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

CILP Gene

protein-coding   GIFtS: 54
GCID: GC15M065488

cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
 Explore 8 diseases affiliated with
CILP via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CILP    

Aliases
for CILP gene

(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, Nucleotide Pyrophosphohydrolase1 2     Cartilage Intermediate Layer Protein 12
HsT188721 2     Cartilage Intermediate Layer Protein 1 C12
Cartilage Intermediate-Layer Protein2 3     Cartilage Intermediate Layer Protein 1 C22
CILP-12 3     

External Ids:    HGNC: 19801   Entrez Gene: 84832   Ensembl: ENSG000001386157   OMIM: 6034895   UniProtKB: O753393   

Export aliases for CILP gene to outside databases

Previous GC identifers: GC15M061331 GC15M058587 GC15M063068 GC15M063204 GC15M063275 GC15M042312


Summaries
for CILP gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CILP:
Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as
osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which increases in early
osteoarthrosis cartilage. The encoded protein was thought to encode a protein precursor for two different proteins; an
N-terminal CILP and a C-terminal homolog of NTPPHase, however, later studies identified no nucleotide pyrophosphatase
phosphodiesterase (NPP) activity. The full-length and the N-terminal domain of this protein was shown to function as
an IGF-1 antagonist. An allelic variant of this gene has been associated with lumbar disc disease. (provided by
RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
Function: Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions.
Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits
ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its
interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote
inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage

Gene Wiki entry for CILP


Genomic Views
for CILP gene

(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_000015.9  NC_018926.1  NT_010194.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CILP gene promoter:
         GR   GR-beta   MyoD   Pax-2   Pax-2a   Tal-1beta   E47   Ik-2   Pax-2b   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CILP promoter sequence
   Search SABiosciences Chromatin IP Primers for CILP

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


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

Entrez Gene cytogenetic band: 15q22   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q22

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

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M065488:  view genomic region     (about GC identifiers)

Start:
 65,488,337 bp from pter      End:
 65,503,840 bp from pter
Size:
 15,504 bases      Orientation:
 minus strand

Proteins
for CILP gene

(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: CILP1_HUMAN, O75339 (See protein sequence)
Recommended Name: Cartilage intermediate layer protein 1 precursor  
Size: 1184 amino acids; 132565 Da
Subunit: Monomer. Interacts with TGFB1
Subcellular location: Secreted, extracellular space, extracellular matrix
Miscellaneous: Antibodies against CILP are detected in patients with early-stage knee osteoarthritis and rheumatoid
arthritis
Caution: Was originally thought to constitute the ATP pyrophosphatase enzyme (NTPPH). However, it was later shown
(PubMed:12746903 and PubMed:15864306) that it is not the case
Secondary accessions: B2R8F7 Q6UW99 Q8IYI5

Explore the universe of human proteins at neXtProt for CILP: NX_O75339

Post-translational modifications:

  • Cleaved into 2 chains possibly by a furin-like protease upon or preceding secretion1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75339

    • CILP Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003604.3  
    ENSEMBL proteins: 
     ENSP00000261883  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for CILP (CILP-1)
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    OriGene Custom Protein Services for CILP 
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    Novus Biologicals CILP Protein
    Novus Biologicals CILP Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CILP

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005615extracellular space IDA9722584
    GO:0031012extracellular matrix IDA9722583
    GO:0044420extracellular matrix part ----


    CILP for ontologies           About GeneDecksing



    CILP Antibody Products: 
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    Uscn Antibodies for CILP
    ThermoFisher Antibodies for CILP

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    Uscn ELISAs and CLIAs for CILP

    Protein Domains /
    Families
    for CILP gene

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

    5/6 InterPro domains/families (see all 6):
     IPR003598 Ig_sub2
     IPR000884 Thrombospondin_1_rpt
     IPR008969 CarboxyPept-like_regulatory
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry O75339

