Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10216
Gene name	Proteoglycan 4
Gene symbol	PRG4
Synonyms (NCBI Gene)	CACPHAPOJCAPMSFSZP
Chromosome	1
Chromosome location	1q31.1
Summary	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

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
rs1571563202	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571569884	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571575523	AA>-	Pathogenic	Coding sequence variant, frameshift variant

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

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
GO:0030021	Function	Extracellular matrix structural constituent conferring compression resistance	RCA	25037231, 27559042
GO:0030247	Function	Polysaccharide binding	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27559042
GO:0031012	Component	Extracellular matrix	IBA

MIM	HGNC	e!Ensembl
604283	9364	ENSG00000116690

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the skeletal system	Likely pathogenic	rs1271513895	RCV001814416	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Likely pathogenic; Pathogenic	rs773621375, rs772404077, rs1657377652, rs2102031816, rs2102025845, rs2102028973, rs748999850, rs2102020754, rs763025365, rs387906339, rs2526383275, rs2526394168, rs1284076232, rs2526450332, rs2526327036 View all (15 more)	RCV002499597 RCV005009163 RCV001784877 RCV001784878 RCV001784879 View all (26 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CAMPTODACTYLY-ARTHROPATHY-COXA-VARA-PERICARDITIS SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTRACTURE	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPLASIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERICARDITIS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRG4-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY MALIGNANT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PRG4 (proteoglycan 4)