PRSS56 (serine protease 56)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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 information provided by dbSNP.
7
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (7)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613858 39433 ENSG00000237412
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
103
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
Nanophthalmia Likely pathogenic; Pathogenic rs730882064 RCV001195301
PRSS56-related disorder Likely pathogenic; Pathogenic rs730882064 RCV003407359
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Benign rs2741295 RCV005924423
Show/Hide Text Mining Associations (14)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aicardi Goutieres syndrome Associate 32996714
Colorectal Neoplasms Associate 39670663
Eye Abnormalities Associate 23468642
Glaucoma 3 Primary Congenital A Associate 39337513
Hyperopia Associate 32996714, 33203948
Kenny Caffey syndrome type 2 Associate 32996714
Microphthalmos Associate 31992737, 32052405
Myopia Associate 23468642
Nanophthalmos 1 Associate 31992737, 32052405, 32996714, 33203948
Nanophthalmos 2 Associate 31992737