Gene
PRSS56
serine protease 56
- HGNC 39433(opens in a new tab)
- Ensembl gene ENSG00000237412(opens in a new tab)
- NCBI Gene 646960(opens in a new tab)
Summary
- Cytogenetic location
- 2q37.1
- Coordinates
- Chromosome 2: 232,520,388–232,525,716 (GRCh38)
- Exons
- 13 exons across 5.3 kb
- Protein
- 603 amino acids
- MANE Select transcript
- ENST00000617714.2NM_001195129.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Microphthalmia, Anophthalmia & Coloboma
- Isolated Anophthalmia, Microphthalmia & Coloboma
Eye malformations without other features, including nanophthalmos, caused by changes in genes such as VSX2, RAX, MFRP, PRSS56 and others.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
People with nanophthalmos (often MFRP or PRSS56) have a raised risk of angle-closure glaucoma and need regular eye checks; a genetic diagnosis also informs recurrence risk.
How PRSS56 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.2 kb of the gene's 5.3 kb; 1,812 of those bases code for the protein.
How a genome test reads PRSS56
15
positions in PRSS56 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 5.3 kb of PRSS56, introns included, not only the 2.2 kb of exons.
Traits linked to PRSS56
The Human Phenotype Ontology lists these as features of the rare conditions PRSS56 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). PRSS56 gene: serine protease 56. Retrieved 16 October 2026, from https://dantelabs.com/genes/prss56
Dante Labs. PRSS56 gene: serine protease 56 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/prss56
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