Aliases for CILP2 Gene

Aliases for CILP2 Gene

  • Cartilage Intermediate Layer Protein 2 2 3 4 5
  • CILP-2 3 4
  • Cartilage Intermediate Layer Protein-Like Protein 2 3
  • MGC45771 2
  • CLIP-2 3
  • CILP2 5

External Ids for CILP2 Gene

Previous GeneCards Identifiers for CILP2 Gene

  • GC19P019473
  • GC19P019511
  • GC19P019649
  • GC19P019211

Summaries for CILP2 Gene

GeneCards Summary for CILP2 Gene

CILP2 (Cartilage Intermediate Layer Protein 2) is a Protein Coding gene. Diseases associated with CILP2 include Osgood-Schlatter's Disease. Gene Ontology (GO) annotations related to this gene include carbohydrate binding and nucleotide diphosphatase activity. An important paralog of this gene is CILP.

UniProtKB/Swiss-Prot Summary for CILP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CILP2 Gene

Genomics for CILP2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CILP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J019536 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 250.7 -0.2 -247 1.6 ZNF600 ZNF223 POLR2A ZIC2 KLF9 SP2 YY1 KLF16 REST TAF1 CILP2 HSALNG0124734 lnc-TSSK6-3 NDUFA13 GATAD2A YJEFN3
GH19J020077 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 4.7 +542.5 542466 6.8 SP1 POLR2A YY1 RAD51 SP2 SAP130 ZSCAN9 CTCF PKNOX1 MAX ENSG00000240673 LOC100419301 ZNF90 lnc-ZNF682-2 ZNF682 BNIP3P15 CILP2 MEF2B ZNF506 HSALNG0124779
GH19J020151 Promoter 0.3 Ensembl 4.4 +613.5 613453 0.6 ENSG00000267220 HSALNG0124787 piR-41399-216 piR-43099-291 piR-31162-233 piR-31432-332 piR-55650-327 piR-55654-231 piR-43325-048 piR-55657-119
GH19J020453 Enhancer 0.2 Ensembl 5.1 +915.6 915553 0.8 CILP2 HSALNG0124809 HSALNG0124811 ENSG00000269043 LOC105372317 ZNF737 ZNF486
GH19J019539 Promoter/Enhancer 1 Ensembl ENCODE 0.7 +2.8 2789 1.1 MYC ZNF592 BHLHE40 SP2 CBX1 CTCF EGR1 SP1 NRF1 L3MBTL2 HSALNG0124736 NDUFA13 GATAD2A CILP2 HSALNG0124737 PBX4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CILP2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CILP2

Top Transcription factor binding sites by QIAGEN in the CILP2 gene promoter:
  • ATF6
  • CP2
  • CUTL1
  • E2F
  • E2F-1
  • E47
  • Egr-2
  • HSF1 (long)
  • HSF1short

Genomic Locations for CILP2 Gene

Latest Assembly
chr19:19,538,248-19,546,659
(GRCh38/hg38)
Size:
8,412 bases
Orientation:
Plus strand

Previous Assembly
chr19:19,649,074-19,657,468
(GRCh37/hg19 by Entrez Gene)
Size:
8,395 bases
Orientation:
Plus strand

chr19:19,649,057-19,657,468
(GRCh37/hg19 by Ensembl)
Size:
8,412 bases
Orientation:
Plus strand

Genomic View for CILP2 Gene

Genes around CILP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CILP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CILP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CILP2 Gene

Proteins for CILP2 Gene

  • Protein details for CILP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IUL8-CILP2_HUMAN
    Recommended name:
    Cartilage intermediate layer protein 2
    Protein Accession:
    Q8IUL8
    Secondary Accessions:
    • Q6NV88
    • Q8N4A6
    • Q8WV21

    Protein attributes for CILP2 Gene

    Size:
    1156 amino acids
    Molecular mass:
    126291 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CILP2 Gene

Post-translational modifications for CILP2 Gene

  • May be cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion.
  • Glycosylation at Thr236, Asn276, Asn308, and Asn329
  • Modification sites at PhosphoSitePlus

Other Protein References for CILP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CILP2 Gene

Domains & Families for CILP2 Gene

Gene Families for CILP2 Gene

Protein Domains for CILP2 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin subtype
  • Thrombospondin type 1 repeat signature

Suggested Antigen Peptide Sequences for CILP2 Gene

GenScript: Design optimal peptide antigens:
  • Cartilage intermediate layer protein 2 (CILP2_HUMAN)
genes like me logo Genes that share domains with CILP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CILP2 Gene

Function for CILP2 Gene

Molecular function for CILP2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in cartilage scaffolding.

