• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PRG4 (HGNC:9364) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
proteoglycan 4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CACP
Alias symbols
JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635
%HI
84.91(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.74(Read more about gnomAD LOEUF score)
Cytoband
1q31.1
Genomic Coordinates
GRCh37/hg19: chr1:186265405-186283699 NCBI Ensembl UCSC
GRCh38/hg38: chr1:186296273-186314567 NCBI Ensembl UCSC
MANE Select Transcript
NM_005807.6 ENST00000445192.7 (Read more about MANE Select)
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. Isoform F plays a role as a growth factor acting on the primitive cells of both hematopoietic and endothelial cell lineages. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-31300
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • camptodactyly-arthropathy-coxa vara-pericarditis syndrome Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)