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

PTPRH Gene

protein-coding   GIFtS: 64
GCID: GC19M055692

Protein Tyrosine Phosphatase, Receptor Type, H

  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
Protein Tyrosine Phosphatase, Receptor Type, H1 2     SAP12 3
Stomach Cancer-Associated Protein Tyrosine Phosphatase 12 3     EC 3.1.3.483 8
Transmembrane-Type Protein-Tyrosine Phosphatase Type H2 3     Receptor-Type Tyrosine-Protein Phosphatase H2
R-PTP-H2 3     SAP-13

External Ids:    HGNC: 96721   Entrez Gene: 57942   Ensembl: ENSG000000800317   OMIM: 6025105   UniProtKB: Q9HD433   

Export aliases for PTPRH gene to outside databases

Previous GC identifers: GC19M056556 GC19M056117 GC19M060368 GC19M060384 GC19M052015


(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 PTPRH Gene:
The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to
be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation,
mitotic cycle, and oncogenic transformation. This PTP possesses an extracellular region, a single transmembrane
region, and a single intracytoplasmic catalytic domain, and thus represents a receptor-type PTP. The
extracellular region contains eight fibronectin type III-like repeats and multiple N-glycosylation sites. The
gene was shown to be expressed primarily in brain and liver, and at a lower level in heart and stomach. It was
also found to be expressed in several cancer cell lines, but not in the corresponding normal tissues. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Jun 2009)

GeneCards Summary for PTPRH Gene: 
PTPRH (protein tyrosine phosphatase, receptor type, H) is a protein-coding gene. Diseases associated with PTPRH include stomach cancer, and peutz-jeghers syndrome, and among its related super-pathways are PAK Pathway. GO annotations related to this gene include protein binding and transmembrane receptor protein tyrosine phosphatase activity. An important paralog of this gene is PTPN1.

UniProtKB/Swiss-Prot: PTPRH_HUMAN, Q9HD43
Function: May contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of
focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes.
Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated
by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal
activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and
surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal
activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of p130cas, focal
adhesion kinase and c-Src. Reduces migratory activity of Jurkat cells

Gene Wiki entry for PTPRH 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PTPRH gene promoter:
         PPAR-gamma1   NRSF form 1   HNF-4alpha2   NRSF form 2   GATA-1   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): PTPRH promoter sequence
   Search SABiosciences Chromatin IP Primers for PTPRH

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


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

Entrez Gene cytogenetic band: 19q13.4   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.4

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M055692:  view genomic region     (about GC identifiers)

Start:
55,692,615 bp from pter      End:
55,720,874 bp from pter
Size:
28,260 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: PTPRH_HUMAN, Q9HD43 (See protein sequence)
Recommended Name: Receptor-type tyrosine-protein phosphatase H precursor  
Size: 1115 amino acids; 122352 Da
Subunit: Homodimer; disulfide-linked (Probable). Interacts with LCK
Subcellular location: Membrane; Single-pass type I membrane protein (Potential). Cytoplasm
Sequence caution: Sequence=BAA03645.2; Type=Frameshift; Positions=213, 244, 264, 287, 291;
Secondary accessions: Q15426 Q2NKN9 Q2NKP0
Alternative splicing: 2 isoforms:  Q9HD43-1   Q9HD43-2   

Explore the universe of human proteins at neXtProt for PTPRH: NX_Q9HD43

Explore proteomics data for PTPRH at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9HD43

  • 4/5 DME Specific Peptides for PTPRH (Q9HD43) (see all 5)
     WPDHGVP  LSWEVPD  VQTEAQY  DYINASF 

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

    PTPRH Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001154912.1  NP_002833.3  

    ENSEMBL proteins: 
     ENSP00000365528   ENSP00000263434  

    Human Recombinant Protein Products for PTPRH: 
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    Cloud-Clone Corp. Proteins for PTPRH 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IDA--
    GO:0005887integral to plasma membrane TAS8294459

    PTPRH for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing
    PTPR: Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like

    IUPHAR Guide to PHARMACOLOGY protein family classification: Type H 
    Receptor tyrosine phosphatases (RTP)

