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

PRG4 Gene

protein-coding   GIFtS: 57
GCID: GC01P186265

proteoglycan 4

(Previous names: proteoglycan 4, (megakaryocyte stimulating factor, articular...)
(Previous symbol: CACP)
 Explore 14 diseases affiliated with
PRG4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PRG4    

Aliases
for PRG4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Proteoglycan 41 2     Superficial Zone Proteoglycan2 3
MSF1 2 3 5     FLJ326351
SZP1 2 3 5     Proteoglycan 4, (Megakaryocyte Stimulating Factor, Articular Superficial Zone
Protein, Camptodactyly, Arthropathy, Coxa Vara, Pericarditis Syndrome)1
CACP1 2 5     Articular Superficial Zone Protein2
HAPO1 2 5     BG174L6.2 (MSF: Megakaryocyte Stimulating Factor )2
JCAP1 2     Lubricin3
BG174L6.21     Megakaryocyte Stimulating Factor2
Megakaryocyte-Stimulating Factor2 3     Lubricin3

External Ids:    HGNC: 93641   Entrez Gene: 102162   Ensembl: ENSG000001166907   OMIM: 6042835   UniProtKB: Q929543   

Export aliases for PRG4 gene to outside databases

Previous GC identifers: GC01P183791 GC01P181693 GC01P182785 GC01P183504 GC01P182997 GC01P184532 GC01P157499


Summaries
for PRG4 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 PRG4:
The protein encoded by this gene is a large proteoglycan specifically synthesized by chondrocytes located at the
surface of articular cartilage, and also by some synovial lining cells. This protein contains both chondroitin sulfate
and keratan sulfate glycosaminoglycans. It functions as a boundary lubricant at the cartilage surface and contributes
to the elastic absorption and energy dissipation of synovial fluid. Mutations in this gene result in
camptodactyly-arthropathy-coxa vara-pericarditis syndrome. Multiple transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PRG4_HUMAN, Q92954
Function: Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage
from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to
the cartilage surface
Function: Isoform F plays a role as a growth factor acting on the primitive cells of both hematopoietic and endothelial
cell lineages

Gene Wiki entry for PRG4


Genomic Views
for PRG4 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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRG4 gene promoter:
         TBP   Tal-1beta   LCR-F1   C/EBPalpha   PPAR-gamma1   POU2F1   POU2F1a   HFH-1   PPAR-gamma2   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PRG4 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRG4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRG4


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

Entrez Gene cytogenetic band: 1q25-q31   Ensembl cytogenetic band:  1q31.1   HGNC cytogenetic band: 1q25-q31

PRG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRG4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P186265:  view genomic region     (about GC identifiers)

Start:
 186,265,405 bp from pter      End:
 186,283,694 bp from pter
Size:
 18,290 bases      Orientation:
 plus strand

Proteins
for PRG4 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: PRG4_HUMAN, Q92954 (See protein sequence)
Recommended Name: Proteoglycan 4 precursor  
Size: 1404 amino acids; 151077 Da
Subunit: Homodimer; disulfide-linked (By similarity)
Subcellular location: Secreted
Miscellaneous: Different forms varying in molecular weight have been observed. Such forms are possibly due to different
levels of glycosylation and protein cleavage (By similarity)
Secondary accessions: Q6DNC4 Q6DNC5 Q6ZMZ5 Q9BX49
Alternative splicing: 6 isoforms:  Q92954-1   Q92954-2   Q92954-3   Q92954-4   Q92954-5   Q92954-6   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PRG4: NX_Q92954

Post-translational modifications:

  • N-glycosylated1
  • O-glycosylated; contains glycosaminoglycan chondroitin sulfate and keratan sulfate1
  • The disulfide bond between Cys-1146 and Cys-1403 is essential for protein cleavage (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q92954

    • PRG4 Protein expression data from MOPED and PaxDb:    About this image 
    PRG4 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001121180.1  NP_001121181.1  NP_001121182.1  NP_005798.2  

    ENSEMBL proteins: 
     ENSP00000431330   ENSP00000356452   ENSP00000356453   ENSP00000356455   ENSP00000399679  
     ENSP00000356456   ENSP00000356454  

