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Aliases for PRSS56 Gene

Aliases for PRSS56 Gene

  • Protease, Serine 56 2 3 5
  • Putative Serine Protease 56 3
  • Serine Protease 56 3
  • EC 3.4.21.- 4
  • MCOP6 3

External Ids for PRSS56 Gene

Previous GeneCards Identifiers for PRSS56 Gene

  • GC02U902398
  • GC02P233389

Summaries for PRSS56 Gene

Entrez Gene Summary for PRSS56 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 microphthalmos. [provided by RefSeq, Dec 2011]

GeneCards Summary for PRSS56 Gene

PRSS56 (Protease, Serine 56) is a Protein Coding gene. Diseases associated with PRSS56 include Microphthalmia, Isolated 6 and Microphthalmia. GO annotations related to this gene include serine-type endopeptidase activity. An important paralog of this gene is TMPRSS9.

UniProtKB/Swiss-Prot for PRSS56 Gene

  • Serine protease required during eye development.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRSS56 Gene

Genomics for PRSS56 Gene

Regulatory Elements for PRSS56 Gene

Enhancers for PRSS56 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G232488 0.7 FANTOM5 54.6 -31.9 -31890 0.3 CTCF SUZ12 TEAD4 MAX RAD21 HNF4A HNRNPL ZFX EZH2 NR2C2 ECEL1 PRSS56
GH02G232521 1.2 Ensembl ENCODE 13.2 +5.1 5066 8.5 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF143 SP5 REST CHRNG PRSS56 CHRND TIGD1 EIF4E2 SCARNA5
GH02G232514 0.7 ENCODE 10 -4.3 -4324 2.6 GATAD2A JUNB CEBPB CEBPG ZFP69B NFIL3 GLIS2 CEBPA GLIS1 ZNF629 PRSS56 CHRND TIGD1 EIF4E2 CHRNG ECEL1
GH02G232566 0.6 ENCODE 11.3 +47.6 47554 2.3 ZNF146 JUND JUN FOS TCF7L2 NFE2L2 EIF4E2 LOC105373929 CHRNG CHRND PRSS56 ECEL1 GIGYF2 PIR51534 TIGD1
GH02G232549 1.1 ENCODE 5.1 +30.3 30288 2.5 HDGF HNRNPUL1 PKNOX1 MLX ARNT CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A TIGD1 CHRNG PRSS56 PIR51534
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRSS56 on UCSC Golden Path with GeneCards custom track

Genomic Location for PRSS56 Gene

Chromosome:
2
Start:
232,520,463 bp from pter
End:
232,525,716 bp from pter
Size:
5,254 bases
Orientation:
Plus strand

Genomic View for PRSS56 Gene

Genes around PRSS56 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRSS56 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRSS56 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRSS56 Gene

Proteins for PRSS56 Gene

  • Protein details for PRSS56 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0CW18-PRS56_HUMAN
    Recommended name:
    Serine protease 56
    Protein Accession:
    P0CW18

    Protein attributes for PRSS56 Gene

    Size:
    603 amino acids
    Molecular mass:
    64597 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PRSS56 Gene

Post-translational modifications for PRSS56 Gene

Other Protein References for PRSS56 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRSS56 Gene

Domains & Families for PRSS56 Gene

Gene Families for PRSS56 Gene

Protein Domains for PRSS56 Gene

Suggested Antigen Peptide Sequences for PRSS56 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P0CW18

UniProtKB/Swiss-Prot:

PRS56_HUMAN :
  • Belongs to the peptidase S1 family.
Family:
  • Belongs to the peptidase S1 family.
genes like me logo Genes that share domains with PRSS56: view

Function for PRSS56 Gene

Molecular function for PRSS56 Gene

UniProtKB/Swiss-Prot Function:
Serine protease required during eye development.

