Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PRSS56 Gene

Aliases for PRSS56 Gene

  • Protease, Serine 56 2 3 5
  • Putative Serine Protease 56 3
  • Protease, Serine, 56 3
  • EC 3.4.21.- 4
  • MCOP6 3

External Ids for PRSS56 Gene

Previous GeneCards Identifiers for PRSS56 Gene

  • GC02U902398
  • GC02P233389

Summaries for PRSS56 Gene

Entrez Gene Summary for PRSS56 Gene

  • This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [provided by RefSeq, Dec 2011]

GeneCards Summary for PRSS56 Gene

PRSS56 (Protease, Serine 56) is a Protein Coding gene. Diseases associated with PRSS56 include Microphthalmia, Isolated 6 and Isolated Microphthalmia. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is ST14.

UniProtKB/Swiss-Prot for PRSS56 Gene

  • Serine protease required during eye development.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRSS56 Gene

Genomics for PRSS56 Gene

Regulatory Elements for PRSS56 Gene

Enhancers for PRSS56 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PRSS56 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRSS56 Gene

232,520,463 bp from pter
232,525,716 bp from pter
5,254 bases
Plus strand

Genomic View for PRSS56 Gene

Genes around PRSS56 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS56 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRSS56 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS56 Gene

Proteins for PRSS56 Gene

  • Protein details for PRSS56 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Serine protease 56
    Protein Accession:

    Protein attributes for PRSS56 Gene

    603 amino acids
    Molecular mass:
    64597 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRSS56 Gene

Proteomics data for PRSS56 Gene at MOPED

Post-translational modifications for PRSS56 Gene

Other Protein References for PRSS56 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRSS56 Gene

Domains & Families for PRSS56 Gene

Gene Families for PRSS56 Gene

Protein Domains for PRSS56 Gene

Suggested Antigen Peptide Sequences for PRSS56 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family.
  • Contains 1 peptidase S1 domain.
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PRSS56: view

Function for PRSS56 Gene

Molecular function for PRSS56 Gene

UniProtKB/Swiss-Prot Function:
Serine protease required during eye development.

Enzyme Numbers (IUBMB) for PRSS56 Gene

Phenotypes for PRSS56 Gene

genes like me logo Genes that share phenotypes with PRSS56: view

Human Phenotype Ontology for PRSS56 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRSS56 Gene

Localization for PRSS56 Gene

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for PRSS56 Gene

Pathways & Interactions for PRSS56 Gene

SuperPathways for PRSS56 Gene

No Data Available

Interacting Proteins for PRSS56 Gene

Gene Ontology (GO) - Biological Process for PRSS56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0043010 camera-type eye development IEA,IMP 21397065
genes like me logo Genes that share ontologies with PRSS56: view

No data available for Pathways by source and SIGNOR curated interactions for PRSS56 Gene

Drugs & Compounds for PRSS56 Gene

No Compound Related Data Available

Transcripts for PRSS56 Gene

mRNA/cDNA for PRSS56 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRSS56 Gene

Protease, serine, 56:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS56 Gene

No ASD Table

Relevant External Links for PRSS56 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PRSS56 Gene

mRNA expression in normal human tissues for PRSS56 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRSS56 Gene

This gene is overexpressed in Muscle - Skeletal (x13.0), Brain - Hypothalamus (x10.0), and Testis (x7.6).

Protein differential expression in normal tissues from HIPED for PRSS56 Gene

This gene is overexpressed in Stomach (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRSS56 Gene

SOURCE GeneReport for Unigene cluster for PRSS56 Gene Hs.570310

mRNA Expression by UniProt/SwissProt for PRSS56 Gene

Tissue specificity: Expressed neural retina, cornea, sclera and optic nerve.
genes like me logo Genes that share expression patterns with PRSS56: view

