Proteoglycan 4

Alternative Names

  • PRG4
  • Megakaryocyte-Stimulating Factor
  • MSF
  • CACP Gene
  • CACP
  • Superficial Zone Protein
  • SZP
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OMIM Number

604283

NCBI Gene ID

10216

Uniprot ID

Q92954

Length

18,290 bases

No. of Exons

13

No. of isoforms

6

Protein Name

Proteoglycan 4

Molecular Mass

151061 Da

Amino Acid Count

1404

Genomic Location

chr1:186,296,273-186,314,562

Gene Map Locus
1q31.1

Description

PRG4 gene encodes 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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_005807.4:c.3254_3260dupUnited Arab EmiratesNC_000001.11:g.186308959CCAAACT[4]Likely Pathogenic, PathogenicPathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeNG_008248.2:g.17674CCAAACT[4]; NM_005807.4:c.3254_3260dup; NP_005798.3:p.Val1088GlnfsTer4769917456974887
NM_005807.6:c.1320dupUnited Arab EmiratesNC_000001.11:g.186307039dupPathogenicLikely Pathogenic, PathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeNG_008248.2:g.15754dup; NM_005807.6:c.1320dup; NP_005798.3:p.Lys441GlnfsTer1981557943002987918
NM_005807.6:c.3125_3128delSaudi Arabiachr1:186308844-186308847Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeNG_008248.2:g.17559_17562; NM_005807.6:c.3125_3128del; NP_005798.3:p.Val1043Glufs*12
NM_005807.6:c.3139_3140del Saudi Arabiachr1:186308858-186308859PathogenicPathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeNG_008248.2:g.17573_17574del; NM_005807.6:c.3139_3140del; NP_005798.3:p.Lys1047fs1571575523800914
NM_005807.6:c.3277_3278del Saudi Arabiachr1:186308996-186308997PathogenicPathogenicCamptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeNG_008248.2:g.17711_17712del; NM_005807.6:c.3277_3278del ; NP_005798.3:p.Lys1093fs1258207620684666
NM_005807.6:c.4078A>TSaudi Arabiachr1:186312855Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeNG_008248.2:g.21570A>T; NM_005807.6:c.4078A>T; NP_005798.3:p.Arg1360Ter
NM_005807.6:c.923_924delSaudi Arabiachr1:186306642-186306643Camptodactyly-Arthropathy-Coxa Vara-Pericarditis SyndromeNG_008248.2:g.15357_15358del; NM_005807.6:c.923_924del; NP_005798.3:p.Lys308fs763637434
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