Enzyme Numbers (IUBMB) for PRSS56 Gene

Gene Ontology (GO) - Molecular Function for PRSS56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004252 serine-type endopeptidase activity ISS --
GO:0008233 peptidase activity IEA --
GO:0008236 serine-type peptidase activity IEA --
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with PRSS56: view
genes like me logo Genes that share phenotypes with PRSS56: view

Human Phenotype Ontology for PRSS56 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

No data available for Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PRSS56 Gene

Localization for PRSS56 Gene

Gene Ontology (GO) - Cellular Components for PRSS56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum ISS,IEA --
genes like me logo Genes that share ontologies with PRSS56: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for PRSS56 Gene

Pathways & Interactions for PRSS56 Gene

SuperPathways for PRSS56 Gene

No Data Available

Interacting Proteins for PRSS56 Gene

Selected Interacting proteins: P0CW18-PRS56_HUMAN for PRSS56 Gene via IID

Symbol External ID(s) Details
ATL3
UBC

Gene Ontology (GO) - Biological Process for PRSS56 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis ISS --
GO:0043010 camera-type eye development IMP 21397065
genes like me logo Genes that share ontologies with PRSS56: view

No data available for Pathways by source and SIGNOR curated interactions for PRSS56 Gene

Drugs & Compounds for PRSS56 Gene

No Compound Related Data Available

Transcripts for PRSS56 Gene

mRNA/cDNA for PRSS56 Gene

(1) REFSEQ mRNAs :
(0) Additional mRNA sequences :
-
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PRSS56 Gene

Protease, serine, 56:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRSS56 Gene

No ASD Table

Relevant External Links for PRSS56 Gene

GeneLoc Exon Structure for
PRSS56
ECgene alternative splicing isoforms for
PRSS56

Expression for PRSS56 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRSS56 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRSS56 Gene

This gene is overexpressed in Muscle - Skeletal (x13.0), Brain - Hypothalamus (x10.0), and Testis (x7.6).

Protein differential expression in normal tissues from HIPED for PRSS56 Gene

This gene is overexpressed in Stomach (67.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRSS56 Gene



Protein tissue co-expression partners for PRSS56 Gene

NURSA nuclear receptor signaling pathways regulating expression of PRSS56 Gene:

PRSS56

SOURCE GeneReport for Unigene cluster for PRSS56 Gene:

Hs.570310

mRNA Expression by UniProt/SwissProt for PRSS56 Gene:

P0CW18-PRS56_HUMAN
Tissue specificity: Expressed neural retina, cornea, sclera and optic nerve.

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRSS56 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
Pelvis:
  • testicle
General:
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PRSS56: view

No data available for Evidence on tissue expression from TISSUES for PRSS56 Gene

Orthologs for PRSS56 Gene

This gene was present in the common ancestor of animals.

Orthologs for PRSS56 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRSS56 34
  • 99.28 (n)
dog
(Canis familiaris)
Mammalia PRSS56 34 35
  • 86.43 (n)
cow
(Bos Taurus)
Mammalia PRSS56 34
  • 86.35 (n)
mouse
(Mus musculus)
Mammalia Prss56 34 16 35
  • 80.31 (n)
rat
(Rattus norvegicus)
Mammalia Prss56 34
  • 79.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PRSS56 35
  • 66 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PRSS56 35
  • 35 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRSS56 34 35
  • 62.33 (n)
lizard
(Anolis carolinensis)
Reptilia PRSS56 35
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prss56 34
  • 55.87 (n)
zebrafish
(Danio rerio)
Actinopterygii PRSS56 35
  • 31 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004571 34
  • 51.93 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4914 34 35
  • 49.36 (n)
CG11836 35
  • 31 (a)
ManyToMany
CG18735 35
  • 30 (a)
ManyToMany
CG3355 35
  • 29 (a)
ManyToMany
CG6865 35
  • 28 (a)
ManyToMany
CG4386 35
  • 26 (a)
ManyToMany
CG9294 35
  • 26 (a)
ManyToMany
CG11843 35
  • 24 (a)
ManyToMany
CG4613 35
  • 24 (a)
ManyToMany
CG11841 35
  • 22 (a)
ManyToMany
CG11842 35
  • 22 (a)
ManyToMany
CG4927 35
  • 22 (a)
ManyToMany
CG9372 35
  • 22 (a)
ManyToMany
CG3700 35
  • 21 (a)
ManyToMany
spirit 35
  • 20 (a)
ManyToMany
CG14642 35
  • 19 (a)
ManyToMany
CG14892 35
  • 19 (a)
ManyToMany
CG11668 35
  • 18 (a)
ManyToMany
CG1299 35
  • 18 (a)
ManyToMany
psh 35
  • 18 (a)
ManyToMany
snk 35
  • 18 (a)
ManyToMany
CG11670 35
  • 17 (a)
ManyToMany
CG8172 35
  • 17 (a)
ManyToMany
CG32260 35
  • 16 (a)
ManyToMany
CG31728 35
  • 14 (a)
ManyToMany
CG7432 35
  • 14 (a)
ManyToMany
CG6361 35
  • 12 (a)
ManyToMany
Sb 35
  • 12 (a)
ManyToMany
CG34350 35
  • 10 (a)
ManyToMany
CG8213 35
  • 6 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7246 35
  • 11 (a)
ManyToMany
Species where no ortholog for PRSS56 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRSS56 Gene