Protein tissue co-expression partners for PRSS56 Gene

Orthologs for PRSS56 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRSS56 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PRSS56 35
  • 86.35 (n)
  • 85.34 (a)
(Canis familiaris)
Mammalia PRSS56 35
  • 86.43 (n)
  • 86.2 (a)
PRSS56 36
  • 85 (a)
(Mus musculus)
Mammalia Prss56 35
  • 80.31 (n)
  • 81.16 (a)
Prss56 16
Prss56 36
  • 79 (a)
(Pan troglodytes)
Mammalia PRSS56 35
  • 99.28 (n)
  • 99.34 (a)
(Rattus norvegicus)
Mammalia Prss56 35
  • 79.64 (n)
  • 79.01 (a)
(Monodelphis domestica)
Mammalia PRSS56 36
  • 35 (a)
(Ornithorhynchus anatinus)
Mammalia PRSS56 36
  • 66 (a)
(Gallus gallus)
Aves PRSS56 35
  • 62.33 (n)
  • 54.41 (a)
PRSS56 36
  • 47 (a)
(Anolis carolinensis)
Reptilia PRSS56 36
  • 56 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia prss56 35
  • 55.87 (n)
  • 51.3 (a)
(Danio rerio)
Actinopterygii PRSS56 36
  • 31 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004571 35
  • 51.93 (n)
  • 44.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG4914 35
  • 49.36 (n)
  • 41.7 (a)
CG11668 36
  • 18 (a)
CG11670 36
  • 17 (a)
CG11836 36
  • 31 (a)
CG11841 36
  • 22 (a)
CG11842 36
  • 22 (a)
CG11843 36
  • 24 (a)
CG1299 36
  • 18 (a)
CG14642 36
  • 19 (a)
CG14892 36
  • 19 (a)
CG18735 36
  • 30 (a)
CG31728 36
  • 14 (a)
CG32260 36
  • 16 (a)
CG3355 36
  • 29 (a)
CG34350 36
  • 10 (a)
CG3700 36
  • 21 (a)
CG4386 36
  • 26 (a)
CG4613 36
  • 24 (a)
CG4914 36
  • 28 (a)
CG4927 36
  • 22 (a)
CG6361 36
  • 12 (a)
CG6865 36
  • 28 (a)
CG7432 36
  • 14 (a)
CG8172 36
  • 17 (a)
CG8213 36
  • 6 (a)
CG9294 36
  • 26 (a)
CG9372 36
  • 22 (a)
psh 36
  • 18 (a)
Sb 36
  • 12 (a)
snk 36
  • 18 (a)
spirit 36
  • 20 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7246 36
  • 11 (a)
Species with no ortholog for PRSS56:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRSS56 Gene

Gene Tree for PRSS56 (if available)
Gene Tree for PRSS56 (if available)

Paralogs for PRSS56 Gene

genes like me logo Genes that share paralogs with PRSS56: view

Variants for PRSS56 Gene

Sequence variations from dbSNP and Humsavar for PRSS56 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
VAR_065076 Microphthalmia, isolated, 6 (MCOP6)
VAR_065077 Microphthalmia, isolated, 6 (MCOP6)
VAR_069226 Microphthalmia, isolated, 6 (MCOP6)
rs74703359 Microphthalmia, isolated, 6 (MCOP6) 232,523,470(+) GAGAG(G/T)TCCTG reference, missense
VAR_069228 Microphthalmia, isolated, 6 (MCOP6)

Structural Variations from Database of Genomic Variants (DGV) for PRSS56 Gene

Variant ID Type Subtype PubMed ID
nsv522450 CNV Loss 19592680
nsv821918 CNV Gain 20364138
nsv875977 CNV Loss 21882294
nsv875998 CNV Loss 21882294
nsv527789 CNV Loss 19592680
nsv876000 CNV Gain 21882294
dgv4453n71 CNV Loss 21882294
dgv4454n71 CNV Loss 21882294
nsv3211 CNV Insertion 18451855

Variation tolerance for PRSS56 Gene

Gene Damage Index Score: 3.57; 56.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRSS56 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS56 Gene

Disorders for PRSS56 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PRSS56 Gene - From: OMIM, ClinVar, GeneTests, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, isolated 6
  • isolated microphthalmia 6
isolated microphthalmia
  • microphthalmia, isolated 6
  • microphthalmos
- elite association - COSMIC cancer census association via MalaCards


  • Microphthalmia, isolated, 6 (MCOP6) [MIM:613517]: A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone. {ECO:0000269 PubMed:21397065, ECO:0000269 PubMed:21532570, ECO:0000269 PubMed:21850159}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRSS56

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PRSS56: view

No data available for Genatlas for PRSS56 Gene

Publications for PRSS56 Gene

  1. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. (PMID: 21397065) Gal A. … Rosenberg T. (Am. J. Hum. Genet. 2011) 2 3 4 67
  2. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. (PMID: 21532570) Nair K.S. … John S.W. (Nat. Genet. 2011) 2 3
  3. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3
  4. Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. (PMID: 23127749) Nowilaty S.R. … Alkuraya F.S. (Am. J. Ophthalmol. 2013) 3
  5. Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. (PMID: 23396134) Verhoeven V.J. … Hammond C.J. (Nat. Genet. 2013) 3

Products for PRSS56 Gene

Sources for PRSS56 Gene