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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PRSS8 Gene

protein-coding   GIFtS: 65
GCID: GC16M031142

Protease, Serine, 8

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Protease, Serine, 81 2     PROSTASIN2
prostasin1 2     EC 3.4.21.-3
Channel-Activating Protease 12 3     EC 3.4.218
Serine Protease 82 3     EC 3.4.21.1208
CAP12 3     

External Ids:    HGNC: 94911   Entrez Gene: 56522   Ensembl: ENSG000000523447   OMIM: 6008235   UniProtKB: Q166513   

Export aliases for PRSS8 gene to outside databases

Previous GC identifers: GC16M030224 GC16M031639 GC16M031139 GC16M031178 GC16M031050 GC16M028703


(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 PRSS8 Gene:
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is
highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. The
proprotein is cleaved to produce a light chain and a heavy chain which are associated by a disulfide bond. It is
active on peptide linkages involving the carboxyl group of lysine or arginine. (provided by RefSeq, Jul 2008)

GeneCards Summary for PRSS8 Gene: 
PRSS8 (protease, serine, 8) is a protein-coding gene. Diseases associated with PRSS8 include ichthyosis, follicular, and ichthyosis with hypotrichosis. GO annotations related to this gene include serine-type peptidase activity and serine-type endopeptidase activity. An important paralog of this gene is PRSS46.

UniProtKB/Swiss-Prot: PRSS8_HUMAN, Q16651
Function: Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates
epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G)

Gene Wiki entry for PRSS8 Gene


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PRSS8 gene promoter:
         TBP   NF-1   Pax-5   MAZR   AP-4   LCR-F1   Tal-1beta   AREB6   HEN1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRSS8 promoter sequence
   Search SABiosciences Chromatin IP Primers for PRSS8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PRSS8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

PRSS8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRSS8 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M031142:  view genomic region     (about GC identifiers)

Start:
31,142,754 bp from pter      End:
31,147,151 bp from pter
Size:
4,398 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PRSS8_HUMAN, Q16651 (See protein sequence)
Recommended Name: Prostasin precursor  
Size: 343 amino acids; 36431 Da
Subunit: Heterodimer of two chains, light and heavy, held by a disulfide bond
Subcellular location: Prostasin: Cell membrane; Single-pass membrane protein
Subcellular location: Prostasin light chain: Secreted, extracellular space. Note=Found in the seminal fluid.
Secreted after cleavage of its C-terminus
Subcellular location: Prostasin heavy chain: Secreted, extracellular space. Note=Found in the seminal fluid.
Secreted after cleavage of its C-terminus
6/9 PDB 3D structures from and Proteopedia for PRSS8 (see all 9):
3DFJ (3D)        3DFL (3D)        3E0N (3D)        3E0P (3D)        3E16 (3D)        3E1X (3D)    
Secondary accessions: Q9UCA3

Explore the universe of human proteins at neXtProt for PRSS8: NX_Q16651

Explore proteomics data for PRSS8 at MOPED 

4/7 DME Specific Peptides for PRSS8 (Q16651) (see all 7)
 TGIVSWG  GDSGGPL  LQQLEVP  IRPICLP 

PRSS8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

PRSS8 Protein Expression
REFSEQ proteins: NP_002764.1  
ENSEMBL proteins: 
 ENSP00000319730   ENSP00000457750   ENSP00000457673   ENSP00000458056  

Human Recombinant Protein Products for PRSS8: 
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Novus Biologicals PRSS8 Proteins
Novus Biologicals PRSS8 Lysate
Sino Biological Recombinant Protein for PRSS8
Sino Biological Cell Lysate for PRSS8 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. Proteins for PRSS8 

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS10077646
GO:0005615extracellular space IEA--
GO:0005886plasma membrane IDA19911255
GO:0016021integral to membrane IEA--

PRSS8 for ontologies           About GeneDecksing



PRSS8 Antibody Products: 
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LSBio Antibodies in human, mouse, rat for PRSS8 

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Cloud-Clone Corp. ELISAs for PRSS8 
Cloud-Clone Corp. CLIAs for PRSS8


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
PRSS: Serine peptidases / Serine peptidases

4 InterPro protein domains:
 IPR001314 Peptidase_S1A
 IPR001254 Peptidase_S1
 IPR018114 Peptidase_S1_AS
 IPR009003 Trypsin-like_Pept_dom

Graphical View of Domain Structure for InterPro Entry Q16651

ProtoNet protein and cluster: Q16651

2 Blocks protein domains:
IPB001254 Serine protease
IPB001314 Chymotrypsin serine protease family (S1) signature


UniProtKB/Swiss-Prot: PRSS8_HUMAN, Q16651
Similarity: Belongs to the peptidase S1 family
Similarity: Contains 1 peptidase S1 domain


