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CILP2 cartilage intermediate layer protein 2 [ Homo sapiens (human) ]

Gene ID: 148113, updated on 2-Nov-2024

Summary

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Official Symbol
CILP2provided by HGNC
Official Full Name
cartilage intermediate layer protein 2provided by HGNC
Primary source
HGNC:HGNC:24213
See related
Ensembl:ENSG00000160161 MIM:612419; AllianceGenome:HGNC:24213
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLIP-2
Summary
Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Biased expression in testis (RPKM 2.1), gall bladder (RPKM 1.1) and 8 other tissues See more
Orthologs
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Genomic context

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See CILP2 in Genome Data Viewer
Location:
19p13.11
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (19538265..19546659)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (19675753..19684147)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (19649074..19657468)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14360 Neighboring gene NADH:ubiquinone oxidoreductase subunit A13 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19635662-19636637 Neighboring gene Sharpr-MPRA regulatory region 9511 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19638979-19639479 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19640455-19641386 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10446 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10447 Neighboring gene YjeF N-terminal domain containing 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19650412-19651074 Neighboring gene Sharpr-MPRA regulatory region 4095 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19656191-19656874 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19662820-19663379 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19671101-19671600 Neighboring gene PBX homeobox 4 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:19686115-19686616 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr19:19686617-19687116 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:19690665-19691164 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14361 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14362 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:19703425-19704049 Neighboring gene PHF5A pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14363 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10449 Neighboring gene H3K27ac hESC enhancer GRCh37_chr19:19722648-19723212 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10450 Neighboring gene Sharpr-MPRA regulatory region 12805 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10451 Neighboring gene lysophosphatidic acid receptor 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Circulating Levels of CILP2 Are Elevated in Coronary Heart Disease and Associated with Atherosclerosis. Hu W, et al. Oxid Med Cell Longev, 2020. PMID 33204392, Free PMC Article
  2. CILP2 promotes hypertrophic scar through Snail acetylation by interaction with ACLY. Wang J, et al. Biochim Biophys Acta Mol Basis Dis, 2024 Jun. PMID 38670440
  3. Expression of CILP-2 and DDR2 and ultrastructural changes in the articular cartilage of patients with knee osteoarthritis undergoing total knee arthroplasty: a pilot morphological study. Torga T, et al. Med Mol Morphol, 2023 Mar. PMID 36370214
  4. CILP2 is a potential biomarker for the prediction and therapeutic target of peritoneal metastases in colorectal cancer. Ha YJ, et al. Sci Rep, 2024 May 31. PMID 38816545, Free PMC Article
  5. Association of CILP2 and ACE gene polymorphisms with cardiovascular risk factors in Slovak midlife women. Luptáková L, et al. Biomed Res Int, 2013. PMID 24350279, Free PMC Article

See all (34) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CILP2 is a potential biomarker for the prediction and therapeutic target of peritoneal metastases in colorectal cancer.
    Title: CILP2 is a potential biomarker for the prediction and therapeutic target of peritoneal metastases in colorectal cancer.
  2. CILP2 promotes hypertrophic scar through Snail acetylation by interaction with ACLY.
    Title: CILP2 promotes hypertrophic scar through Snail acetylation by interaction with ACLY.
  3. Expression of CILP-2 and DDR2 and ultrastructural changes in the articular cartilage of patients with knee osteoarthritis undergoing total knee arthroplasty: a pilot morphological study.
    Title: Expression of CILP-2 and DDR2 and ultrastructural changes in the articular cartilage of patients with knee osteoarthritis undergoing total knee arthroplasty: a pilot morphological study.
  4. Circulating Levels of CILP2 Are Elevated in Coronary Heart Disease and Associated with Atherosclerosis.
    Title: Circulating Levels of CILP2 Are Elevated in Coronary Heart Disease and Associated with Atherosclerosis.
  5. This study aims to analyze the influences of single-nucleotide polymorphism in the NCAN-CILP2 region on non-alcoholic fatty liver disease and plasma lipid levels in the Asian and Pacific ethnic groups.
    Title: Replication analysis of genetic association of the NCAN-CILP2 region with plasma lipid levels and non-alcoholic fatty liver disease in Asian and Pacific ethnic groups.
  6. The minor T allele of CILP2 gene and I allele of ACE gene have a protective effect.
    Title: Association of CILP2 and ACE gene polymorphisms with cardiovascular risk factors in Slovak midlife women.
  7. Sex (male)-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels is observed both the Mulao and Han ethnic groups.
    Title: Sex-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels in the Mulao and Han populations.
  8. Cartilage intermediate layer protein 2 (CILP-2) is expressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritis.
    Title: Cartilage intermediate layer protein 2 (CILP-2) is expressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritis.
  9. Data show no differences in triglyceride or total cholesterol levels in relation to any allelic variants of ANGPTL3, CILP2, or TRIB1 SNPs.
    Title: Triglyceride level-influencing functional variants of the ANGPTL3, CILP2, and TRIB1 loci in ischemic stroke.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
EBI GWAS Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
EBI GWAS Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC45771

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT enables alkaline phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
NOT enables dinucleotide phosphatase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
cartilage intermediate layer protein 2
Names
CILP-2
cartilage intermediate layer protein-like protein 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_153221.2 → NP_694953.2  cartilage intermediate layer protein 2 precursor

    See identical proteins and their annotated locations for NP_694953.2

    Status: VALIDATED

    Source sequence(s)
    AF542080, BC018939, DA328640
    Consensus CDS
    CCDS12405.1
    UniProtKB/Swiss-Prot
    Q6NV88, Q8IUL8, Q8N4A6, Q8WV21
    UniProtKB/TrEMBL
    B2RAJ0
    Related
    ENSP00000291495.3, ENST00000291495.5
    Conserved Domains (7) summary
    smart00408
    Location:306 → 366
    IGc2; Immunoglobulin C-2 Type
    smart00209
    Location:149 → 197
    TSP1; Thrombospondin type 1 repeats
    pfam07679
    Location:292 → 377
    I-set; Immunoglobulin I-set domain
    pfam13330
    Location:58 → 143
    Mucin2_WxxW; Mucin-2 protein WxxW repeating region
    pfam13620
    Location:213 → 286
    CarboxypepD_reg; Carboxypeptidase regulatory-like domain
    pfam13715
    Location:475 → 526
    CarbopepD_reg_2; CarboxypepD_reg-like domain
    cl21545
    Location:412 → 466
    GHB_like; Glycoprotein hormone beta chain homologues

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    19538265..19546659
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    19675753..19684147
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IUL8.2 GenPept UniProtKB/Swiss-Prot:Q8IUL8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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