PRG4 (proteoglycan 4)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10216
Gene name Gene Name - the full gene name approved by the HGNC.
Proteoglycan 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRG4
Synonyms (NCBI Gene) Gene synonyms aliases
CACP, HAPO, JCAP, MSF, SZP
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.1
Summary Summary of gene provided in NCBI Entrez 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 glycosaminogly
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
SNP ID Visualize variation Clinical significance Consequence
rs748663740 C>- Pathogenic Coding sequence variant, frameshift variant
rs776645239 A>G,T Pathogenic Coding sequence variant, stop gained, missense variant
rs780281715 CT>- Pathogenic Coding sequence variant, frameshift variant
rs1258207620 AA>- Pathogenic Coding sequence variant, frameshift variant
rs1475926873 AA>-,AAA Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT021458 hsa-miR-9-5p Microarray 17612493
MIRT1261268 hsa-miR-3144-3p CLIP-seq
MIRT1261269 hsa-miR-3149 CLIP-seq
MIRT1261270 hsa-miR-568 CLIP-seq
MIRT1261271 hsa-miR-875-5p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
GO ID Ontology Definition Evidence Reference
GO:0005044 Function Scavenger receptor activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0006955 Process Immune response IEA
GO:0016192 Process Vesicle-mediated transport IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604283 9364 ENSG00000116690
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q92954
Protein name Proteoglycan 4 (Lubricin) (Megakaryocyte-stimulating factor) (Superficial zone proteoglycan) [Cleaved into: Proteoglycan 4 C-terminal part]
Protein 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 surf
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01033 Somatomedin_B 28 → 67 Somatomedin B domain Family
PF01033 Somatomedin_B 68 → 107 Somatomedin B domain Family
PF00045 Hemopexin 1195 → 1240 Hemopexin Repeat
Tissue specificity 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. {ECO:0000269|PubMed:10545950, ECO:0000
Sequence 
MAWKTLPIYLLLLLSVFVIQQVSSQDLSSCAGRCGEGYSRDATCNCDYNCQHYMECCPDF
KRVCTAELSCKGRCFESFERGRECDCDAQCKKYDKCCPDYESFCAEVHNPTSPPSSKKAP
PPSGASQTIKSTTKRSPKPPNKKKTKKVIESEEITEEHSVSENQESSSSSSSSSSSSTIR
KIKSSKNSAANRELQKKLKVKDNKKNRTKKKPTPKPPVVDEAGSGLDNGDFKVTTPDTST
TQHNKVSTSPKITTAKPINPRPSLPPNSDTSKETSLTVNKETTVETKETTTTNKQTSTDG
KEKTTSAKETQSIEKTSAKDLAPTSKVLAKPTPKAETTTKGPALTTPKEPTPTTPKEPAS
TTPKEPTPTTIKSAPTTPKEPAPTTTKSAPTTPKEPAPTTTKEPAPTTPKEPAPTTTKEP
APTTTKSAPTTPKEPAPTTPKKPAPTTPKEPAPTTPKEPTPTTPKEPAPTTKEPAPTTPK
EPAPTAPKKPAPTTPKEPAPTTPKEPAPTTTKEPSPTTPKEPAPTTTKSAPTTTKEPAPT
TTKSAPTTPKEPSPTTTKEPAPTTPKEPAPTTPKKPAPTTPKEPAPTTPKEPAPTTTKKP
APTTPKEPAPTTPKETAPTTPKKLTPTTPEKLAPTTPEKPAPTTPEELAPTTPEEPTPTT
PEEPAPTTPKAAAPNTPKEPAPTTPKEPAPTTPKEPAPTTPKETAPTTPKGTAPTTLKEP
APTTPKKPAPKELAPTTTKEPTSTTSDKPAPTTPKGTAPTTPKEPAPTTPKEPAPTTPKG
TAPTTLKEPAPTTPKKPAPKELAPTTTKGPTSTTSDKPAPTTPKETAPTTPKEPAPTTPK
KPAPTTPETPPPTTSEVSTPTTTKEPTTIHKSPDESTPELSAEPTPKALENSPKEPGVPT
TKTPAATKPEMTTTAKDKTTERDLRTTPETTTAAPKMTKETATTTEKTTESKITATTTQV
TSTTTQDTTPFKITTLKTTTLAPKVTTTKKTITTTEIMNKPEETAKPKDRATNSKATTPK
PQKPTKAPKKPTSTKKPKTMPRVRKPKTTPTPRKMTSTMPELNPTSRIAEAMLQTTTRPN
QTPNSKLVEVNPKSEDAGGAEGETPHMLLRPHVFMPEVTPDMDYLPRVPNQGIIINPMLS
DETNICNGKPVDGLTTLRNGTLVAFRGHYFWMLSPFSPPSPARRITEVWGIPSPIDTVFT
RCNCEGKTFFFKDSQYWRFTNDIKDAGYPKPIFKGFGGLTGQIVAALSTAKYKNWPESVY
FFKRGGSIQQYIYKQEPVQKCPGRRPALNYPVYGETTQVRRRRFERAIGPSQTHTIRIQY
SPARLAYQDKGVLHNEVKVSILWRGLPNVVTSAISLPNIRKPDGYDYYAFSKDQYYNIDV
PSRTARAITTRSGQTLSKVWYNCP
Sequence length 1404
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome camptodactyly-arthropathy-coxa vara-pericarditis syndrome rs1406678014, rs1571563202, rs748663740, rs780281715, rs1571569884, rs776645239, rs1475926873, rs1258207620, rs1571587012, rs1388040598, rs763025365, rs1571575523, rs387906339 N/A
Show/Hide Text Mining Associations (33)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Aortic Valve Stenosis Stimulate 32168892
Arthritis Associate 36694203
Arthritis Juvenile Associate 35033099
Breast Neoplasms Associate 37268731
Calcinosis Stimulate 32168892
Camptodactyly 1 Associate 27224999, 36694203
Carcinoma Hepatocellular Associate 33199679
Cardiovascular Diseases Associate 32168892
Cartilage Diseases Associate 17343281
Conjunctival Diseases Associate 28975281