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Gene

PRG4

proteoglycan 4

Summary

Cytogenetic location
1q31.1
Coordinates
Chromosome 1: 186,296,279–186,314,567 (GRCh38)
Exons
13 exons across 18.3 kb
Protein
1,404 amino acids
Inheritance
Autosomal recessive
Also known as
JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635
Previous symbols
CACP
MANE Select transcript
ENST00000445192.7NM_005807.6
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Inherited Arthropathies

    • Camptodactyly-arthropathy-coxa vara-pericarditis syndromeAutosomal recessive

      Bent fingers from birth, non-inflammatory joint swelling, hip deformity and sometimes pericarditis, caused by PRG4 (lubricin) deficiency.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PRG4 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PRG4 sits. PRG4 and 5 genes near it on chromosome 1, from 185,805,423 to 186,805,422.Chromosome 11q31.1p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44186 Mb186.2 Mb186.4 Mb186.6 Mb186.8 MbHMCN1: 185,734,371–186,190,949, forward strandHMCN1PRG4: 186,296,279–186,314,567, forward strandPRG4TPR: 186,311,188–186,375,693, reverse strandTPRODR4: 186,375,401–186,421,408, forward strandODR4PDC: 186,443,566–186,461,114, reverse strandPDCPTGS2: 186,671,791–186,680,922, reverse strandPTGS2Diagram of PRG4: 13 exons on the forward strand of chromosome 1Exon 2: 3 known disease-causing sitesExon 4: 1 known disease-causing siteExon 6: 1 known disease-causing siteExon 7: 14 known disease-causing sitesExon 8: 3 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 11: 1 known disease-causing siteExon 12: 2 known disease-causing sitesExon 1: 186,296,279–186,296,293, 15 basesExon 2: 186,296,846–186,296,951, 106 basesExon 3: 186,300,091–186,300,213, 123 basesExon 4: 186,301,592–186,301,711, 120 basesExon 5: 186,304,108–186,304,257, 150 basesExon 6: 186,304,794–186,304,922, 129 basesExon 7: 186,306,318–186,309,140, 2,823 basesExon 8: 186,309,793–186,309,870, 78 basesExon 9: 186,311,034–186,311,170, 137 basesExon 10: 186,311,440–186,311,596, 157 basesExon 11: 186,312,175–186,312,372, 198 basesExon 12: 186,312,769–186,312,894, 126 basesExon 13: 186,313,681–186,314,567, 887 bases123456789101112135′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 5 kb of the gene's 18.3 kb; 4,215 of those bases code for the protein.

How a genome test reads PRG4

28

positions in PRG4 where ClinVar classes a change as pathogenic or likely pathogenic

1 of them (3.6%) falls in a region short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.

A whole genome covers all 18.3 kb of PRG4, introns included, not only the 5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PRG4 gene: proteoglycan 4. Retrieved 16 October 2026, from https://dantelabs.com/genes/prg4

Vancouver

Dante Labs. PRG4 gene: proteoglycan 4 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prg4

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