ENSEMBL:
Gene Tree for PRSS56 (if available)
TreeFam:
Gene Tree for PRSS56 (if available)

Paralogs for PRSS56 Gene

Variants for PRSS56 Gene

Sequence variations from dbSNP and Humsavar for PRSS56 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs387907095 Pathogenic, Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] 232,523,492(+) CTCCT(C/G)GGGGG reference, missense
rs387907096 Pathogenic, Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] 232,522,594(+) TGAAC(C/G)GCATC reference, missense
rs61744404 Pathogenic, Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] 232,525,489(+) TACCC(A/C/G)CCGCC upstream-variant-2KB, reference, missense
rs730882158 Pathogenic, Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] 232,523,524(+) AGCCC(A/G)GGGTC reference, missense
rs730882160 Pathogenic, Microphthalmia, isolated, 6 (MCOP6) [MIM:613517] 232,523,062(+) CAGAC(A/G)GGCCT reference, missense

Structural Variations from Database of Genomic Variants (DGV) for PRSS56 Gene

Variant ID Type Subtype PubMed ID
nsv1073020 CNV deletion 25765185
nsv3211 CNV insertion 18451855
nsv522450 CNV loss 19592680
nsv527789 CNV loss 19592680
nsv821918 CNV gain 20364138
nsv953202 CNV deletion 24416366

Variation tolerance for PRSS56 Gene

Gene Damage Index Score: 3.57; 56.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRSS56 Gene

Human Gene Mutation Database (HGMD)
PRSS56
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRSS56

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRSS56 Gene

Disorders for PRSS56 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PRSS56 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
microphthalmia, isolated 6
  • isolated microphthalmia 6
microphthalmia
  • microphthalmos
isolated microphthalmia
  • microphthalmia, isolated 6
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PRS56_HUMAN
  • Microphthalmia, isolated, 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 disks, tortuous vessels, and an abnormal foveal avascular zone. {ECO:0000269 PubMed:21397065, ECO:0000269 PubMed:21532570, ECO:0000269 PubMed:21850159}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRSS56

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRSS56
genes like me logo Genes that share disorders with PRSS56: view

No data available for Genatlas for PRSS56 Gene

Publications for PRSS56 Gene

  1. Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice. (PMID: 21532570) Nair K.S. … John S.W. (Nat. Genet. 2011) 2 3 4 64
  2. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. (PMID: 21397065) Gal A. … Rosenberg T. (Am. J. Hum. Genet. 2011) 2 3 4 64
  3. Mutations in a novel serine protease PRSS56 in families with nanophthalmos. (PMID: 21850159) Orr A. … Samuels M.E. (Mol. Vis. 2011) 3 4 64
  4. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PMID: 15146197) Brandenberger R. … Stanton L.W. (Nat. Biotechnol. 2004) 3 4 64
  5. A human interactome in three quantitative dimensions organized by stoichiometries and abundances. (PMID: 26496610) Hein M.Y. … Mann M. (Cell 2015) 3 64

Products for PRSS56 Gene

Sources for PRSS56 Gene

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