    ProtoNet protein and cluster: O75339

    2 Blocks protein families:
    IPB001451 Bacterial transferase hexapeptide repeat
    IPB003598 Immunoglobulin C-2 type


    UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 1 TSP type-1 domain


    Function
    for CILP gene

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

         UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
    Function: Probably plays a role in cartilage scaffolding. May act by antagonizing TGF-beta1 (TGFB1) and IGF1 functions.
    Has the ability to suppress IGF1-induced proliferation and sulfated proteoglycan synthesis, and inhibits
    ligand-induced IGF1R autophosphorylation. May inhibit TGFB1-mediated induction of cartilage matrix genes via its
    interaction with TGFB1. Overexpression may lead to impair chondrocyte growth and matrix repair and indirectly promote
    inorganic pyrophosphate (PPi) supersaturation in aging and osteoarthritis cartilage

    miRNA
    Products:            		 OriGene 3'-UTR Clone: CILP
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CILP
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate CILP:
    hsa-miR-498 hsa-miR-489 hsa-miR-542-3p hsa-miR-26a hsa-miR-26b hsa-miR-197 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmid: CILP 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CILP (see all 7)
    OriGene shRNA RFP: CILP
    OriGene siRNA: CILP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CILP

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CILP

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CILP (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CILP
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CILP (NM_003613)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CILP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CILP 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for CILP
    LifeMap BioReagents: cell lines associated with CILP: Chondrogenic Package 4D20.8,
    Chondrogenic Package 7PEND24, Chondrogenic Package 7SMOO32, Chondrogenic Package SK11,
    Chondrogenic Package SM30, PureStem 7PEND24, NCr-fac & Meso-prx Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CILP

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004035NOT alkaline phosphatase activity IDA12746903
    GO:0004551NOT nucleotide diphosphatase activity IDA12746903


    CILP for ontologies           About GeneDecksing



    Pathways & Interactions
    for CILP gene

    (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:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CILP

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0043569negative regulation of insulin-like growth factor receptor signaling pathway IDA12746903


    CILP for ontologies           About GeneDecksing



    Drugs & Compounds
    for CILP gene

    (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

    CILP for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CILP

    1 HMDB Compound for CILP    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    1 Novoseek chemical compound relationship for CILP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pyrophosphate 48.1 1 12746903 (1)

    Search CenterWatch for drugs/clinical trials and news about CILP / CILP1 

    Transcripts
    for CILP gene

    (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, 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 CILP gene: 
    NM_003613.3  

    Unigene Cluster for CILP:

    Cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
    Hs.442180  [show with all ESTs]
    Unigene Representative Sequence: NM_003613
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000261883(uc002aon.2)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: CILP
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CILP
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate CILP:
    hsa-miR-498 hsa-miR-489 hsa-miR-542-3p hsa-miR-26a hsa-miR-26b hsa-miR-197 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmid: CILP 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CILP (see all 7)
    OriGene shRNA RFP: CILP
    OriGene siRNA: CILP
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CILP
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CILP
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: CILP (NM_003613)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CILP
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CILP 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CILP
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CILP

    Additional cDNA sequence: 

    AF035408.1 AK225652.1 AK225926.1 AK313352.1 AY358904.1 BC035776.1 

    3 DOTS entries:

    DT.97861916  DT.121038014  DT.99944315 

    24/104 AceView cDNA sequences (see all 104):

    BX110257 BC035776 BQ183826 BQ183831 AW338480 AL698781 BQ044961 AL046238 
    CN479872 NM_003613 BQ045053 BQ045027 BE271514 CN480421 BQ181781 BQ182720 
    BE899230 BQ181388 AW518886 BQ182677 CA448296 BM906477 BQ180861 BQ182098 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for CILP    About this scheme

