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Aliases for PRG4 Gene

Aliases for PRG4 Gene

  • Proteoglycan 4 2 3 5
  • Lubricin 2 3 4
  • Articular Superficial Zone Protein 2 3
  • Megakaryocyte Stimulating Factor 2 3
  • Superficial Zone Proteoglycan 3 4
  • MSF 3 4
  • SZP 3 4
  • Proteoglycan 4, (Megakaryocyte Stimulating Factor, Articular Superficial Zone Protein, Camptodactyly, Arthropathy, Coxa Vara, Pericarditis Syndrome) 2
  • Camptodactyly, Arthropathy, Coxa Vara, Pericarditis Syndrome 2
  • Jacobs Camptodactyly-Arthropathy-Pericarditis Syndrome 2
  • BG174L6.2 (MSF: Megakaryocyte Stimulating Factor ) 2
  • Megakaryocyte-Stimulating Factor 4
  • Hemangiopoietin 3
  • HAPO 3
  • JCAP 3
  • CACP 3

External Ids for PRG4 Gene

Previous HGNC Symbols for PRG4 Gene

  • CACP

Previous GeneCards Identifiers for PRG4 Gene

  • GC01P183791
  • GC01P181693
  • GC01P182785
  • GC01P183504
  • GC01P182997
  • GC01P184532
  • GC01P157499

Summaries for PRG4 Gene

Entrez Gene Summary for PRG4 Gene

  • The protein encoded by this gene is a large proteoglycan that is synthesized by chondrocytes located at the surface of articular cartilage and 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for PRG4 Gene

PRG4 (Proteoglycan 4) is a Protein Coding gene. Diseases associated with PRG4 include Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome and Pericarditis. Among its related pathways are Phospholipase-C Pathway and ERK Signaling. GO annotations related to this gene include scavenger receptor activity and polysaccharide binding. An important paralog of this gene is VTN.

UniProtKB/Swiss-Prot for PRG4 Gene

  • 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.

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRG4 Gene

Genomics for PRG4 Gene

Regulatory Elements for PRG4 Gene

Enhancers for PRG4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G186182 1.4 Ensembl ENCODE dbSUPER 5.1 -112.8 -112842 2.4 PKNOX1 NFIB INSM2 BMI1 ZBTB40 RAD21 FOS RCOR1 ZNF362 CEBPB PRG4 ENSG00000224691 LOC105371654
GH01G185559 1.4 FANTOM5 Ensembl ENCODE 4.5 -735.8 -735818 1.5 HDAC1 ATF1 PKNOX1 WRNIP1 RAD21 TCF12 GATA2 ETV6 IKZF2 CREM LINC01350 IVNS1ABP PRG4 GC01M185557 GC01P185628
GH01G186177 0.6 dbSUPER 5.6 -117.3 -117290 2.3 MTA2 NR2F1 CEBPB JUNB DPF2 ARID3A SMARCA4 ZNF512 PRG4 ENSG00000224691 LOC105371654
GH01G186288 0.9 ENCODE 0.4 -7.8 -7758 0.2 HDAC1 ATF1 ARNT TCF12 GATA2 SMARCA5 ZBTB11 CEBPB NCOA1 ZEB2 RNU6-1240P PRG4 PIR58262
GH01G186302 0.7 ENCODE 0.4 +8.7 8660 3.9 CTCF PKNOX1 KLF1 FOXA2 RAD21 YY1 ZNF664 CTBP1 GATA3 FOXK2 C1orf27 PRG4 GC01M186318 RNU6-1240P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRG4 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRG4 Gene

Chromosome:
1
Start:
186,296,273 bp from pter
End:
186,314,562 bp from pter
Size:
18,290 bases
Orientation:
Plus strand

Genomic View for PRG4 Gene

Genes around PRG4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRG4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRG4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRG4 Gene

Proteins for PRG4 Gene

  • Protein details for PRG4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92954-PRG4_HUMAN
    Recommended name:
    Proteoglycan 4
    Protein Accession:
    Q92954
    Secondary Accessions:
    • Q6DNC4
    • Q6DNC5
    • Q6ZMZ5
    • Q9BX49

    Protein attributes for PRG4 Gene

    Size:
    1404 amino acids
    Molecular mass:
    151077 Da
    Quaternary structure:
    • Homodimer; disulfide-linked.
    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).

