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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CILP2 Gene

protein-coding   GIFtS: 47
GCID: GC19P019649

cartilage intermediate layer protein 2

 Explore 3 diseases affiliated with
CILP2 via our new
 Human Malady Compendium 
Biological research products
for CILP2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Cartilage Intermediate Layer Protein 21 2
CILP-22 3
MGC457711
CLIP-22
Cartilage Intermediate Layer Protein-Like Protein 22

External Ids:    HGNC: 242131   Entrez Gene: 1481132   Ensembl: ENSG000001601617   OMIM: 6124195   UniProtKB: Q8IUL83   

Export aliases for CILP2 gene to outside databases

Previous GC identifers: GC19P019473 GC19P019511 GC19P019211


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: CILP2_HUMAN, Q8IUL8
Function: May play a role in cartilage scaffolding (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CILP2 gene promoter:
         HSF1 (long)   CUTL1   E47   Egr-2   E2F-1   CP2   E2F   HSF1short   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CILP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for CILP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CILP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.11

CILP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CILP2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P019649:  view genomic region     (about GC identifiers)

Start:
19,649,057 bp from pter      End:
19,657,468 bp from pter
Size:
8,412 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CILP2_HUMAN, Q8IUL8 (See protein sequence)
Recommended Name: Cartilage intermediate layer protein 2 precursor  
Size: 1156 amino acids; 126291 Da
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: Q6NV88 Q8N4A6 Q8WV21

Explore the universe of human proteins at neXtProt for CILP2: NX_Q8IUL8

Post-translational modifications:

  • May be cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IUL8

  • CILP2 Protein expression data from MOPED and PaxDb:    About this image 
    CILP2 Protein Expression
    REFSEQ proteins: NP_694953.2  
    ENSEMBL proteins: 
     ENSP00000291495   ENSP00000467413  

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    Uscn Proteins for CILP2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--

    CILP2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for CILP2


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    CILP2 for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR013784 Carb-bd-like_fold
     IPR008969 CarboxyPept-like_regulatory
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry Q8IUL8

    ProtoNet protein and cluster: Q8IUL8

    3 Blocks protein families:
    IPB003598 Immunoglobulin C-2 type
    IPB003599 Immunoglobulin subtype
    IPB008085 Thrombospondin type 1 repeat signature


    UniProtKB/Swiss-Prot: CILP2_HUMAN, Q8IUL8
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 TSP type-1 domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CILP2_HUMAN, Q8IUL8
    Function: May play a role in cartilage scaffolding (By similarity)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004035NOT alkaline phosphatase activity IDA12746903
    GO:0004180carboxypeptidase activity ----
    GO:0004551NOT nucleotide diphosphatase activity IDA12746903
    GO:0030246carbohydrate binding IEA--
         
    CILP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CILP2:
     Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CILP2 

    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CILP2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CILP2
    Search CenterWatch for drugs/clinical trials and news about CILP2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CILP2 gene: 
    NM_153221.2  

    Unigene Cluster for CILP2:

    Cartilage intermediate layer protein 2
    Hs.279574  [show with all ESTs]
    Unigene Representative Sequence: AK127735
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000291495(uc002nmv.4 uc002nmw.4) ENST00000586018 ENST00000588333


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    hsa-miR-29c hsa-miR-29a hsa-miR-486-3p hsa-miR-29b
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    Inhib. RNA
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    Additional cDNA sequence: 

    AF542080.1 AK127735.1 AK314213.1 BC018939.2 BC034926.1 BC068256.1 

    3 DOTS entries:

    DT.100031141  DT.101976170  DT.97844737 

    24/27 AceView cDNA sequences (see all 27):

    BC018939 AK127735 BC034926 BQ181405 BQ181948 BI196652 BQ182788 BG929309 
    BC068256 BX112879 BG928970 NM_153221 BX280777 BQ181896 AF542080 BQ181874 
    BQ181998 CN479743 AI073387 BF353731 BI559947 CO245313 BF313161 BF310577 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CILP2    About this scheme

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


    ECgene alternative splicing isoforms for CILP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CILP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGGGGGAGGC
    CILP2 Expression
    About this image

    CILP2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    Articular chondrocyte-like cells (HyStem chondrogenic ...)Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced 7SMOO32 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)Bone
    TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)Bone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CILP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CILP2

    SOURCE GeneReport for Unigene cluster: Hs.279574

    UniProtKB/Swiss-Prot: CILP2_HUMAN, Q8IUL8
    Tissue specificity: Expressed in articular chondrocytes but not in knee meniscal cartilage cells

