak
lumbar disk degenerative disorderOpen Targets
0.19Weak
nail-patella syndromeOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
acroleukopathy, symmetricOpen Targets
0.07Suggestive
Dowling-Degos disease 1Open Targets
0.07Suggestive
familial generalized lentiginosisOpen Targets
0.07Suggestive
familial progressive hyperpigmentationOpen Targets
0.07Suggestive
linear atrophoderma of MoulinOpen Targets
0.07Suggestive
Neurofibromatosis type 6Open Targets
0.07Suggestive
dilated cardiomyopathyOpen Targets
0.07Suggestive
Åland Islands eye diseaseOpen Targets
0.06Suggestive
dyschromatosis symmetrica hereditariaOpen Targets
0.06Suggestive
Dyschromatosis universalisOpen Targets
0.06Suggestive
Dowling-Degos diseaseOpen Targets
0.05Suggestive
hyperpigmentation with or without hypopigmentation, familial progressiveOpen Targets
0.05Suggestive
bladder transitional cell carcinomaOpen Targets
0.05Suggestive
pulmonary fibrosisOpen Targets
0.05Suggestive
Intervertebral disc diseaseUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ASPNProtein interaction88%HLA-DRB1Protein interaction84%COL9A3Protein interaction82%HLA-DRAProtein interaction81%COL9A2Protein interaction80%COL11A1Protein interaction78%
Tissue Expression6 tissues
Heart
100%
Ovary
18%
Lung
6%
Liver
5%
Bone Marrow
1%
Brain
0%
Gene Interaction Network
Click a node to explore
CILPASPNHLA-DRB1COL9A3HLA-DRACOL9A2COL11A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O75339
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.08LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.73–1.08]
RankingsWhere CILP stands among ~20K protein-coding genes
  • #10,937of 20,598
    Most Researched35
  • #10,918of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedCILP
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The human CILP gene: exon/intron organization and chromosomal mapping.
PMID: 10601732
Matrix Biol · 1999
1.00
2
Single-cell profiling uncovers synovial fibroblast subpopulations associated with chondrocyte injury in osteoarthritis.
PMID: 39720254
Front Endocrinol (Lausanne) · 2024
0.90
3
Phenotypic and population differences in the association between CILP and lumbar disc disease.
PMID: 17220213
J Med Genet · 2007
0.80
4
Association of CILP, COL9A2 and MMP3 Gene Polymorphisms with Lumbar Disc Degeneration in an Indian Population.
PMID: 30288688
J Mol Neurosci · 2018
0.70
5
Exploring the Therapeutic Potential of MIR-140-3p in Osteoarthritis: Targeting CILP and Ferroptosis for Novel Treatment Strategies.
PMID: 40044625
Cell Prolif · 2025
0.60