PRSS8 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: PRSS8_HUMAN, Q16651
Function: Possesses a trypsin-like cleavage specificity with a preference for poly-basic substrates. Stimulates
epithelial sodium channel (ENaC) activity through activating cleavage of the gamma subunits (SCNN1G)

     Genatlas biochemistry entry for PRSS8:
protease serine 8,prostasin from the seminal fluid,with strong homology to acrosin,plasma kallikrein and
hepsin,predominantly expressed in prostate

     Enzyme Numbers (IUBMB): EC 3.4.212 EC 3.4.21.1202 EC 3.4.21.-1

     Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003824catalytic activity ----
GO:0004252serine-type endopeptidase activity IEA--
GO:0005515protein binding IPI19911255
GO:0008236serine-type peptidase activity TAS8034638
     
PRSS8 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for PRSS8:
 Decreased influenza A virus in  Decreased nuclei size in G2M 

     11 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Prss8):
 embryogenesis  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
 integument  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 
 normal 

PRSS8 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Prss8tm1.1Hum for PRSS8

   inGenious Targeting Laboratory - Custom generated mouse model solutions for PRSS8 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PRSS8

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRSS8 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRSS8 

miRNA
Products:
    
miRTarBase miRNAs that target PRSS8:
hsa-mir-1 (MIRT002798)

QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRSS8
8 QIAGEN miScript miRNA Assays for microRNAs that regulate PRSS8:
hsa-miR-4283 hsa-miR-4264 hsa-miR-31 hsa-miR-1203 hsa-miR-455-3p hsa-miR-24 hsa-miR-1910 hsa-miR-1289
SwitchGear 3'UTR luciferase reporter plasmidPRSS8 3' UTR sequence
Inhib. RNA
Products:
    
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Gene Editing
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Clone
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OriGene ORF clones in mouse, rat for PRSS8
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: PRSS8 (NM_002773)
Sino Biological Human cDNA Clone for PRSS8
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRSS8
Sirion Biotech Customized lentivirus for stable overexpression of PRSS8 
                     Customized lentivirus expression plasmids for stable overexpression of PRSS8 

Cell Line
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GenScript Custom overexpressing Cell Line Services for PRSS8
Search LifeMap BioReagents cell lines for PRSS8
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRSS8


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for PRSS8 About                                                                                                See pathways by source

SuperPathContained pathways About
1CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 GeneGo (Thomson Reuters) Pathway for PRSS8
    CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)



Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PRSS8

1 Interacting protein for PRSS8 (Q166512, 3) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
ATF7IPQ6VMQ62, 3MINT-61922 I2D: score=3 
About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006508proteolysis IEA--
GO:0010765positive regulation of sodium ion transport IEA--

PRSS8 for ontologies           About GeneDecksing



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

PRSS8 for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for PRSS8

1 DrugBank Compound for PRSS8    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
1-[4-(hydroxymethyl)phenyl]guanidine-- --target--10592235

5 Novoseek inferred chemical compound relationships for PRSS8 gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
serine 79.7 76 12506133 (4), 11274175 (4), 11967240 (4), 8034638 (3) (see all 38)
aprotinin 71.3 5 11373334 (2), 12506133 (1), 15246975 (1)
sodium 65.6 56 11373334 (4), 16172430 (4), 12506133 (3), 19262497 (3) (see all 20)
nitric oxide 0 1 16638913 (1)
potassium 0 2 11373334 (1)

Search CenterWatch for drugs/clinical trials and news about PRSS8

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for PRSS8 gene: 
NM_002773.3  

Unigene Cluster for PRSS8:

Protease, serine, 8
Hs.75799  [show with all ESTs]
Unigene Representative Sequence: NM_002773
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000317508(uc002ebc.4 uc010vfe.2) ENST00000568261 ENST00000567531
ENST00000567797 ENST00000564025 ENST00000567833
miRNA
Products:
     
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PRSS8
8 QIAGEN miScript miRNA Assays for microRNAs that regulate PRSS8:
hsa-miR-4283 hsa-miR-4264 hsa-miR-31 hsa-miR-1203 hsa-miR-455-3p hsa-miR-24 hsa-miR-1910 hsa-miR-1289
SwitchGear 3'UTR luciferase reporter plasmidPRSS8 3' UTR sequence
Inhib. RNA
Products:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for PRSS8
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PRSS8
Clone
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OriGene clones in human, mouse for PRSS8 (see all 7)
OriGene ORF clones in mouse, rat for PRSS8
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: PRSS8 (NM_002773)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRSS8
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRSS8
Sirion Biotech Customized lentivirus for stable overexpression of PRSS8 
                     Customized lentivirus expression plasmids for stable overexpression of PRSS8 
Primer
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OriGene qPCR primer pairs and template standards for PRSS8
OriGene qSTAR qPCR primer pairs in human, mouse for PRSS8
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  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRSS8
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRSS8