    Alternative splice isoforms for PRG4 Gene

neXtProt entry for PRG4 Gene

Post-translational modifications for PRG4 Gene

  • N-glycosylated (PubMed:16335952).
  • O-glycosylated; contains glycosaminoglycan chondroitin sulfate and keratan sulfate. O-glycosylated with sialylated oligosaccharides which are predominantly represented by the monosialylated core type I structure, NeuNAcalpha2-3Galbeta1-3GalNAc, with smaller amounts of disialylated O-glycans (PubMed:25187573).
  • The disulfide bond between Cys-1146 and Cys-1403 is essential for protein cleavage.
  • Glycosylation at Ser123, Ser136, Asn206, posLast=240240, posLast=253253, posLast=277277, posLast=291291, posLast=305305, posLast=306306, posLast=310310, posLast=317317, Thr324, Thr332, posLast=338338, Thr367, Thr376, posLast=384384, posLast=385385, Ser388, Thr391, posLast=399399, Thr407, Thr408, Thr415, posLast=423423, posLast=427427, posLast=430430, Thr438, posLast=439439, Thr446, posLast=447447, Thr454, posLast=455455, posLast=477477, Thr478, posLast=485485, Thr493, posLast=494494, posLast=501501, posLast=502502, posLast=509509, posLast=525525, posLast=529529, posLast=532532, Thr540, Thr541, posLast=553553, Thr555, Thr563, Thr564, Thr571, Thr572, posLast=579579, posLast=580580, posLast=587587, posLast=588588, posLast=595595, Thr603, posLast=604604, posLast=611611, Thr612, posLast=616616, Thr619, Thr627, posLast=676676, posLast=683683, Thr684, posLast=691691, Thr692, Thr699, Thr700, posLast=704704, posLast=707707, Thr723, posLast=724724, Thr736, posLast=768768, posLast=769769, Thr776, posLast=777777, posLast=792792, Thr793, posLast=805805, Ser812, posLast=829829, Thr837, posLast=838838, posLast=892892, Thr900, Thr930, posLast=931931, Ser962, posLast=963963, posLast=968968, posLast=975975, posLast=978978, Thr979, Thr980, Thr1039, posLast=11591159, and posLast=11611161
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PRG4 Gene

Domains & Families for PRG4 Gene

Suggested Antigen Peptide Sequences for PRG4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PRG4: view

No data available for Gene Families and UniProtKB/Swiss-Prot for PRG4 Gene

Function for PRG4 Gene

Molecular function for PRG4 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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) - Molecular Function for PRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005044 scavenger receptor activity IEA --
GO:0030247 polysaccharide binding IEA --
genes like me logo Genes that share ontologies with PRG4: view
genes like me logo Genes that share phenotypes with PRG4: view

Human Phenotype Ontology for PRG4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PRG4 Gene

miRTarBase miRNAs that target PRG4

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PRG4 Gene

Localization for PRG4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRG4 Gene

Secreted.

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 PRG4 gene
Compartment Confidence
extracellular 5
nucleus 2
cytosol 2
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with PRG4: view

Pathways & Interactions for PRG4 Gene

genes like me logo Genes that share pathways with PRG4: view

Pathways by source for PRG4 Gene

Interacting Proteins for PRG4 Gene

Gene Ontology (GO) - Biological Process for PRG4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006898 receptor-mediated endocytosis IEA --
GO:0006955 immune response IEA --
GO:0008283 cell proliferation TAS 10545950
genes like me logo Genes that share ontologies with PRG4: view

No data available for SIGNOR curated interactions for PRG4 Gene

Drugs & Compounds for PRG4 Gene

(2) Drugs for PRG4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for PRG4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRG4: view

Transcripts for PRG4 Gene

Unigene Clusters for PRG4 Gene

Proteoglycan 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRG4 Gene

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

Relevant External Links for PRG4 Gene

GeneLoc Exon Structure for
PRG4
ECgene alternative splicing isoforms for
PRG4

Expression for PRG4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRG4 Gene

mRNA differential expression in normal tissues according to GTEx for PRG4 Gene

This gene is overexpressed in Liver (x14.2), Adipose - Visceral (Omentum) (x8.5), Heart - Atrial Appendage (x5.0), and Adipose - Subcutaneous (x4.9).

Protein differential expression in normal tissues from HIPED for PRG4 Gene

This gene is overexpressed in Synovial fluid (27.2), Serum (16.7), Monocytes (14.7), and Plasma (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PRG4 Gene



NURSA nuclear receptor signaling pathways regulating expression of PRG4 Gene:

PRG4

SOURCE GeneReport for Unigene cluster for PRG4 Gene:

Hs.647723

mRNA Expression by UniProt/SwissProt for PRG4 Gene:

Q92954-PRG4_HUMAN
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.