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    Uscn Proteins for PRG4

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    PRG4 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for PRG4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PRG4 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000585 Hemopexin/matrixin
     IPR018486 Hemopexin/matrixin_CS
     IPR018487 Hemopexin/matrixin_repeat
     IPR001212 Somatomedin_B_dom
     IPR020436 Somatomedin_B_chordata

    Graphical View of Domain Structure for InterPro Entry Q92954

    ProtoNet protein and cluster: Q92954

    1 Blocks protein family: IPB002400 Growth factor cystine knot superfamily signature

    UniProtKB/Swiss-Prot: PRG4_HUMAN, Q92954
    Similarity: Contains 2 hemopexin-like domains
    Similarity: Contains 2 SMB (somatomedin-B) domains


    Function
    for PRG4 gene

    (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: PRG4_HUMAN, Q92954
    Function: Plays a role in boundary lubrication within articulating joints. Prevents protein deposition onto cartilage
    from synovial fluid by controlling adhesion-dependent synovial growth and inhibiting the adhesion of synovial cells to
    the cartilage surface
    Function: Isoform F plays a role as a growth factor acting on the primitive cells of both hematopoietic and endothelial
    cell lineages

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005044scavenger receptor activity IEA--
    GO:0030247polysaccharide binding IEA--
         
    PRG4 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Prg4):
     behavior/neurological  cardiovascular system  limbs/digits/tail  skeleton 

    PRG4 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Prg4tm1Mawa for PRG4
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for PRG4 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRG4
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate PRG4:
    hsa-miR-3163 hsa-miR-3662 hsa-miR-4282 hsa-miR-1257 hsa-miR-4280
    SwitchGear 3'UTR luciferase reporter plasmid: PRG4 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: PRG4
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    Gene Editing
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    Clone
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    Cell Line
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    LifeMap BioReagents: cell lines associated with PRG4: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
    PureStem MEL2, NCr-fac Progenitor, PureStem SK11, NCr-fac & Meso-prx Progenitor
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRG4


    Pathways & Interactions
    for PRG4 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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    2Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    3PTEN Pathway
    		PTEN Pathway1.00
    		Phospholipase-C Pathway0.56

    5/13 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PRG4 (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PRG4

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    3 Interacting proteins for PRG4 (Q929542, 3 ENSP000003564524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    --P310162MINT-8108622
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response IEA--
    GO:0008283cell proliferation TAS10545950

    PRG4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for PRG4 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

    PRG4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PRG4
    6 Novoseek chemical compound relationships for PRG4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyaluronic acid 61.6 25 18181652 (7), 19556078 (4), 9570073 (2), 11461663 (1) (see all 5)
    keratan sulfate 53.5 4 11518279 (1)
    alginate 30.8 3 17676563 (2)
    latex 29.2 2 12441670 (1), 10743795 (1)
    hydroxyapatite 22.6 4 16088901 (1), 16779825 (1)
    cisplatin 12.3 18 10545950 (6), 15702367 (4), 16429407 (2)

    Search CenterWatch for drugs/clinical trials and news about PRG4 

    Transcripts
    for PRG4 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, 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 PRG4 gene (4 alternative transcripts): 
    NM_001127708.1  NM_001127709.1  NM_001127710.1  NM_005807.3  

    Unigene Cluster for PRG4:

    Proteoglycan 4
    Hs.647723  [show with all ESTs]
    Unigene Representative Sequence: NM_005807
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533951 ENST00000367482 ENST00000367483(uc001grt.4 uc010poo.2)
    ENST00000367485 ENST00000445192(uc001gru.4) ENST00000367486(uc009wyl.3 uc009wym.3)
    ENST00000367484

    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate PRG4:
    hsa-miR-3163 hsa-miR-3662 hsa-miR-4282 hsa-miR-1257 hsa-miR-4280
    SwitchGear 3'UTR luciferase reporter plasmid: PRG4 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: PRG4
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    Clone
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    Additional cDNA sequence: 

    AK057197.1 AK131434.1 AK297718.1 AK301343.1 AK301487.1 AK308235.1 U70136.1 

    8 DOTS entries:

    DT.99947504  DT.91758574  DT.100751817  DT.448411  DT.100036340  DT.100036341  DT.121407500  DT.91874004 

    24/62 AceView cDNA sequences (see all 62):