Additional mRNA sequence: 

AK296656.1 AK301619.1 AK309955.1 BC001462.2 L41351.1 

13 DOTS entries:

DT.85100542  DT.95104069  DT.97806684  DT.100823093  DT.95104125  DT.120688803  DT.120688858  DT.95104117 
DT.100823091  DT.120688813  DT.95104070  DT.120688814  DT.102823948 

24/266 AceView cDNA sequences (see all 266):

CK821693 AU123750 AA369602 BP334748 BM794592 BP343795 AI276369 AI186484 
BG386531 CK821692 AA299733 BM784262 BQ188467 NM_002773 CR624569 AI457933 
AI207298 AW779184 AI240180 AW591183 AI469891 CD723955 BE350060 L41351 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for PRSS8    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6
SP1:                                          
SP2:                                          
SP3:              -                           


ECgene alternative splicing isoforms for PRSS8

(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

PRSS8 expression in normal human tissues (normalized intensities)      PRSS8 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GACCAGCCCA
PRSS8 Expression
About this image


PRSS8 expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/17 selected tissues (see all 17) fully expand
 
 Epithelium
         Human Bronchial Epithelial Cells (HBEpiC)   
 
 Lung (Respiratory System)    fully expand to see all 7 entries
         Human Bronchial Epithelial Cells (HBEpiC)   
         visceral organ/lung/left lung   
 
 Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 5 entries
         ESI-051   
 
 Kidney (Urinary System)    fully expand to see all 4 entries
         Renal Collecting Duct System
         Human Renal Proximal Tubular Epithelial Cells (HRPTEpiC)   
         visceral organ/metanephros/calyx   
 
 Epidermis (Integumentary System)    fully expand to see all 3 entries
         Corneocytes Stratified Epidermis
         Human EpiDermal Keratinocytes (HEK)   

See PRSS8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for PRSS8

SOURCE GeneReport for Unigene cluster: Hs.75799

UniProtKB/Swiss-Prot: PRSS8_HUMAN, Q16651
Tissue specificity: Found in prostate, liver, salivary gland, kidney, lung, pancreas, colon, bronchus and renal
proximal tubular cells. In the prostate gland it may be synthesized in epithelial cells, secreted into the ducts,
and excreted into the seminal fluid

    SABiosciences Custom PCR Arrays for PRSS8
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QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PRSS8
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PRSS8
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRSS8

(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 chordates.

Orthologs for PRSS8 gene from 3/12 species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Prss81 , 5 protease, serine, 8 (prostasin)1, 5 80.12(n)1
77.74(a)1
  7 (69.84 cM)5
765601  NM_133351.31  NP_579929.11 
 1279257255 
lizard
(Anolis carolinensis)
Reptilia PRSS86
--
(see all 5)
--
47(a)
45(a)
(see all 5)
1 ↔ 1
possible ortholog
(see all 5)
GL343220.1(2290775-2314067)
GL343287.1(1470248-1480509)
zebrafish
(Danio rerio)
Actinopterygii LOC1000015201 serine protease 27-like 49.63(n)
44.03(a)
  100001520  XM_001341462.1  XP_001341498.1 


ENSEMBL Gene Tree for PRSS8 (if available)
TreeFam Gene Tree for PRSS8 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for PRSS8 gene
PRSS462  PRSS482  PRSS222  PRSS272  TMPRSS92  PRSS212  PRSS452  TPSG12  
TPSD12  PRSS382  TPSAB12  PRSS532  PRSS502  PRSS422  PRSS362  PRSS332  
TPSB22  
18/93 SIMAP similar genes for PRSS8 using alignment to 4 protein entries:     PRSS8_HUMAN (see all proteins) (see all similar genes):
PRSS45    KLKB1    TMPRSS11B    PRSS1    PRSS33    C1R
TMPRSS3    CELA3A    TMPRSS13    tryptaseC    PRSS48    HGFAC
PRSS42    TPSB2    CTRB1    CELA2B    ELA2A    F11

PRSS8 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

10/125 SNPs in PRSS8 are shown (see all 125)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 16 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs2006289951,2
C--31143458(+) GCTGTC/TGGGCT 2 N D mis10--------
rs783455641,2
C--31143666(+) GGAGAA/GAAGCC 1 -- int10--------
rs455917331,2
C--31143691(+) AGGACC/TGGGCC 1 -- int10--------
rs1482146251,2
C--31143831(+) TTGGCA/GTCGAT 2 D syn10--------
rs456197351,2
C,F--31143993(+) AGCGTC/TCCACC 1 -- int14Minor allele frequency- T:0.31NA WA EU 786
rs1996042271,2
--31144013(+) GGGGCC/TACATG 2 V syn10--------
rs2020465541,2
--31144049(+) AGGCCA/GTTGGG 2 N syn10--------
rs1842616291,2
C--31144174(+) GGGGTG/TGGGGA 2 N H mis10--------
rs1411689871,2
--31144287(+) CAGGGA/GGCAAA 1 -- int10--------
rs1502949691,2
--31144400(+) TGTAAC/TCTCTG 1 -- int10--------

