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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CILP2
cartilage intermediate layer protein 2
Chromosome 19 · 19p13.11
NCBI Gene: 148113Ensembl: ENSG00000160161.10HGNC: HGNC:24213UniProt: Q8IUL8
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
alkaline phosphatase activitydinucleotide phosphatase activityextracellular exosomeGO:0005615rheumatoid arthritismathematical abilitycolorectal carcinomatype 2 diabetes mellitus
✦AI Summary

CILP2 (cartilage intermediate layer protein 2) is a secreted extracellular matrix component initially characterized in cartilage that has emerged as a pleiotropic modulator of metabolic and pathological processes 1. Primary function: CILP2 regulates glucose metabolism and insulin sensitivity, particularly in skeletal muscle, where elevated expression impairs myogenic differentiation and glucose uptake 2. Mechanism: CILP2 suppresses the Wnt/β-catenin signaling pathway through interaction with Wnt3a, reducing myogenesis and mitochondrial function 2. It also stabilizes ATP citrate lyase (ACLY) to promote fibroblast activation and collagen synthesis 3, and activates PPARγ signaling to increase lipid uptake via CD36 upregulation 4. Disease relevance: CILP2 is upregulated in sarcopenia, dyslipidemia, coronary heart disease, hypertrophic scars, and multiple cancers 1. Genetic variants at the NCAN-CILP2 locus associate with cardiovascular risk factors and lipid profiles 56. CILP2 knockdown in aged mice improved muscle mass, grip strength, and glucose metabolism 2. Clinical significance: Circulating CILP2 levels correlate with disease severity and poor prognosis across multiple conditions 7, making it a promising biomarker and therapeutic target for metabolic and fibrotic diseases.

Sources cited
1
CILP2 suppresses Wnt/β-catenin signaling through Wnt3a interaction, impairing myogenesis, glucose uptake, and mitochondrial function in skeletal muscle; CILP2 knockdown improves sarcopenia phenotype
PMID: 39385717
2
CILP2 G/T polymorphism associates with lipid parameters; T allele carriers show higher HDL-C and lower LDL-C, apoB, and lipid ratios
PMID: 24350279
3
CILP2 SNPs and gene-gene interactions associate with hyperlipidemia susceptibility in Chinese population; specific haplotypes show protective or risk effects
PMID: 32568739
4
CILP2 is a pleiotropic secretory protein upregulated by metabolic stress; involved in dyslipidemia, diabetes, sarcopenia, fibrosis, and cancer through multiple signaling pathways
PMID: 41594707
5
CILP2 identified as potential therapeutic target for rheumatoid arthritis; upregulated in RA and shows good biomarker potential
PMID: 40996951
6
CILP2 promotes hypertrophic scar formation by stabilizing ACLY, promoting Snail acetylation, and driving fibroblast proliferation and collagen synthesis
PMID: 38670440
7
CILP2 associated with ischemia/reperfusion injury in liver transplantation; expression correlates with Th17 cell infiltration
PMID: 35667543
8
Elevated circulating CILP2 in coronary heart disease correlates with atherosclerosis markers; CILP2 increases lipid accumulation in macrophages via CD36 upregulation through PPARγ activation
PMID: 33204392
Disease Associationsⓘ20
rheumatoid arthritisOpen Targets
0.24Weak
mathematical abilityOpen Targets
0.16Weak
colorectal carcinomaOpen Targets
0.10Suggestive
type 2 diabetes mellitusOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.07Suggestive
lumbar disc degenerationOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
esophageal varicesOpen Targets
0.05Suggestive
atherosclerosisOpen Targets
0.05Suggestive
coronary artery diseaseOpen Targets
0.04Suggestive
familial hyperlipidemiaOpen Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
sarcopeniaOpen Targets
0.04Suggestive
bipolar disorderOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
hyperlipidemiaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PBX4Protein interaction83%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
53%
Ovary
33%
Lung
6%
Liver
5%
Heart
1%
Gene Interaction Network
Click a node to explore
CILP2PBX4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IUL8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.01 [0.77–1.33]
RankingsWhere CILP2 stands among ~20K protein-coding genes
  • #10,938of 20,598
    Most Researched35
  • #13,946of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedCILP2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Inhibition of CILP2 Improves Glucose Metabolism and Mitochondrial Dysfunction in Sarcopenia via the Wnt Signalling Pathway.
PMID: 39385717
J Cachexia Sarcopenia Muscle · 2024
1.00
2
Association of CILP2 and ACE gene polymorphisms with cardiovascular risk factors in Slovak midlife women.
PMID: 24350279
Biomed Res Int · 2013
0.90
3
Association of the
PMID: 32568739
Aging (Albany NY) · 2020
0.80
4
CILP2: From ECM Component to a Pleiotropic Modulator in Metabolic Dysfunction, Cancer, and Beyond.
PMID: 41594707
Biomolecules · 2026
0.70
5
Exploration of potential novel drug targets for rheumatoid arthritis by plasma proteome screening.
PMID: 40996951
PLoS Comput Biol · 2025
0.60