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CILP2 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cilp21 , 5 cartilage intermediate layer protein 21, 5 77.65(n)1
    80.16(a)1
      8 (34.01 cM)5
    687091  NM_026818.21  NP_081094.21 
     698803695 
    chicken
    (Gallus gallus)
    Aves CILP21 cartilage intermediate layer protein 2 69.94(n)
    65.52(a)
      430666  XM_003643398.1  XP_003643446.1 
    lizard
    (Anolis carolinensis)
    Reptilia CILP26
    --
    63(a)
    1 ↔ 1
    GL344325.1(35082-43874)
    zebrafish
    (Danio rerio)
    Actinopterygii cilp21 cartilage intermediate layer protein 2 56.57(n)
    56.61(a)
      557778  XM_680899.3  XP_685991.3 


    ENSEMBL Gene Tree for CILP2 (if available)
    TreeFam Gene Tree for CILP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CILP2 gene
    CILP2  
    1 SIMAP similar gene for CILP2 using alignment to 2 protein entries:     CILP2_HUMAN (see all proteins):
    CILP

    CILP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/189 NCBI SNPs in CILP2 are shown (see all 189    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1118822301,2
    F--19647173(+) CTCCTT/AGGCTG 3 -- int1 us2k12Minor allele frequency- A:0.50CSA 4
    rs1509693711,2
    --19647183(+) GAAAGC/TGGAGG 3 -- int1 us2k10--------
    rs285539751,2
    C,F--19647205(+) GGTGAC/TGGAGG 3 -- int1 us2k15Minor allele frequency- T:0.37WA CSA 124
    rs48089691,2
    C,F,H--19647460(+) tccagC/Tctggg 3 -- us2k1 int13Minor allele frequency- T:0.30NA 10
    rs1899982081,2
    --19647793(+) GAGGGC/TGATTG 3 -- int1 us2k10--------
    rs2022109991,2
    --19648089(+) GCCACC/TCTCCC 3 -- int1 us2k10--------
    rs10549301,2
    C,F,A,H--19648346(+) CCGCGG/CCCACA 3 -- us2k1 ut3111Minor allele frequency- C:0.40MN NA WA CSA EA 554
    rs1917521011,2
    C--19648381(+) AGCCCC/TCCCAC 3 -- us2k1 ut310--------
    rs1812581811,2
    --19648405(+) CCTCCA/GCCTCC 3 -- us2k1 ds50010--------
    rs1846931021,2
    --19648519(+) GACTTA/CCCGCT 3 -- ds5001 us2k10--------

    HapMap Linkage Disequilibrium report for CILP2 (19649057 - 19657468 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CILP2: --

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    CILP2 for disorders           About GeneDecksing

    OMIM gene information: 612419    OMIM disorders: --

    3 diseases for CILP2:    About MalaCards
    hypertriglyceridemia    osteoarthritis    cholesterol

    Human Genome Epidemiology (HuGE) Navigator: CILP2 (6 documents)

    Export disorders for CILP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CILP2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with CILP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. One of two chondrocyte-expressed isoforms of cartilage intermediate- layer protein functions as an insulin-like growth factor 1 antagonist. (PubMed id 12746903)1, 2, 9 Johnson K.... Terkeltaub R. (2003)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    4. Cartilage intermediate layer protein 2 (CILP-2) is ex pressed in articular and meniscal cartilage and down-regulated in experimental osteoarthritis. (PubMed id 21880736)1 Bernardo B.C....Bateman J.F. (2011)
    5. Triglyceride level-influencing functional variants of the ANGPTL3, CILP2, and TRIB1 loci in ischemic stroke. (PubMed id 21691831)1 JA!romi L....Melegh B. (2011)
    6. Sex-specific association of rs16996148 SNP in the NCAN /CILP2/PBX4 and serum lipid levels in the Mulao and Han populations. (PubMed id 22208664)1 Yan T.T....Pan S.L. (2011)
    7. Genetic variants influencing circulating lipid levels and risk of coronary artery disease. (PubMed id 20864672)1 Waterworth D.M....Sandhu M.S. (2010)
    8. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
    9. Pharmacogenetic analysis of lipid responses to rosuva statin in Chinese patients. (PubMed id 20679960)1 Hu M....Tomlinson B. (2010)
    10. Fine-mapping in African Americans of 8 recently disco vered genetic loci for plasma lipids: the Jackson Heart Study. (PubMed id 20570916)1 Keebler M.E....Kathiresan S. (2010)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 148113 HGNC: 24213 AceView: CILP2 Ensembl:ENSG00000160161 euGenes: HUgn148113
    ECgene: CILP2 H-InvDB: CILP2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CILP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CILP2 gene:
    Search GeneIP for patents involving CILP2

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