    BQ044944 CA447409 BQ183014 AY653037 CA396776 CR595257 BX369690 BQ287976 
    BP344692 AA345199 CA435357 BG926128 H82331 AI925428 AK131434 CD252435 
    CB269032 BX646781 CB270451 U70136 BG618358 AL555058 AY653038 BF696575 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for PRG4    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                                                                          
    SP2:                                                                                          
    SP3:        -                                                                                 
    SP4:        -           -                                                                     


    ECgene alternative splicing isoforms for PRG4

    Expression
    for PRG4 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

    PRG4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGTATACCAG
    PRG4 Expression
    About this image

    PRG4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageMeckel's CartilageCartilage CellsCartilage
    CartilageNasal CapsuleCartilage CellsCartilage
    CartilageReichert's CartilageCartilage CellsCartilage
    CartilageTemporomandibular JointDisc CellsBone, Cartilage
    HeartMyocardiumMature Cardiac FibroblastsEpicardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/12 LifeMap Cells (see all 12) 
    NameCategory
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Intervertebral disc (IVD) annulus fibrosus (AF) cells (Differentiation of s...)Cartilage
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced MEL2 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
    HyStem+TGF?3+GDF5-induced 7PEND24 cells (HyStem+TGF?3+GDF5 in...)Bone
    HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    See PRG4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PRG4

    SOURCE GeneReport for Unigene cluster: Hs.647723

    UniProtKB/Swiss-Prot: PRG4_HUMAN, Q92954
    Tissue specificity: Highly expressed in synovial tissue, cartilage and liver and weakly in heart and lung. Isoform B is
    expressed in kidney, lung, liver, heart and brain. Isoform C and isoform D are widely expressed

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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRG4

    Orthologs
    for PRG4 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 PRG4 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Prg41 , 5 proteoglycan 4 (megakaryocyte stimulating factor, articular more1, 5 70.67(n)1
    63.85(a)1    		   1 (63.84 cM)5
    968751  NM_021400.31  NP_067375.31 
     1504498165 
    chicken
    (Gallus gallus)    		 Aves PRG46
    		 Uncharacterized protein
    		 54(a)
    		 1 ↔ 1
    		 8(10224492-10228116)
    lizard
    (Anolis carolinensis)    		 Reptilia PRG46
    		 --
    		 30(a)
    		 1 ↔ 1
    		 GL343203.1(2499731-2541851)
    zebrafish
    (Danio rerio)    		 Actinopterygii prg4a1 proteoglycan 4a 52.53(n)
    43.54(a)    		   336351  NM_212753.1  NP_997918.1 


    ENSEMBL Gene Tree for PRG4 (if available)
    TreeFam Gene Tree for PRG4 (if available) 

    Paralogs
    for PRG4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PRG4 gene
    VTN2  ENSG000002588522  
    1 SIMAP similar gene for PRG4 using alignment to 4 protein entries:     PRG4_HUMAN (see all proteins):
    VTN

    PRG4 for paralogs           About GeneDecksing



    Genomic Variants
    for PRG4 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

    10/397 NCBI SNPs in PRG4 are shown (see all 397)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs66985941,2
    		C,F--157498002(+) GTCTAC/TGTAGA 4 -- us2k11Minor allele frequency- T:0.17WA 118
    rs66743221,2
    		C,F,A--157498104(+) CTATCA/GGCTGT 4 -- us2k11Minor allele frequency- G:0.17WA 118
    rs725031441,2
    		C--157499095(+) GAGAT-/CMYTTT 4 -- us2k10--------
    rs765658611,2
    		F--157499145(+) TGATTG/AGAATT 4 -- us2k11Minor allele frequency- A:0.06WA 118
    rs765081231,2
    		F--157499228(+) GATACA/GTTCCG 4 -- us2k11Minor allele frequency- G:0.17WA 118
    rs775332111,2
    		--157500069(+) TTTTTG/TAAAAG 4 -- int10--------
    rs795369131,2
    		F--157500488(+) GAGATG/TAAAGA 4 -- int11Minor allele frequency- T:0.08WA 118
    rs109118441,2
    		--157500504(+) TTTCTG/AATACT 4 -- int11Minor allele frequency- A:0.01WA 118
    rs802438871,2
    		F--157500703(+) AACAAC/AGGAAA 4 -- int11Minor allele frequency- A:0.25WA 118
    rs766388451,2
    		F--157501429(+) GATTCA/TTGACA 4 -- int11Minor allele frequency- T:0.05WA 118

