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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

PRSS56 Gene

protein-coding GIFtS: 29
GCID: GC02U902398

protease, serine, 56

Explore 5 diseases affiliated with
PRSS56 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Protease, Serine, 56¹ ²
MCOP6²
Putative Serine Protease 56²
EC 3.4.21.-³

External Ids:	HGNC: 39433¹	Entrez Gene: 646960²	OMIM: 613858⁵	UniProtKB: P0CW18³

Export aliases for PRSS56 gene to outside databases

Previous GC identifer: GC02P233389

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PRSS56:

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)

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18

Function: May play a role in eye development

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

Search SABiosciences Regulatory transcription factor binding sites for PRSS56
Other transcription factors

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Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRSS56

Genomic Location:
Chromosome:2

Entrez Gene cytogenetic band: 2q37.1 HGNC cytogenetic band: 2q37.1

GeneLoc information about chromosome 2

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
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About This Section

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18 (See protein sequence)

Recommended Name: Putative serine protease 56 precursor

Size: 603 amino acids; 64597 Da

Caution: Product of a dubious gene prediction

Explore the universe of human proteins at neXtProt for PRSS56: NX_P0CW18

PRSS56 Protein expression data from MOPED and PaxDb: --

REFSEQ proteins: NP_001182058.1
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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

PRSS56 for domains About GeneDecksing

4 InterPro domains/families:

IPR001314 Peptidase_S1A

IPR001254 Peptidase_S1

IPR018114 Peptidase_S1_AS

IPR009003 Trypsin-like_Pept_dom

Graphical View of Domain Structure for InterPro Entry P0CW18

ProtoNet protein and cluster: P0CW18

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 1 peptidase S1 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18

Function: May play a role in eye development

Enzyme Number (IUBMB): EC 3.4.21.-¹

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Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase activity	IEA	--

PRSS56 for ontologies About GeneDecksing

Animal Models:
2 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Prss56):

nervous system

vision/eye

PRSS56 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for PRSS56

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	IEA	--

PRSS56 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PRSS56
Search CenterWatch for drugs/clinical trials and news about PRSS56 / PRS56

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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About This Section

REFSEQ mRNAs for PRSS56 gene:

NM_001195129.1

Unigene Cluster for PRSS56:

Protease, serine, 56

Hs.570310 [show with all ESTs]

Unigene Representative Sequence: NM_001195129

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3 DOTS entries:

DT.120950285 DT.95069235 DT.99949395

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

PRSS56 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TCTGGGCCCC

About this image

PRSS56 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Growth Plate

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

SOURCE GeneReport for Unigene cluster: Hs.570310

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18

Tissue specificity: Expressed neural retina, cornea, sclera and optic nerve

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for PRSS56 gene from 4/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Details
mouse (Mus musculus)	Mammalia	Prss56^{1 , 5}	protease, serine 56^{1, 5}	79.9(n)¹ 79.73(a)¹	1 (44.07 cM)⁵ 69453¹ NM_027084.1¹ NP_081360.1¹ 87186665⁵
chicken (Gallus gallus)	Aves	PRSS56¹	protease, serine, 56	61.39(n) 53.27(a)	424939 XM_422746.3 XP_422746.3
zebrafish (Danio rerio)	Actinopterygii	LOC563528¹	novel protein with Trypsin domain	57.23(n) 50.12(a)	563528 XM_686892.5 XP_691984.5
fruit fly (Drosophila melanogaster)	Insecta	CG18735¹	CG18735	49.05(n) 43.5(a)	59137 NM_144388.1 NP_652645.1