HapMap Linkage Disequilibrium report for PRSS8 (31142754 - 31147151 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for PRSS8:    About this table     
Variant IDTypeSubtypePubMed ID
nsv905729CNV Loss21882294
dgv2670n71CNV Loss21882294
nsv457483CNV Loss19166990
dgv2672n71CNV Loss21882294


Human Gene Mutation Database (HGMD): PRSS8
SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 600823    OMIM disorders: --

20/23 diseases for PRSS8 (see all 23):    About MalaCards
ichthyosis, follicular    ichthyosis with hypotrichosis    hypohidrosis    chromophobe renal cell carcinoma
pseudohypoaldosteronism type 1    hypotrichosis    pseudohypoaldosteronism    ichthyosis
cystic fibrosis    germ cell tumors    renal cell carcinoma    basal cell carcinoma
prostatitis    ovarian cancer    essential hypertension    hypertension
cervical cancer    prostate cancer    glioblastoma    cervicitis


PRSS8 for disorders           About GeneDecksing

10/12 Novoseek inferred disease relationships for PRSS8 gene (see all 12)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
pseudohypoaldosteronism 68.3 1 15547682 (1)
aldosteronism primary 37.9 4 11828000 (3), 16172430 (1)
benign prostatic hyperplasia 33.5 1 19670249 (1)
prostate carcinoma 28.1 3 17532063 (2), 18054338 (1)
invasive cancer 27.8 2 19670249 (1), 19849847 (1)
cystic fibrosis 21.1 9 15246975 (3), 18310226 (1), 12460120 (1)
ovarian cancer 20.7 7 11584061 (3), 19606239 (3)
prostate cancer 19.5 8 11433419 (3), 12518323 (3), 16541421 (1), 19670249 (1)
cancer 3.11 8 12518323 (2), 19555470 (2), 18054338 (1), 16103126 (1)
carcinoma 2.69 2 11173941 (1), 19555470 (1)

Genetic Association Database (GAD): PRSS8
Human Genome Epidemiology (HuGE) Navigator: PRSS8 (2 documents)

Export disorders for PRSS8 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 PRSS8 gene, integrated from 9 sources (see all 92):
(articles sorted by number of sources associating them with PRSS8)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Molecular cloning, tissue-specific expression, and cellular localization of human prostasin mRNA. (PubMed id 7768952)1, 2, 3, 9 Yu J.X.... Chao J. (1995)
  2. Prostasin, a membrane-anchored serine peptidase, regulates sodium currents in JME/CF15 cells, a cystic fibrosis airway epithelial cell line. (PubMed id 15246975)1, 2, 9 Tong Z....Caughey G.H. (2004)
  3. Prostasin is a novel human serine proteinase from seminal fluid. Purification, tissue distribution, and localization in prostate gland. (PubMed id 8034638)1, 2, 9 Yu J.X.... Chao J. (1994)
  4. Biochemical characterization of prostasin, a channel activating protease. (PubMed id 15474520)1, 2, 9 Shipway A....Harris J.L. (2004)
  5. Structure and chromosomal localization of the human prostasin (PRSS8) gene. (PubMed id 8838796)1, 3, 9 Yu J.X....Chao J. (1996)
  6. Active site conformational changes of prostasin provide a new mechanism of protease regulation by divalent cations. (PubMed id 19388054)1, 2, 9 Spraggon G....Lesley S.A. (2009)
  7. Prostasin: A Possible Candidate Gene for Human Hypertension. (PubMed id 18583984)1, 4, 9 Zhu H....Dong Y. (2008)
  8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
  9. Urinary prostasin in humans: relationships among prostasin, aldosterone and epithelial sodium channel activity. (PubMed id 19262497)1, 9 Koda A....Kitamura K. (2009)
  10. Loss of prostasin (PRSS8) in human bladder transition al cell carcinoma cell lines is associated with epithelial-mesenchymal transiti on (EMT). (PubMed id 19849847)1, 9 Chen L.M....Chai K.X. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 5652 HGNC: 9491 AceView: PRSS8 Ensembl:ENSG00000052344 euGenes: HUgn5652
ECgene: PRSS8 H-InvDB: PRSS8

(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
NameDescription
PharmGKB entry for PRSS8 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for PRSS8 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for PRSS8 gene:
Search GeneIP for patents involving PRSS8

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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