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


    ECgene alternative splicing isoforms for CILP

    Expression
    for CILP gene

    (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

    CILP expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTTTTGCCCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CILP expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageMeckel's CartilageCartilage CellsCartilage
    CartilageNasal CapsuleCartilage CellsCartilage
    CartilageReichert's CartilageCartilage CellsCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/11 LifeMap Cells (see all 11) 
    NameCategory
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    Micromass-induced chondrocytes (Micromass chondrogen...)Bone, Cartilage
    Intervertebral disc (IVD) annulus fibrosus (AF) cells (Differentiation of s...)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
    TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)Bone, Cartilage

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

    SOURCE GeneReport for Unigene cluster: Hs.442180

    UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
    Tissue specificity: Specifically expressed in cartilage. Localizes in the intermediates layer of articular cartilage
    but neither in the superficial nor in the deepest regions. Specifically and highly expressed in intervertebral disk
    tissue. Expression increases with aging in hip articular cartilage. Overexpressed in articular hyaline cartilage from
    patients with calcium pyrophosphate dihydrate crystal deposition disease (CPPD). Expression in intervertebral disk
    tissue from individuals with lumbar disk disease increases as disk degeneration progresses

        SABiosciences Custom PCR Arrays for CILP
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CILP

    Orthologs
    for CILP gene

    (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 CILP gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves CILP1 cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 68.4(n)
    71.12(a)    		   415533  XM_413902.3  XP_413902.2 
    lizard
    (Anolis carolinensis)    		 Reptilia CILP6
    		 --
    		 67(a)
    		 1 ↔ 1
    		 GL343392.1(197011-219266)
    tropical clawed frog
    (Xenopus tropicalis)    		 Amphibia Str.127212 Transcribed sequence with moderate similarity to protein more 74.53(n)    BX718187.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.276492 Transcribed sequence with weak similarity to protein more 74.25(n)    57055122 


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

    Paralogs
    for CILP gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CILP gene
    CILP22  
    1 SIMAP similar gene for CILP using alignment to 1 protein entry:     CILP1_HUMAN:
    CILP2

    CILP for paralogs           About GeneDecksing



    Genomic Variants
    for CILP gene

    (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

    10/442 NCBI SNPs in CILP are shown (see all 442)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs20737111,2
    		C,F,O,H,other60063164(-) TGTCAC/TAGGTA 2 T I mis137Minor allele frequency- T:0.48EA NA NS WA CSA EU 10406
    rs1417909571,2
    		C,Fother60067459(+) TGCCCG/AGAGGT 2 /R /W mis11Minor allele frequency- A:0.00NA 4550
    rs344471861,2
    		C,--42312728(+) AAATCG/AGGACG 1 -- ds50012Minor allele frequency- A:0.02NA 122
    rs585071761,2
    		C,--42312802(+) CAAACG/AGAAAA 1 -- ds50012Minor allele frequency- A:0.04WA 120
    rs734773531,2
    		C,--42312914(+) AGAGTC/ACCCTG 1 -- ds50012Minor allele frequency- A:0.04WA 120
    rs1123165781,2
    		--42313339(+) TTGGTC/TATTTG 1 -- ut311Minor allele frequency- T:0.50CSA 2
    rs740201801,2
    		C,--42313479(+) TCTTGT/CGTTTC 1 -- ut312Minor allele frequency- C:0.04WA 120
    rs1167170411,2
    		C,F,--42313537(+) GCCACG/ATGCCA 1 -- ut311Minor allele frequency- A:0.07WA 118
    rs617355301,2
    		F--42313917(+) GAGGGC/ATACTC 2 /A /S mis11Minor allele frequency- A:0.10NS 30
    rs774841541,2
    		C,--42314997(+) CTTAAA/CAAAGC 2 V F mis10--------

    HapMap Linkage Disequilibrium report for CILP (65488337 - 65503840 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CILP: --
    Human Gene Mutation Database (HGMD): CILP

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CILP
    DNA2.0 Custom Variant and Variant Library Synthesis for CILP

