PRG4 |
- 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)