    HapMap Linkage Disequilibrium report for PRG4 (186265405 - 186283694 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for PRG4
         8 Indels: 84712 74816 84714 84710 74817 84711 74815 84713
    Human Gene Mutation Database (HGMD): PRG4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PRG4
    DNA2.0 Custom Variant and Variant Library Synthesis for PRG4

    Disorders / Diseases
    for PRG4 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
    PRG4 for disorders           About GeneDecksing

    OMIM gene information: 604283   
    OMIM disorders: 208250  
    UniProtKB/Swiss-Prot: PRG4_HUMAN, Q92954
  • Defects in PRG4 are the cause of camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP)
    • [MIM:208250]; also known as Jacobs syndrome. CACP is an autosomal recessive disorder. Individuals with CACP have
    normal appearing joints at birth but with advancing age develop joint failure associated with noninflammatory
    synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule

    14 diseases for PRG4:    About MalaCards
    camptodactyly-arthropathy-coxa vara-pericarditis syndrome    pericarditis    arthropathy    myxoid liposarcoma
    liposarcoma    rheumatoid arthritis    gestational diabetes    synovitis
    osteoarthritis    hepatitis b    arthritis    hyperglycemia
    hepatitis    sarcoma

    5 diseases from the University of Copenhagen DISEASES database for PRG4:
    Gestational diabetes     Pericarditis     Hyperglycemia     Osteoarthritis
    Arthropathy

    6 Novoseek disease relationships for PRG4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cacp syndrome 96 12 15702367 (3), 10545950 (2), 15719068 (1), 16000300 (1) (see all 5)
    osteoarthritis 62.6 6 10743795 (1), 11461663 (1), 17106881 (1), 17343281 (1)
    synovitis 42 1 15702367 (1)
    rheumatoid arthritis 28 5 15142643 (2), 11461663 (1)
    inflammation 0 3 9920774 (1), 12475643 (1)
    tumors 0 3 17373642 (1), 18512776 (1)

    Human Genome Epidemiology (HuGE) Navigator: PRG4 (2 documents)

    Export disorders for PRG4 gene to outside databases

    Publications
    for PRG4 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 PRG4 gene, integrated from 9 sources (see all 80):
    (articles sorted by number of sources associating them with PRG4)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Articular cartilage superficial zone protein (SZP) is homologous to megakaryocyte stimulating factor precursor and is a multifunctional proteoglycan with potential growth-promoting, cytoprotective, and lubricating properties in cartilage metabolism. (PubMed id 9920774)1, 2, 3, 9 Flannery C.R.... Caterson B. (1999)
    2. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly- arthropathy-coxa vara-pericarditis syndrome. (PubMed id 10545950)1, 2, 3, 9 Marcelino J.... Warman M.L. (1999)
    3. Lubricin is a product of megakaryocyte stimulating factor gene expression by human synovial fibroblasts. (PubMed id 10743795)1, 2, 9 Jay G.D.... Cha C.-J. (2000)
    4. Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes. (PubMed id 11124536)1, 2, 9 Ikegawa S.... Nakamura Y. (2000)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. Hemangiopoietin, a novel human growth factor for the primitive cells of both hematopoietic and endothelial cell lineages. (PubMed id 14976050)1, 2 Liu Y.J.... Han Z.C. (2004)
    9. A novel proteoglycan synthesized and secreted by chondrocytes of the superficial zone of articular cartilage. (PubMed id 8185311)1, 2 Schumacher B.L....Kuettner K.E. (1994)
    10. The role of lubricin in the mechanical behavior of synovial fluid. (PubMed id 17404241)1, 9 Jay G.D....Breuer K.S. (2007)

    External Searches for PRG4 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 PRG4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 10216 HGNC: 9364 AceView: PRG4 Ensembl:ENSG00000116690 euGenes: HUgn10216
    ECgene: PRG4 H-InvDB: PRG4

    Other Databases showing PRG4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PRG4 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 PRG4 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PRG4 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PRG4

    Intellectual Property
    for PRG4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PRG4 gene:
    Search GeneIP for patents involving PRG4

    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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     PRG4 Proteins, Antibodies, CLIAs, and ELISAs
     Cell Lines associated with PRG4: PureStem 7PEND24, NCr-fac & Meso-prx Progenitor,
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