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs56011339^1,2	C,F,	--	225234336(+)	`CCAGAC/TTTGGT`	1	--	us2k¹		1		NA	120
rs78203747^1,2		--	225234534(+)	`GGGCTC/TTGTGT`	1	--	us2k¹		0	--	--	--	--
rs111793783^1,2		--	225235113(+)	`AGCCCT/CGGGTC`	1	--	us2k¹		2		CSA	3
rs79135324^1,2		--	225235491(+)	`ATTACG/AGCGCT`	1	--	us2k¹		1		NA	120
rs9679173^1,2	C,F,	--	225235668(+)	`CATAGC/TTGTAA`	1	--	us2k¹		5		NA WA	244
rs2697778^1,2		--	225236213(-)	`CAGCAC/TAGCCA`	2	M V	mis¹		0	--	--	--	--
rs116445642^1,2	C,F,	--	225236324(+)	`AGCCGC/TGGGGT`	1	--	int¹		2		NA EA	240
rs79872260^1,2	F,	--	225236780(+)	`TGGGCC/TCAGCG`	1	--	int¹		1		WA	118
rs4973045^1,2	C,	--	233383263(+)	`GTTGTG/ATTACA`	1	--	us2k¹		2		WA EA	122
rs2697800^1,2	C,F,H,	--	233383416(-)	`GCACAG/AGTTAC`	1	--	us2k¹		22		NS EA NA WA	2758

Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for PRSS56: --
Human Gene Mutation Database (HGMD): PRSS56

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

PRSS56 for disorders About GeneDecksing

OMIM gene information: 613858 OMIM disorders: --

UniProtKB/Swiss-Prot: PRS56_HUMAN, P0CW18

Defects in PRSS56 are the cause of microphthalmia isolated type 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

discs, tortuous vessels, and an abnormal foveal avascular zone

5 diseases for PRSS56: About MalaCards

angle-closure glaucoma amblyopia hyperopia glaucoma

microphthalmia

Export disorders for PRSS56 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for PRSS56 gene integrated from 9 sources:
(articles sorted by number of sources associating them with PRSS56)

Utopia: connect your pdf to the dynamic
world of online information

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. (PubMed id 21397065)^{1, 2, 3} Gal A.... Rosenberg T. (2011)
Alteration of the serine protease PRSS56 causes angle -closure glaucoma in mice and posterior microphthalmia in humans and mice. (PubMed id 21532570)^{1, 3} Nair K.S....John S.W. (2011)
Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)^{1, 2} Brandenberger R.... Stanton L.W. (2004)
Mutations in a novel serine protease PRSS56 in famili es with nanophthalmos. (PubMed id 21850159)¹ Orr A....Samuels M.E. (2011)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Intellectual Property for PRSS56 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for PRSS56 gene:
Search GeneIP for patents involving PRSS56

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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In Situ Hybridization Assays from
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About This Section


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PRSS56 Gene

protease, serine, 56

Aliases
for PRSS56 gene

Summaries
for PRSS56 gene

Genomic Views
for PRSS56 gene

Proteins
for PRSS56 gene

Protein Domains /
Families
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PRSS56 Gene

protease, serine, 56

Aliasesfor PRSS56 gene

Summariesfor PRSS56 gene

Genomic Viewsfor PRSS56 gene

Proteinsfor PRSS56 gene

Protein Domains /Familiesfor PRSS56 gene

Functionfor PRSS56 gene

Pathways & Interactionsfor PRSS56 gene

Drugs & Compoundsfor PRSS56 gene

Transcriptsfor PRSS56 gene

Expression for PRSS56 gene

Orthologsfor PRSS56 gene

Paralogsfor PRSS56 gene

Genomic Variantsfor PRSS56 gene

Disorders / Diseasesfor PRSS56 gene

Publicationsfor PRSS56 gene

External Searches for PRSS56 gene

Genome Databases showing PRSS56 gene

Other Databases showing PRSS56 gene

Specialized Databases showing PRSS56 gene

Intellectual Propertyfor PRSS56 gene

Productsfor PRSS56 gene

View Random Gene

Aliases
for PRSS56 gene

Summaries
for PRSS56 gene

Genomic Views
for PRSS56 gene

Proteins
for PRSS56 gene

Protein Domains /
Families
for PRSS56 gene

Function
for PRSS56 gene

Pathways & Interactions
for PRSS56 gene

Drugs & Compounds
for PRSS56 gene

Transcripts
for PRSS56 gene

Expression
for PRSS56 gene

Orthologs
for PRSS56 gene

Paralogs
for PRSS56 gene

Genomic Variants
for PRSS56 gene

Disorders / Diseases
for PRSS56 gene

Publications
for PRSS56 gene

Intellectual Property
for PRSS56 gene

Products
for PRSS56 gene