PRSS56
Serine Protease 56, Associated with Ocular Development and Myopia
Gene Information Card
| Symbol | PRSS56 |
|---|---|
| Full Name | serine protease 56 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q37.1 |
| NCBI Gene ID | 646960 ncbi.nlm.nih.gov/gene/646960 |
| Ensembl ID | ENSG00000162910 |
| UniProt ID | Q5JZY3 |
| OMIM ID | 613858 |
| HGNC ID | 29323 |
| Aliases | MCOP6, MIRN, SERPINE2, serine protease 56 |
Description
PRSS56 encodes a serine protease that is involved in the regulation of ocular growth and development. Mutations in this gene are associated with autosomal recessive nanophthalmos and high myopia. The protein is expressed in the retina and retinal pigment epithelium, where it modulates the activity of the TGF-beta signaling pathway.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nanophthalmos 6 (MCOP6) | Loss-of-function mutations in PRSS56 disrupt ocular growth regulation, leading to reduced axial length and hyperopia. | OMIM #613858; ClinVar |
| High myopia | PRSS56 variants are associated with increased axial elongation and refractive error. | ClinVar; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Retina | 12.5 | Medium |
| Retinal pigment epithelium | 8.3 | Low |
| Testis | 4.1 | Low |
| Brain | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | 6.7 | Endogenous expression |
| HEK293 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1066C>T (p.Arg356*) | Nonsense | Rare | Loss-of-function; associated with nanophthalmos |
| c.1229G>A (p.Arg410Gln) | Missense | Rare | Reduced enzymatic activity; associated with myopia |
| c.1457G>A (p.Arg486His) | Missense | Rare | Likely pathogenic; reported in ClinVar |
Mutation functional classification
Loss of Function (LOF)
Nonsense and missense mutations that reduce or abolish protease activity lead to nanophthalmos.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • serine-type endopeptidase activity | • proteolysis |
| • extracellular region | • regulation of eye development |
| • negative regulation of transforming growth factor beta receptor signaling pathway |
Pathways
• TGF-beta signaling pathway (modulation)
• Extracellular matrix organization
Protein Summary
PRSS56 is a secreted serine protease of the trypsin family. It is primarily expressed in the eye, where it cleaves extracellular matrix components and modulates TGF-beta signaling to control axial length. The protein contains a signal peptide, a propeptide, and a catalytic domain with the conserved His-Asp-Ser triad.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PRSS56 Knockout HEK293 Cell Line | EDJ-KQ12203 | Human | 646960 | Details Get a Quote |
| PRSS56 Knockout HeLa Cell Line | EDJ-KQ60618 | Human | 646960 | Details Get a Quote |
| PRSS56 Knockout A-549 Cell Line | EDJ-KQ69087 | Human | 646960 | Details Get a Quote |
| PRSS56 Knockout HCT 116 Cell Line | EDJ-KQ77441 | Human | 646960 | Details Get a Quote |