    5 InterPro protein domains:
     IPR003961 Fibronectin_type3
     IPR016130 Tyr_Pase_AS
     IPR013783 Ig-like_fold
     IPR000242 Tyr_Pase_rcpt/non-rcpt
     IPR000387 Tyr/Dual-sp_Pase

    Graphical View of Domain Structure for InterPro Entry Q9HD43

    ProtoNet protein and cluster: Q9HD43

    1 Blocks protein domain: IPB000242 Protein tyrosine phosphatase signature

    UniProtKB/Swiss-Prot: PTPRH_HUMAN, Q9HD43
    Domain: The extracellular domain mediates homodimerization. One or more cysteines in the extracellular domain is
    essential for the formation of dimers probably by forming a disulfide bond
    Domain: The cytoplasmic domain mediates the interaction with LCK
    Similarity: Belongs to the protein-tyrosine phosphatase family. Receptor class 3 subfamily
    Similarity: Contains 8 fibronectin type-III domains
    Similarity: Contains 1 tyrosine-protein phosphatase domain


    PTPRH 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: PTPRH_HUMAN, Q9HD43
    Function: May contribute to contact inhibition of cell growth and motility by mediating the dephosphorylation of
    focal adhesion-associated substrates and thus negatively regulating integrin-promoted signaling processes.
    Induces apoptotic cell death by at least two distinct mechanisms: inhibition of cell survival signaling mediated
    by PI 3-kinase, Akt, and ILK and activation of a caspase-dependent proapoptotic pathway. Inhibits the basal
    activity of LCK and its activation in response to TCR stimulation and TCR-induced activation of MAP kinase and
    surface expression of CD69. Inhibits TCR-induced tyrosine phosphorylation of LAT and ZAP70. Inhibits both basal
    activity of DOK1 and its CD2-induced tyrosine phosphorylation. Induces dephosphorylation of p130cas, focal
    adhesion kinase and c-Src. Reduces migratory activity of Jurkat cells
    Catalytic activity: Protein tyrosine phosphate + H(2)O = protein tyrosine + phosphate
    Enzyme regulation: Regulated by reversible dimerization. Dimerization reduces its catalytic activity
    Induction: Induced at the early stage of hepatocellular carcinoma and is suppressed at later stages

         Genatlas biochemistry entry for PTPRH:
    protein tyrosine phosphatase,receptor type III,eta polypeptide

         Enzyme Number (IUBMB): EC 3.1.3.481 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004725protein tyrosine phosphatase activity ----
    GO:0005001transmembrane receptor protein tyrosine phosphatase activity TAS8294459
    GO:0005515protein binding IPI12907755
    GO:0016791phosphatase activity ----
         
    PTPRH for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for PTPRH:
     Decreased Hepatitis C virus re  Decreased viability  Increased cell death HMECs cel 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Ptprh):
     digestive/alimentary  no phenotypic analysis  tumorigenesis 

    PTPRH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ptprhtm1.1Mato for PTPRH

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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PTPRH 
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    hsa-miR-29a*
    SwitchGear 3'UTR luciferase reporter plasmidPTPRH 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PTPRH


    (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 PTPRH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1PAK Pathway
    Epithelial Adherens Junctions0.36

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for PTPRH
        Epithelial Adherens Junctions


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PTPRH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/10 Interacting proteins for PTPRH (Q9HD431, 2, 3 ENSP000003655284) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GHRP109121, 3, ENSP000002308824EBI-1267176,EBI-286316 I2D: score=2 STRING: ENSP00000230882
    BCAR1P569453, ENSP000001623304I2D: score=2 STRING: ENSP00000162330
    DOK1Q997043, ENSP000002336684I2D: score=1 STRING: ENSP00000233668
    LCKP062393, ENSP000003378254I2D: score=1 STRING: ENSP00000337825
    MAPK1P284823, ENSP000002158324I2D: score=1 STRING: ENSP00000215832
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006470protein dephosphorylation TAS8294459
    GO:0006915apoptotic process IEA--
    GO:0016311dephosphorylation ----

    PTPRH 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

    PTPRH for compounds           About GeneDecksing

    EMD Millipore small molecules for PTPRH:
    Small Molecule - inhibitor
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    Browse Tocris compounds for PTPRH

    2 HMDB Compounds for PTPRH    About this table
    CompoundSynonyms CAS #PubMed Ids
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 Novoseek inferred chemical compound relationship for PTPRH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 43.4 7 12837766 (3), 12879010 (2)

