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PRSS12 Gene

protein-coding   GIFtS: 55
GCID: GC04M119201

Protease, Serine, 12 (Neurotrypsin, Motopsin)

  See PRSS12-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protease, Serine, 12 (Neurotrypsin, Motopsin)1 2     neurotrypsin2
BSSP32 5     EC 3.4.21.-3
MRT12 5     Leydin3
BSSP-32     Motopsin3
Brain-Specific Serine Protease 32     Serine Protease 123
leydin2     EC 3.4.218

External Ids:    HGNC: 94771   Entrez Gene: 84922   Ensembl: ENSG000001640997   OMIM: 6067095   UniProtKB: P567303   

Export aliases for PRSS12 gene to outside databases

Previous GC identifers: GC04M119955 GC04M119483 GC04M119595 GC04M119662 GC04M119663 GC04M119560 GC04M114936


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PRSS12 Gene:
This gene encodes a member of the trypsin family of serine proteases. Studies in mouse suggest that the encoded
enzyme may be involved in structural reorganizations associated with learning and memory. The enzyme is also
expressed in Leydig cells in the testis, but its function in this tissue is unknown. Defects in this gene are a
cause of mental retardation autosomal recessive type 1 (MRT1). (provided by RefSeq, Jul 2010)

GeneCards Summary for PRSS12 Gene:
PRSS12 (protease, serine, 12 (neurotrypsin, motopsin)) is a protein-coding gene. Diseases associated with PRSS12 include mental retardation, autosomal recessive 43. GO annotations related to this gene include scavenger receptor activity and serine-type endopeptidase activity. An important paralog of this gene is LOXL2.

UniProtKB/Swiss-Prot: NETR_HUMAN, P56730
Function: Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations
associated with learning and memory operations (By similarity)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PRSS12 gene promoter:
         NF-1   NF-1/L   Pax-5   STAT5A   LUN-1   Evi-1   C/EBPalpha   HOXA5   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPRSS12 promoter sequence
   Search Chromatin IP Primers for PRSS12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PRSS12


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

Entrez Gene cytogenetic band: 4q28.1   Ensembl cytogenetic band:  4q26   HGNC cytogenetic band: 4q25-q26

PRSS12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PRSS12 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M119201:  view genomic region     (about GC identifiers)

Start:
119,201,193 bp from pter      End:
119,274,158 bp from pter
Size:
72,966 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NETR_HUMAN, P56730 (See protein sequence)
Recommended Name: Neurotrypsin precursor  
Size: 875 amino acids; 97067 Da
Secondary accessions: Q9UP16

Explore the universe of human proteins at neXtProt for PRSS12: NX_P56730

Explore proteomics data for PRSS12 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn26, Asn683
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PRSS12 (P56730) (see all 39)
     CYITGWG  LPEVVGF  PGVYTKV  VLTAAHC 


    See PRSS12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003610.2  
    ENSEMBL proteins: 
     ENSP00000296498  

    PRSS12 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for PRSS12

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

    Selected InterPro protein domains (see all 9):
     IPR001314 Peptidase_S1A
     IPR001190 SRCR
     IPR018056 Kringle_CS
     IPR001254 Peptidase_S1
     IPR018114 Peptidase_S1_AS

    Graphical View of Domain Structure for InterPro Entry P56730

    ProtoNet protein and cluster: P56730

    4 Blocks protein domains:
    IPB000001 Kringle
    IPB001190 Speract/scavenger receptor
    IPB001254 Serine protease
    IPB001314 Chymotrypsin serine protease family (S1) signature


    UniProtKB/Swiss-Prot: NETR_HUMAN, P56730
    Similarity: Belongs to the peptidase S1 family
    Similarity: Contains 1 kringle domain
    Similarity: Contains 1 peptidase S1 domain
    Similarity: Contains 4 SRCR domains


    Find genes that share domains with PRSS12           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NETR_HUMAN, P56730
    Function: Plays a role in neuronal plasticity and the proteolytic action may subserve structural reorganizations
    associated with learning and memory operations (By similarity)

         Genatlas biochemistry entry for PRSS12:
    protease serine 12,neurotrypsin,motopsin,expressed in the nervous system,hippocampal formation amygdala and
    cerebral cortex

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

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004252serine-type endopeptidase activity IEA--
    GO:0005044scavenger receptor activity IEA--
    GO:0008233peptidase activity ----
    GO:0008236serine-type peptidase activity TAS9540828
         
    Find genes that share ontologies with PRSS12           About GenesLikeMe


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Prss12):
     behavior/neurological  nervous system  no phenotypic analysis 

    Find genes that share phenotypes with PRSS12           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for PRSS12: Prss12tm1Mits Prss12tm1.1Peso