    Disorders / Diseases
    for CILP gene

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

    OMIM gene information: 603489   
    OMIM disorders: 603932  
    UniProtKB/Swiss-Prot: CILP1_HUMAN, O75339
  • Defects in CILP are a cause of susceptibility to intervertebral disk disease (IDD) [MIM:603932]. A common
    • musculo-skeletal disorder caused by degeneration of intervertebral disks of the lumbar spine. It results in low-back
    pain and unilateral leg pain. Note=Susceptibility to intervertebral disk disease, is conferred by variant p.Ile395Thr
    (PubMed:15864306)

    8 diseases for CILP:    About MalaCards
    lumbar disc disease    lumbar disc degeneration    back pain    lymphangitis
    arthropathy    rheumatoid arthritis    osteoarthritis    arthritis

    2 diseases from the University of Copenhagen DISEASES database for CILP:
    Osteoarthritis     Lymphangitis

    4 Novoseek disease relationships for CILP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lumbar disc disease 87.5 4 15864306 (1), 16413503 (1), 17220213 (1), 19569011 (1)
    calcium pyrophosphate dihydrate crystal deposition disease 83 2 12483726 (1), 12180739 (1)
    musculoskeletal disorder 47.3 1 16413503 (1)
    osteoarthritis 45.8 3 11315923 (1), 16413503 (1)

    Human Genome Epidemiology (HuGE) Navigator: CILP (3 documents)

    Export disorders for CILP gene to outside databases

    Publications
    for CILP gene

    (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 CILP gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with CILP)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and deduced amino acid sequence of a novel cartilage protein (CILP) identifies a proform including a nucleotide pyrophosphohydrolase. (PubMed id 9722584)1, 2, 3, 9 Lorenzo P.... Heinegaerd D. (1998)
    2. A novel cartilage protein (CILP) present in the mid-zone of human articular cartilage increases with age. (PubMed id 9722583)1, 2, 3, 9 Lorenzo P.... Heinegaerd D. (1998)
    3. 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)
    4. Up-regulated expression of cartilage intermediate-layer protein and ANK in articular hyaline cartilage from patients with calcium pyrophosphate dihydrate crystal deposition disease. (PubMed id 12483726)1, 2, 9 Hirose J.... Masuda I. (2002)
    5. A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. (PubMed id 15864306)1, 2, 9 Seki S.... Ikegawa S. (2005)
    6. Implication of cartilage intermediate layer protein in cartilage destruction in subsets of patients with osteoarthritis and rheumatoid arthritis. (PubMed id 11315923)1, 2, 9 Tsuruha J....Nishioka K. (2001)
    7. Genomic organization, mapping, and polymorphisms of the gene encoding human cartilage intermediate layer protein (CILP). (PubMed id 10319588)1, 2, 9 Nakamura I.... Nakamura Y. (1999)
    8. The human CILP gene: exon/intron organization and chromosomal mapping. (PubMed id 10601732)1, 2, 9 Lorenzo P.... Heinegaerd D. (1999)
    9. Characterisation of cartilage intermediate layer protein (CILP)- induced arthropathy in mice. (PubMed id 14962958)1, 2, 9 Yao Z....Kato T. (2004)
    10. The prevalence of autoantibodies against cartilage intermediate layer protein, YKL-39, osteopontin, and cyclic citrullinated peptide in patients with early-stage knee osteoarthritis: evidence of a variety of autoimmune processes. (PubMed id 15378262)1, 2, 9 Du H.... Kato T. (2005)

    External Searches for CILP gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CILP gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8483 HGNC: 1980 AceView: CILP Ensembl:ENSG00000138615 euGenes: HUgn8483
    ECgene: CILP H-InvDB: CILP

    Other Databases showing CILP gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CILP gene

    (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 CILP Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CILP gene

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
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    About This Section

     
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     CILP Proteins, Antibodies, CLIAs, and ELISAs
     Cell Lines associated with CILP: Chondrogenic Package 4D20.8,
    Chondrogenic Package 7PEND24, Chondrogenic Package 7SMOO32, Chondrogenic Package SK11,
    Chondrogenic Package SM30, PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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