    Search CenterWatch for drugs/clinical trials and news about PTPRH

    (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 PTPRH gene (2 alternative transcripts): 
    NM_001161440.1  NM_002842.3  

    Unigene Cluster for PTPRH:

    Protein tyrosine phosphatase, receptor type, H
    Hs.179770  [show with all ESTs]
    Unigene Representative Sequence: NM_002842
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000376350(uc002qjq.3 uc002qjs.2) ENST00000263434(uc010esv.3)
    ENST00000588559 ENST00000586852 ENST00000586310 ENST00000588370 ENST00000587662

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate PTPRH:
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK097257.1 BC111715.1 BC111716.1 D15049.2 

    8 DOTS entries:

    DT.208500  DT.102821520  DT.120609  DT.121498626  DT.91755221  DT.121498631  DT.121498640  DT.75132680 

    24/36 AceView cDNA sequences (see all 36):

    BP364863 AA640096 BP364613 BF000072 D17146 BX479640 BX116222 D15049 
    AK097257 BX954677 AI924306 NM_002842 BG333053 BM795464 BM127458 AA573849 
    BG248753 BI839043 BX325139 AI672964 AI821659 BQ919543 BE304621 AA343218 

    GeneLoc Exon Structure


    (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

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


    PTPRH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             colon ; peripheral nerve/ganglion   
             colonic mucosal (ibs)   
     
     Melanocytes (Integumentary System)
             skin ; melanocytes   
     
     Peripheral Nervous System (Nervous System)
             colon ; peripheral nerve/ganglion   

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

    SOURCE GeneReport for Unigene cluster: Hs.179770

    UniProtKB/Swiss-Prot: PTPRH_HUMAN, Q9HD43
    Tissue specificity: Expressed at high levels in the brain, spleen and liver and at lower levels in the heart and
    stomach. Expressed in pancreatic and colorectal cancer cells, but not in normal pancreas or colon. Expression in
    hepatocellular carcinoma is related to the differentiation status of the tumor and expression is inversely
    related to tumor aggressiveness

        SABiosciences Expression via Pathway-Focused PCR Array including PTPRH: 
              Protein Phosphatases in human mouse rat

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

    (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 PTPRH gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ptprh1 , 5 protein tyrosine phosphatase, receptor type, H1, 5 70.77(n)1
    59.85(a)1
      7 (2.63 cM)5
    5459021  NM_207270.21  NP_997153.21 
     45486145 
    lizard
    (Anolis carolinensis)
    Reptilia PTPRH6
    Uncharacterized protein
    29(a)
    1 ↔ 1
    GL343355.1(954211-978020)
    zebrafish
    (Danio rerio)
    Actinopterygii ptprh1 protein tyrosine phosphatase, receptor type, h 43.84(n)
    31.31(a)
      569071  XM_003201270.1  XP_003201318.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C17H12.33 protein-tyrosine phosphatase 35(a)
    (best of 2)
      IV(6794148-6795367)   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PTPRH gene
    PTPN12  PTPN222  PTPRO2  PTPN112  PTPN92  PTPN62  PTPRQ2  PTPRJ2  
    PTPN22  PTPN182  PTPN122  PTPRB2  
    18/19 SIMAP similar genes for PTPRH using alignment to 2 protein entries:     PTPRH_HUMAN (see all proteins) (see all similar genes):
    DKFZp313F1310    PTPRR    DKFZp781C1038    BPTP-3    PTPN18    PTPN3
    PTPN4    PTPRS    PTPN5    DKFZp761A0712    PTPN7    DKFZp566K0524
    PTPN20A    PTPN20B    BPTP-2    PTPN1    PTN2    PTPN2