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PRSS12
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PRSS12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PRSS12

    miRNA
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    Block miRNA regulation of human, mouse, rat PRSS12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PRSS12 (see all 9):
    hsa-miR-15a hsa-miR-497 hsa-miR-373* hsa-miR-587 hsa-miR-424 hsa-miR-16 hsa-miR-195 hsa-miR-616*
    SwitchGear 3'UTR luciferase reporter plasmidPRSS12 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PRSS12

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    Clone
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    OriGene ORF clones in mouse, rat for PRSS12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PRSS12 (NM_003619)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRSS12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRSS12

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PRSS12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NETR_HUMAN, P56730: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane4
    cytoskeleton1
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005886plasma membrane ISS--
    GO:0016020membrane ----
    GO:0030424axon ISS--
    GO:0030425dendrite IEA--

    Find genes that share ontologies with PRSS12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PRSS12
    Interactions:

        Search GeneGlobe Interaction Network for PRSS12

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----
    GO:0006887exocytosis ISS--
    GO:0031638zymogen activation IEA--

    Find genes that share ontologies with PRSS12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PRSS12 (NETR)

    1 Novoseek inferred chemical compound relationship for PRSS12 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 59.9 8 10343120 (1), 9540828 (1), 18272678 (1), 12624642 (1) (see all 7)



    Find genes that share compounds with PRSS12           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PRSS12 gene: 
    NM_003619.3  

    Unigene Cluster for PRSS12:

    Protease, serine, 12 (neurotrypsin, motopsin)
    Hs.445857  [show with all ESTs]
    Unigene Representative Sequence: NM_003619
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000296498(uc003ica.2) ENST00000510903 ENST00000515089 ENST00000503043

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat PRSS12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PRSS12 (see all 9):
    hsa-miR-15a hsa-miR-497 hsa-miR-373* hsa-miR-587 hsa-miR-424 hsa-miR-16 hsa-miR-195 hsa-miR-616*
    SwitchGear 3'UTR luciferase reporter plasmidPRSS12 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PRSS12
    Predesigned siRNA for gene silencing in human, mouse, rat PRSS12
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PRSS12 (NM_003619)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PRSS12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PRSS12
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PRSS12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PRSS12
      QuantiTect SYBR Green Assays in human, mouse, rat PRSS12
      QuantiFast Probe-based Assays in human, mouse, rat PRSS12

    Additional mRNA sequence: 

    AF077298.1 AJ001531.1 BC007761.2 

    6 DOTS entries:

    DT.441307  DT.86854386  DT.92037405  DT.40125925  DT.91743268  DT.100731056 

    Selected AceView cDNA sequences (see all 113):

    BQ691996 BM721978 CR601629 BU625160 BM678493 AW014036 BQ222916 CB321720 
    AW206795 BX280928 AA367407 CB132161 AA373034 AL519577 BU675077 AA127383 
    BM695627 AA417058 AI653707 BQ688375 BU196990 BQ221229 CB149352 BQ684957 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PRSS12    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15
    SP1:                                                        -     -                                       
    SP2:                                                                                                      
    SP3:                                                                                -                     


    ECgene alternative splicing isoforms for PRSS12

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PRSS12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    PRSS12 Expression
    About this image


    PRSS12 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Sacral Back Muscles
     
     Somite (Muscoskeletal System)    fully expand to see all 4 entries
             Lumbar Epaxial Myotome
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Zigzag Dermal Papilla Cells Dermal Papilla
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 4D20.8, NCr-fac Progenitor
     
     Peripheral Nervous System (Nervous System)
             Schwann Precursor Cells Peripheral Nerve Domain
    PRSS12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PRSS12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.445857

    UniProtKB/Swiss-Prot: NETR_HUMAN, P56730
    Tissue specificity: Brain and Leydig cells of the testis

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    In Situ
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for PRSS12 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Prss121 , 5 protease, serine, 12 neurotrypsin (motopsin)5
    protease, serine 12 neurotrypsin (motopsin)1
    85.28(n)1
    86.99(a)1
      3 (54.58 cM)5
    191421  NM_008939.21  NP_032965.11 
     1234469135 
    chicken
    (Gallus gallus)
    Aves PRSS121 protease, serine, 12 (neurotrypsin, motopsin) 78.64(n)
    84.44(a)
      422685  XM_420637.4  XP_420637.4 
    lizard
    (Anolis carolinensis)
    Reptilia PRSS126
    protease, serine, 12 (neurotrypsin, motopsin)
    79(a)
    1 ↔ 1
    5(140419966-140485372)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia prss121 protease, serine, 12 (neurotrypsin, motopsin) 70(n)
    70.87(a)
      100495119  XM_002934254.2  XP_002934300.2 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5668091 neurotrypsin-like 62.77(n)
    63.51(a)
      566809  XM_001920264.2  XP_001920299.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG118363 serine-type endopeptidase 37(a)   96B20   --