Phenotypes From GWAS Catalog for CILP2 Gene

Gene Ontology (GO) - Molecular Function for CILP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004035 NOT alkaline phosphatase activity IDA 12746903
GO:0004551 NOT nucleotide diphosphatase activity IDA 12746903
genes like me logo Genes that share ontologies with CILP2: view
genes like me logo Genes that share phenotypes with CILP2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CILP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CILP2 Gene

Localization for CILP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CILP2 Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CILP2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CILP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with CILP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CILP2 Gene

Pathways & Interactions for CILP2 Gene

PathCards logo

SuperPathways for CILP2 Gene

No Data Available

Interacting Proteins for CILP2 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000291495 Q8IUL8-CILP2_HUMAN for CILP2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CILP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016311 dephosphorylation IEA --
genes like me logo Genes that share ontologies with CILP2: view

No data available for Pathways by source and SIGNOR curated interactions for CILP2 Gene

Drugs & Compounds for CILP2 Gene

No Compound Related Data Available

Transcripts for CILP2 Gene

mRNA/cDNA for CILP2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CILP2

Alternative Splicing Database (ASD) splice patterns (SP) for CILP2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b
SP1: - -
SP2: - - -
SP3:
SP4: -

Relevant External Links for CILP2 Gene

GeneLoc Exon Structure for
CILP2

Expression for CILP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CILP2 Gene

mRNA differential expression in normal tissues according to GTEx for CILP2 Gene

This gene is overexpressed in Testis (x14.3).

Protein differential expression in normal tissues from HIPED for CILP2 Gene

This gene is overexpressed in Urine (43.5), Serum (15.2), and Heart (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CILP2 Gene



Protein tissue co-expression partners for CILP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CILP2

SOURCE GeneReport for Unigene cluster for CILP2 Gene:

Hs.279574

mRNA Expression by UniProt/SwissProt for CILP2 Gene:

Q8IUL8-CILP2_HUMAN
Tissue specificity: Expressed in articular chondrocytes but not in knee meniscal cartilage cells (PubMed:12746903). Localizes to the intermediate to deep zone of articular cartilage (PubMed:21880736).

Evidence on tissue expression from TISSUES for CILP2 Gene

  • Nervous system(4.2)
  • Liver(2.1)
genes like me logo Genes that share expression patterns with CILP2: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CILP2 Gene

Orthologs for CILP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CILP2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CILP2 29 30
  • 99.39 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CILP2 29 30
  • 87.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CILP2 29 30
  • 85.93 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cilp2 29
  • 78.36 (n)
Mouse
(Mus musculus)
Mammalia Cilp2 29 16 30
  • 77.64 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CILP2 30
  • 68 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CILP2 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CILP2 29 30
  • 69.99 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CILP2 30
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cilp2 29
  • 56.8 (n)
Zebrafish
(Danio rerio)
Actinopterygii cilp2 29 30
  • 57.06 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 22 (a)
OneToOne
Species where no ortholog for CILP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for CILP2 Gene

ENSEMBL:
Gene Tree for CILP2 (if available)
TreeFam:
Gene Tree for CILP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CILP2: view image
Alliance of Genome Resources:
Additional Orthologs for CILP2

Paralogs for CILP2 Gene

Paralogs for CILP2 Gene

(1) SIMAP similar genes for CILP2 Gene using alignment to 2 proteins:

  • CILP2_HUMAN
  • K7EPJ4_HUMAN
genes like me logo Genes that share paralogs with CILP2: view

Variants for CILP2 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CILP2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CILP2 Gene

Variant ID Type Subtype PubMed ID
nsv509723 CNV insertion 20534489
nsv952426 CNV deletion 24416366

Variation tolerance for CILP2 Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CILP2 Gene

Human Gene Mutation Database (HGMD)
CILP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CILP2
Leiden Open Variation Database (LOVD)
CILP2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CILP2 Gene

Disorders for CILP2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CILP2 Gene - From: COP

Disorder Aliases PubMed IDs
osgood-schlatter's disease
  • juvenile osteochondrosis of tibial tubercle
- elite association - COSMIC cancer census association via MalaCards
Search CILP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CILP2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CILP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CILP2 Gene

Publications for CILP2 Gene

  1. Cartilage intermediate layer protein 2 (CILP-2) is expressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritis. (PMID: 21880736) Bernardo BC … Bateman JF (The Journal of biological chemistry 2011) 2 3 4
  2. One of two chondrocyte-expressed isoforms of cartilage intermediate-layer protein functions as an insulin-like growth factor 1 antagonist. (PMID: 12746903) Johnson K … Terkeltaub R (Arthritis and rheumatism 2003) 3 4 22
  3. Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study. (PMID: 20570916) Keebler ME … Kathiresan S (Circulation. Cardiovascular genetics 2010) 3 40
  4. Polymorphisms at newly identified lipid-associated loci are associated with blood lipids and cardiovascular disease in an Asian Malay population. (PMID: 18987386) Tai ES … Seielstad M (Journal of lipid research 2009) 3 40
  5. Common variants at 30 loci contribute to polygenic dyslipidemia. (PMID: 19060906) Kathiresan S … Cupples LA (Nature genetics 2009) 3 40

Products for CILP2 Gene

Sources for CILP2 Gene