PRSS56 (serine protease 56)

Gene
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
646960
Gene name Gene Name - the full gene name approved by the HGNC.
Serine protease 56
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRSS56
Synonyms (NCBI Gene) Gene synonyms aliases
MCOP6
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MCOP6
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
Summary Summary of gene provided in NCBI Entrez 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 microphtha
SNPs SNP information provided by dbSNP.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide all(7)
GO ID Ontology Definition Evidence Reference
GO:0002690 Process Positive regulation of leukocyte chemotaxis IBA 21873635
GO:0004252 Function Serine-type endopeptidase activity ISS
GO:0005615 Component Extracellular space IBA 21873635
GO:0005783 Component Endoplasmic reticulum ISS
GO:0006508 Process Proteolysis ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613858 39433 ENSG00000237412
Protein
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328
View all (29 more)
Microphthalmia MICROPHTHALMIA, ISOLATED 6 rs587776595, rs121908189, rs587776596, rs104894663, rs121909127, rs1603388837, rs121909128, rs121912543, rs121912545, rs730882064, rs387907095, rs387907096, rs397514652, rs397514653, rs78931658
View all (28 more)		 21850159, 21397065, 29450879, 21532570
Microphthalmos Microphthalmos rs794726862, rs1329285216 21532570, 21850159
Myopia Myopia rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805
View all (6 more)		 27182965, 23396134
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Hyperopia Hyperopia GWAS
Show/Hide Text Mining Associations (14)
Associations from Text Mining
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