    PTPRH 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

    10/950 SNPs in PTPRH are shown (see all 950)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0389224
    ----see VAR_0389222 I V mis40--------
    rs37608701,2
    C--55693751(-) CCATAC/GCCGGC 2 -- int10--------
    rs37608691,2
    C,H--55693753(-) caccaC/Tacccg 2 -- int16Minor allele frequency- T:0.09NA WA CSA 11
    rs81130621,2
    C,A--55693798(+) gaggcA/Gaagaa 2 -- int10--------
    rs37608681,2
    C,F,A,H--55693865(-) cgcccA/Cggctg 2 -- int15Minor allele frequency- C:0.45NA WA CSA 11
    rs37608671,2
    C,F--55693908(-) GTTGTT/CGTTGT 2 -- int13Minor allele frequency- C:0.10WA NA EA 358
    rs359802791,2
    C--55694014(+) CTAGC-/ACATCCAT 2 -- cds10--------
    rs679554221,2
    C--55694015(+) TAGCT-/ACACCATT 2 -- cds10--------
    rs118812481,2
    C,F,H--55694038(+) aaatgG/Aaggct 2 -- int13Minor allele frequency- A:0.19WA NA 126
    rs1442490791,2
    C--55694097(+) GAGCCA/GGGGTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for PTPRH (55692615 - 55720874 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for PTPRH:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2668035CNV Deletion23128226
    esv2718960CNV Deletion23290073
    esv1564792CNV Deletion17803354
    nsv512598CNV Loss21212237

    1 SABiosciences Cancer Mutation PCR Assay for PTPRH:
    Cosmic IdAA Change
    109503p.S365F
    SeqTarget long-range PCR primers for resequencing PTPRH
    DNA2.0 Custom Variant and Variant Library Synthesis for PTPRH

    (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: 602510    OMIM disorders: --

    5 diseases for PTPRH:    About MalaCards
    stomach cancer    peutz-jeghers syndrome    hepatocellular carcinoma    colorectal cancer
    pancreatitis

    1 disease from the University of Copenhagen DISEASES database for PTPRH:
    Peutz-Jeghers syndrome

    PTPRH for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for PTPRH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cancer 0 2 11278335 (1), 8294459 (1)

    Human Genome Epidemiology (HuGE) Navigator: PTPRH (1 document)
    Tumor Gene Database (TGDB): PTPRH

    Export disorders for PTPRH 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 PTPRH gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with PTPRH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of a human transmembrane-type protein tyrosine phosphatase and its expression in gastrointestinal cancers. (PubMed id 8294459)1, 2, 3, 9 Matozaki T.... Kasuga M. (1994)
    2. Interaction of SAP-1, a transmembrane-type protein-tyrosine phosphatase, with the tyrosine kinase Lck. Roles in regulation of T cell function. (PubMed id 12837766)1, 2, 9 Ito T.... Matozaki T. (2003)
    3. Downregulation of stomach cancer-associated protein tyrosine phosphatase-1 (SAP-1) in advanced human hepatocellular carcinoma. (PubMed id 12879010)1, 2, 9 Nagano H.... Hayashi Y. (2003)
    4. Inhibition of cell growth and spreading by stomach cancer-associated protein-tyrosine phosphatase-1 (SAP-1) through dephosphorylation of p130cas. (PubMed id 11278335)1, 2, 9 Noguchi T.... Kasuga M. (2001)
    5. Induction of apoptosis by stomach cancer-associated protein-tyrosine phosphatase-1. (PubMed id 12101188)1, 2, 9 Takada T.... Kasuga M. (2002)
    6. Gene for the human transmembrane-type protein tyrosine phosphatase H (PTPRH): genomic structure, fine-mapping and its exclusion as a candidate for Peutz-Jeghers syndrome. (PubMed id 11435690)1, 2 Marneros A.G.... Olsen B.R. (2001)
    7. Sap-1/PTPRH activity is regulated by reversible dimerization. (PubMed id 15850787)2, 9 Walchli S....Hooft van Huijsduijnen R. (2005)
    8. Identification of protein tyrosine phosphatases with specificity for the ligand-activated growth hormone receptor. (PubMed id 12907755)1, 9 Pasquali C....Van Huijsduijnen R.H. (2003)
    9. Cytoskeletal scaffolding proteins interact with Lynch- Syndrome associated mismatch repair protein MLH1. (PubMed id 20706999)1 Brieger A....Trojan J. (2010)
    10. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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
    Entrez Gene: 5794 HGNC: 9672 AceView: PTPRH Ensembl:ENSG00000080031 euGenes: HUgn5794
    ECgene: PTPRH H-InvDB: PTPRH

    (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 PTPRH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for PTPRH 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 PTPRH gene:
    Search GeneIP for patents involving PTPRH

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



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    About This Section

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