Evidence on tissue expression from TISSUES for PRG4 Gene

  • Blood(4.4)
  • Bone marrow(4)
  • Urine(4)
  • Liver(3.3)
  • Nervous system(3.2)
  • Muscle(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRG4 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • ear
Thorax:
  • heart
  • heart valve
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • femur
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
genes like me logo Genes that share expression patterns with PRG4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for PRG4 Gene

Orthologs for PRG4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRG4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRG4 34
  • 96.8 (n)
cow
(Bos Taurus)
Mammalia PRG4 34 35
  • 81.51 (n)
rat
(Rattus norvegicus)
Mammalia Prg4 34
  • 79.21 (n)
dog
(Canis familiaris)
Mammalia PRG4 35
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prg4 35
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRG4 35
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRG4 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRG4 35
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRG4 35
  • 29 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii prg4a 35
  • 33 (a)
OneToMany
prg4b 35
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 20 (a)
OneToMany
Species where no ortholog for PRG4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRG4 Gene

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

Paralogs for PRG4 Gene

Paralogs for PRG4 Gene

(1) SIMAP similar genes for PRG4 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with PRG4: view

Variants for PRG4 Gene

Sequence variations from dbSNP and Humsavar for PRG4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000075687 -- 186,304,973(+) ACAAT(G/T)ATTAT intron-variant
rs1000369554 -- 186,298,374(+) GAGAC(C/G/T)CTGTC intron-variant
rs1000826948 -- 186,296,205(+) TGTCT(A/C)ACCTT upstream-variant-2KB
rs1000899197 -- 186,296,384(+) GGAAA(G/T)TTTTG intron-variant, upstream-variant-2KB
rs1000995992 -- 186,312,063(+) TTATA(C/T)GAAAA intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PRG4 Gene

Variant ID Type Subtype PubMed ID
esv3575361 CNV gain 25503493
esv3890826 CNV gain 25118596
nsv952543 CNV deletion 24416366

Variation tolerance for PRG4 Gene

Residual Variation Intolerance Score: 93.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.96; 91.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRG4 Gene

Human Gene Mutation Database (HGMD)
PRG4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRG4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRG4 Gene

Disorders for PRG4 Gene

MalaCards: The human disease database

(9) MalaCards diseases for PRG4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
  • camptodactyly arthropathy coxa vara pericarditis syndrome
pericarditis
arthropathy
  • ankylosis of ankle and foot joint
pericardium disease
47,xyy syndrome
  • camptodactyly-arthropathy-coxa vara-pericarditis syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PRG4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRG4_HUMAN
  • Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) [MIM:208250]: An autosomal recessive disorder characterized by the association of congenital or early-onset camptodactyly and non-inflammatory arthropathy with synovial hyperplasia. Individuals with CACP have normal appearing joints at birth but with advancing age develop joint failure, non-inflammatory synoviocyte hyperplasia and subintimal fibrosis of the synovial capsule. Some patients also manifest progressive coxa vara deformity and/or non-inflammatory pericardial or pleural effusions. {ECO:0000269 PubMed:10545950}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRG4

Genetic Association Database (GAD)
PRG4
Human Genome Epidemiology (HuGE) Navigator
PRG4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRG4
genes like me logo Genes that share disorders with PRG4: view

No data available for Genatlas for PRG4 Gene

Publications for PRG4 Gene

  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. (PMID: 9920774) Flannery C.R. … Caterson B. (Biochem. Biophys. Res. Commun. 1999) 2 3 4 22 64
  2. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly- arthropathy-coxa vara-pericarditis syndrome. (PMID: 10545950) Marcelino J. … Warman M.L. (Nat. Genet. 1999) 2 3 4 22 64
  3. Lubricin is a product of megakaryocyte stimulating factor gene expression by human synovial fibroblasts. (PMID: 10743795) Jay G.D. … Cha C.-J. (J. Rheumatol. 2000) 3 4 22 64
  4. Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes. (PMID: 11124536) Ikegawa S. … Nakamura Y. (Cytogenet. Cell Genet. 2000) 3 4 22 64
  5. The O-glycomap of lubricin, a novel mucin responsible for joint lubrication, identified by site-specific glycopeptide analysis. (PMID: 25187573) Ali L. … Karlsson N.G. (Mol. Cell Proteomics 2014) 3 4 64

Products for PRG4 Gene

Sources for PRG4 Gene

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