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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 nameGene Name - the full gene name approved by the HGNC.
Serine protease 56
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
PRSS56
SynonymsGene synonyms aliases
MCOP6
ChromosomeChromosome number
2
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q37.1
SummarySummary 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
SNPsSNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Associated diseases
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
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 IDsOther 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
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
Sequence 
MLLAVLLLLPLPSSWFAHGHPLYTRLPPSALQVLSAQGTQALQAAQRSAQWAINRVAMEI
QHRSHECRGSGRPRPQALLQDPPEPGPCGERRPSTANVTRAHGRIVGGSAAPPGAWPWLV
RLQLGGQPLCGGVLVAASWVLTAAHCFVGAPNELLWTVTLAEGSRGEQAEEVPVNRILPH
PKFDPRTFHNDLALVQLWTPVSPGGSARPVCLPQEPQEPPAGTACAIAGWGALFEDGPEA
EAVREARVPLLSTDTCRRALGPGLRPSTMLCAGYLAGGVDSCQGDSGGPLTCSEPGPRPR
EVLFGVTSWGDGCGEPGKPGVYTRVAVFKDWLQEQMSASSSREPSCRELLAWDPPQELQA
DAARLCAFYARLCPGSQGACARLAHQQCLQRRRRCELRSLAHTLLGLLRNAQELLGPRPG
LRRLAPALALPAPALRESPLHPARELRLHSGSRAAGTRFPKRRPEPRGEANGCPGLEPLR
QKLAALQGAHAWILQVPSEHLAMNFHEVLADLGSKTLTGLFRAWVRAGLGGRHVAFSGLV
GLEPATLARSLPRLLVQALQAFRVAALAEGEPEGPWMDVGQGPGLERKGHHPLNPQVPPA
RQP
Sequence length 603
Interactions View interactions
Associated diseases
Gene SNPs Gene ontology Other IDs Protein Associated diseases
Causal
Disease name Disease term dbSNP ID References
Glaucoma Glaucoma rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328, rs121909193, rs74315330, rs74315329, rs74315332, rs74315334, rs74315336, rs74315338, rs74315341, rs121909194, rs74315331, rs1558603396, rs387907175, rs587778873, rs587778875, rs104894979, rs137854895, rs766425037, rs72549380, rs148542782, rs541217363, rs753021890, rs771076928, rs56010818, rs777678299, rs1446110883, rs1573274915, rs1587545234, rs751768343, rs944452644
Microphthalmia MICROPHTHALMIA, ISOLATED 6 rs587776595, rs121908189, rs587776596, rs104894663, rs121909127, rs1603388837, rs121909128, rs121912543, rs121912545, rs730882064, rs387907095, rs387907096, rs397514652, rs397514653, rs78931658, rs730882141, rs150232843, rs730882143, rs730882158, rs730882159, rs730882160, rs730882161, rs730882162, rs786205471, rs786205472, rs797045054, rs869025268, rs755799430, rs1555037395, rs770341402, rs1245503127, rs749156010, rs376898612, rs750894392, rs1359404443, rs1422497202, rs374823079, rs1565295426, rs145719998, rs1166512859, rs752288097, rs1226217440, rs1243587288 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, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 27182965, 23396134
Unknown
Disease name Disease term dbSNP ID References
Angle closure glaucoma Angle Closure Glaucoma 21532570
Strabismus Strabismus

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