PRSS56 (serine protease 56)

Gene

• Entrez ID: 646960
• Gene name: Serine protease 56
• Gene symbol: PRSS56
• Synonyms (NCBI Gene): MCOP6
• Chromosome: 2
• Chromosome location: 2q37.1
• Summary: 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 microphtha

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs387907095	G>C	Pathogenic	Coding sequence variant, missense variant
rs387907096	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs730882064	C>-,CC	Pathogenic	Coding sequence variant, frameshift variant
rs730882158	G>A	Pathogenic	Missense variant, coding sequence variant
rs730882159	->G	Pathogenic	Coding sequence variant, frameshift variant
rs730882160	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs730882161	T>C	Pathogenic	Missense variant, coding sequence variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	ISS
GO:0005615	Component	Extracellular space	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	ISS
GO:0007596	Process	Blood coagulation	IBA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IMP	21397065

Other IDs

• MIM: 613858
• HGNC: 39433
• e!Ensembl: ENSG00000237412

Protein

• UniProt ID: P0CW18
• Protein name: Serine protease 56 (EC 3.4.21.-)
• Protein function: Serine protease required during eye development.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00089	Trypsin	105 → 332	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed neural retina, cornea, sclera and optic nerve. {ECO:0000269|PubMed:21397065}.
• Sequence:

  MLLAVLLLLPLPSSWFAHGHPLYTRLPPSALQVLSAQGTQALQAAQRSAQWAINRVAMEI
  QHRSHECRGSGRPRPQALLQDPPEPGPCGERRPSTANVTRAHGRIVGGSAAPPGAWPWLV
  RLQLGGQPLCGGVLVAASWVLTAAHCFVGAPNELLWTVTLAEGSRGEQAEEVPVNRILPH
  PKFDPRTFHNDLALVQLWTPVSPGGSARPVCLPQEPQEPPAGTACAIAGWGALFEDGPEA
  EAVREARVPLLSTDTCRRALGPGLRPSTMLCAGYLAGGVDSCQGDSGGPLTCSEPGPRPR
  EVLFGVTSWGDGCGEPGKPGVYTRVAVFKDWLQEQMSASSSREPSCRELLAWDPPQELQA
  DAARLCAFYARLCPGSQGACARLAHQQCLQRRRRCELRSLAHTLLGLLRNAQELLGPRPG
  LRRLAPALALPAPALRESPLHPARELRLHSGSRAAGTRFPKRRPEPRGEANGCPGLEPLR
  QKLAALQGAHAWILQVPSEHLAMNFHEVLADLGSKTLTGLFRAWVRAGLGGRHVAFSGLV
  GLEPATLARSLPRLLVQALQAFRVAALAEGEPEGPWMDVGQGPGLERKGHHPLNPQVPPA
  RQP

• Sequence length: 603

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Isolated microphthalmia 6	Pathogenic; Likely pathogenic	rs730882064, rs1218404300, rs1430615320, rs780960251, rs730882158, rs730882159, rs730882160, rs730882161, rs730882162, rs1041798789, rs2469701504, rs387907095, rs387907096, rs1418002054, rs1691258244	RCV001782685 RCV001807968 RCV001905543 RCV002004776 RCV000162038 RCV000162040 RCV000162041 RCV000162042 RCV000162043 RCV002904335 RCV003640499 RCV000024073 RCV000024075 RCV000024076 RCV001255867 RCV001199357	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nanophthalmia	Likely pathogenic; Pathogenic	rs730882064	RCV001195301	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRSS56-related disorder	Likely pathogenic; Pathogenic	rs730882064	RCV003407359	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANGLE CLOSURE GLAUCOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CYSTIC EYEBALL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EYE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLAUCOMA, ANGLE-CLOSURE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 6	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMOS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOPIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NANOPHTHALMOS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	32996714	Associate	★☆☆☆☆ Found in Text Mining only
Angle Closure Glaucoma	Angle Closure Glaucoma	BEFREE	21532570, 24227917		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angle Closure Glaucoma	Angle Closure Glaucoma	CTD_human_DG	21532570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39670663	Associate	★☆☆☆☆ Found in Text Mining only
Eye Abnormalities	Eye abnormalities	Pubtator	23468642	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	39337513	Associate	★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	BEFREE	24227917, 29529029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	Pubtator	32996714, 33203948	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 6	Microphthalmia	GENOMICS_ENGLAND_DG	21397065, 29450879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 6	Microphthalmia	UNIPROT_DG	21397065, 21532570, 21850159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 6	Microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICROPHTHALMIA, ISOLATED 6	Microphthalmia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	BEFREE	21397065, 21532570, 21850159, 24227917, 25357075, 31266062		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	CTD_human_DG	21532570		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	ORPHANET_DG	21850159		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	Pubtator	31992737, 32052405	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microphthalmos	Microphthalmos	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	CTD_human_DG	23396134		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	Pubtator	23468642	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	BEFREE	25357075, 25587058, 27440996, 29529029		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopia	Myopia	GWASCAT_DG	27182965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nanophthalmos	Nanophthalmos	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nanophthalmos 1	Nanophthalmos	Pubtator	31992737, 32052405, 32996714, 33203948	Associate	★☆☆☆☆ Found in Text Mining only
Nanophthalmos 2	Nanophthalmos	Pubtator	31992737	Associate	★☆☆☆☆ Found in Text Mining only
Primary angle-closure glaucoma	Angle closure glaucoma	BEFREE	24227917		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	31992737	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only