    ENSEMBL Gene Tree for PRSS12 (if available)
    TreeFam Gene Tree for PRSS12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PRSS12 gene
    LOXL22  CD62  CD163L12  LOXL42  CD1632  LOXL32  SSC5D2  CD5L2  
    LOX2  SRCRB4D2  LOXL12  DMBT12  
    Selected SIMAP similar genes for PRSS12 using alignment to 1 protein entry:     NETR_HUMAN(see all similar genes):
    F12    CELA2B    CELA3A    DKFZp779M0222    DKFZp586F0824    KLK13
    PRSS22    CTRL    CELA3B    PROC1    TMPRSS11D    PROC
    F9    CD5L    CELA1    CFD    CMA1    DF

    Find genes that share paralogs with PRSS12           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PRSS12 (see all 1461)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs715939881,2
    C--114961370(+) CACACAT/-ATATA 1 -- int11Minor allele frequency- -:0.50NA 2
    rs794026151,2
    --114965716(+) CTCTCA/TCACAC 1 -- int10--------
    rs341742031,2
    C--114969775(+) AGTTT-/AGAGCT 1 -- int10--------
    rs1489788121,2
    C--118994624(+) TTAAC-/AACCAA 1 -- ds50010--------
    rs1477785521,2
    --118994729(+) AAGTGA/GTAATG 1 -- ds50010--------
    rs1395553141,2
    --118994755(+) GCATCC/TGGCAA 1 -- ds50010--------
    rs1451728811,2
    --118994756(+) CATCCA/GGCAAT 1 -- ds50010--------
    rs19931,2
    C,F,H--118994763(-) TAAGTC/TCATTG 1 -- ds50016Minor allele frequency- T:0.00MN NS EA 614
    rs743920461,2
    C,F--118994771(+) TTATCG/CTAGTT 1 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1825655101,2
    --118994777(+) TAGTTA/GGGGAA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PRSS12 (119201193 - 119274158 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for PRSS12:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662314CNV Deletion23128226
    nsv519017CNV Loss19592680
    nsv461631CNV Loss19166990
    nsv10558CNV Loss18304495
    esv34038CNV Loss18971310
    esv34354CNV Gain17911159
    dgv1668e1CNV Complex17122850

    Human Gene Mutation Database (HGMD): PRSS12
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PRSS12
    DNA2.0 Custom Variant and Variant Library Synthesis for PRSS12

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606709   
    OMIM disorders: 249500  
    UniProtKB/Swiss-Prot: NETR_HUMAN, P56730
  • Mental retardation, autosomal recessive 1 (MRT1) [MIM:249500]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for PRSS12:    
    About MalaCards
    mental retardation, autosomal recessive 43

    1 disease from the University of Copenhagen DISEASES database for PRSS12:
    Intellectual disability

    Find genes that share disorders with PRSS12           About GenesLikeMe

    1 Novoseek inferred disease relationship for PRSS12 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mental retardation 57.8 6 17223089 (2), 12459588 (1), 12836380 (1), 17965832 (1)

    Genetic Association Database (GAD): PRSS12
    Human Genome Epidemiology (HuGE) Navigator: PRSS12 (1 document)

    Export disorders for PRSS12 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)
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    PubMed articles for PRSS12 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with PRSS12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequencing of the cDNA encoding human neurotrypsin. (PubMed id 9540828)1, 2, 3, 9 Proba K.... Sonderegger P. (Biochim. Biophys. Acta 1998)
    2. Cloning and structural analysis of leydin, a novel human serine protease expressed by the Leydig cells of the testis. (PubMed id 10103056)1, 2, 9 Poorafshar M. and Hellman L. (Eur. J. Biochem. 1999)
    3. Truncating neurotrypsin mutation in autosomal recessive nonsyndromic mental retardation. (PubMed id 12459588)1, 2, 9 Molinari F....Colleaux L. (Science 2002)
    4. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (Hum. Mol. Genet. 2010)
    5. Neurotrypsin, a novel multidomain serine protease expressed in the nervous system. (PubMed id 9245503)1, 3 Gschwend T.P....Sonderegger P. (Mol. Cell. Neurosci. 1997)
    6. Assignment of the gene encoding the neuronal multidomain serine protease neurotrypsin (PRSS12) to human chromosome band 4q25--&gt;q26 by in situ hybridization. (PubMed id 10343120)1, 9 Kozlov S.V....Sonderegger P. (Cytogenet. Cell Genet. 1999)
    7. A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study. (PubMed id 17903299)4 Kathiresan S....Cupples L.A. (BMC Med. Genet. 2007)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Activity-induced synaptic capture and exocytosis of the neuronal serine protease neurotrypsin. (PubMed id 18272678)9 Frischknecht R....Sonderegger P. (J. Neurosci. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 8492 HGNC: 9477 AceView: PRSS12 Ensembl:ENSG00000164099 euGenes: HUgn8492
    ECgene: PRSS12 H-InvDB: PRSS12

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PRSS12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PRSS12 gene:
    Search GeneIP for patents involving PRSS12

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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