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Aliases for PRG4 Gene

Aliases for PRG4 Gene

  • Proteoglycan 4 2 3 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 ERK Signaling and Integrin Pathway. Gene Ontology (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

Additional gene information 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

GeneHancer (GH) Regulatory Elements for PRG4 Gene

Promoters and enhancers for PRG4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J186182 Enhancer 1.1 Ensembl ENCODE dbSUPER 5.1 -112.8 -112842 2.4 PKNOX1 IRF2 JUN MAX EBF1 BATF ZNF316 POLR2A ZFP91 ATF7 PRG4 ENSG00000224691 LOC105371654 HMCN1
GH01J185559 Enhancer 1.2 FANTOM5 Ensembl ENCODE 4.5 -735.8 -735818 1.5 CTCF PKNOX1 ESRRA MAX CEBPG BATF IRF4 RAD21 CTBP1 ZNF143 GC01M185557 LINC01350 IVNS1ABP PRG4 GC01P185628
GH01J186177 Enhancer 0.6 dbSUPER 5.6 -117.3 -117289 2.3 NR2F1 CEBPB JUNB MEF2B DPF2 BATF ZNF217 GATA3 ZNF512 PRDM10 ENSG00000224691 PRG4 LOC105371654 HMCN1
GH01J186288 Enhancer 0.9 ENCODE 0.4 -7.8 -7757 0.2 HDAC1 ATF1 ARNT TCF12 SMARCA5 ZBTB11 CEBPB NCOA1 ZEB2 ATF4 RNU6-1240P PRG4 PIR58262
GH01J186302 Enhancer 0.7 ENCODE 0.4 +8.7 8660 3.9 MEIS2 CTCF KLF1 PKNOX1 FOXA2 EBF1 RAD21 CTBP1 GATA3 FOXK2 ODR4 GC01M186321 PRG4 RNU6-1240P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRG4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PRG4 gene promoter:
  • TBP
  • PPAR-gamma2
  • PPAR-gamma1
  • HFH-1
  • LCR-F1
  • C/EBPalpha
  • Tal-1beta
  • ITF-2
  • POU2F1
  • POU2F1a

Genomic Locations for PRG4 Gene

Genomic Locations for PRG4 Gene
chr1:186,296,273-186,314,562
(GRCh38/hg38)
Size:
18,290 bases
Orientation:
Plus strand
chr1:186,265,405-186,283,694
(GRCh37/hg19)
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:
    151061 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 Thr1161, posLast=11591159, posLast=10391039, Thr980, posLast=979979, posLast=978978, posLast=975975, posLast=968968, Thr963, posLast=962962, Thr931, posLast=930930, Thr900, posLast=892892, Thr838, Thr837, Thr829, Ser812, Thr805, Thr793, posLast=792792, Thr777, posLast=776776, Thr769, posLast=768768, posLast=736736, Thr724, Thr723, posLast=707707, posLast=704704, Thr700, posLast=699699, posLast=692692, posLast=691691, posLast=684684, Thr683, posLast=676676, posLast=627627, posLast=619619, posLast=616616, Thr612, posLast=611611, Thr604, posLast=603603, Thr595, posLast=588588, Thr587, Thr580, Thr579, Thr572, posLast=571571, Thr564, posLast=563563, Thr555, Ser553, Thr541, posLast=540540, Thr532, posLast=529529, Thr525, posLast=509509, Thr502, Thr501, Thr494, Thr493, posLast=485485, posLast=478478, posLast=477477, posLast=455455, posLast=454454, posLast=447447, posLast=446446, posLast=439439, posLast=438438, Thr430, posLast=427427, posLast=423423, posLast=415415, Thr408, Thr407, Thr399, posLast=391391, Ser388, posLast=385385, posLast=384384, posLast=376376, posLast=367367, posLast=338338, Thr332, Thr324, Ser317, posLast=310310, posLast=306306, Thr305, Thr291, Thr277, Thr253, posLast=240240, posLast=206206, posLast=136136, and posLast=123123
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • PRG4_HUMAN (762)

No data available for DME Specific Peptides for PRG4 Gene

Domains & Families for PRG4 Gene

Gene Families for PRG4 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

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 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.

Phenotypes From GWAS Catalog for PRG4 Gene

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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRG4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , 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 --
GO:0031012 extracellular matrix IDA 27559042
genes like me logo Genes that share ontologies with PRG4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRG4 Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRG4

Clone 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 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
Regions:
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

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 33
  • 96.8 (n)
cow
(Bos Taurus)
Mammalia PRG4 34 33
  • 81.51 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prg4 33
  • 79.21 (n)
dog
(Canis familiaris)
Mammalia PRG4 34
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Prg4 34
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRG4 34
  • 50 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRG4 34
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRG4 34
  • 34 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRG4 34
  • 29 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii prg4a 34
  • 33 (a)
OneToMany
prg4b 34
  • 32 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PRG4: view image

Paralogs for PRG4 Gene

Paralogs for PRG4 Gene

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

  • PRG4_HUMAN
  • E7EQ48_HUMAN
  • E9PLR3_HUMAN
  • J3KP74_HUMAN
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 Variation AA Info Type
rs387906339 pathogenic, Camptodactyly arthropathy coxa vara pericarditis syndrome 186,313,753(+) CC/AG coding_sequence_variant, stop_gained
rs1000075687 -- 186,304,973(+) G/T intron_variant
rs1000369554 -- 186,298,374(+) T/C/G intron_variant
rs1000826948 -- 186,296,205(+) A/C upstream_transcript_variant
rs1000899197 -- 186,296,384(+) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant

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)

Additional Variant Information for PRG4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PRG4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PRG4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for PRG4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 CR … Caterson B (Biochemical and biophysical research communications 1999) 2 3 4 22 58
  2. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxa vara-pericarditis syndrome. (PMID: 10545950) Marcelino J … Warman ML (Nature genetics 1999) 2 3 4 22 58
  3. Isolation, characterization and mapping of the mouse and human PRG4 (proteoglycan 4) genes. (PMID: 11124536) Ikegawa S … Nakamura Y (Cytogenetics and cell genetics 2000) 3 4 22 58
  4. Lubricin is a product of megakaryocyte stimulating factor gene expression by human synovial fibroblasts. (PMID: 10743795) Jay GD … Cha CJ (The Journal of rheumatology 2000) 3 4 22 58
  5. The O-glycomap of lubricin, a novel mucin responsible for joint lubrication, identified by site-specific glycopeptide analysis. (PMID: 25187573) Ali L … Karlsson NG (Molecular & cellular proteomics : MCP 2014) 3 4 58

Products for PRG4 Gene

Sources for PRG4 Gene

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