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TYROBP Gene

protein-coding   GIFtS: 61
GCID: GC19M036395

TYRO Protein Tyrosine Kinase Binding Protein


(Previous symbol: PLOSL)
  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)
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Aliases
TYRO Protein Tyrosine Kinase Binding Protein1 2     KARAP2 3
DNAX-Activation Protein 121 2 3     KAR-Associated Protein2 3
PLOSL1 2 5     Killer Activating Receptor Associated Protein1
DAP122 3 5     TYRO Protein Tyrosine Kinase-Binding Protein2
Killer-Activating Receptor-Associated Protein2 3     

External Ids:    HGNC: 124491   Entrez Gene: 73052   Ensembl: ENSG000000116007   OMIM: 6041425   UniProtKB: O439143   

Export aliases for TYROBP gene to outside databases

Previous GC identifers: GC19M037030 GC19M036844 GC19M041071 GC19M041087 GC19M032900


(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 TYROBP Gene:
This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation
motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory
receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This
protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and
play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this
gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
(PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells
2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been
identified for this gene. (provided by RefSeq, Mar 2010)

GeneCards Summary for TYROBP Gene:
TYROBP (TYRO protein tyrosine kinase binding protein) is a protein-coding gene. Diseases associated with TYROBP include tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, and polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. GO annotations related to this gene include receptor signaling protein activity and identical protein binding.

UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914
Function: Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP
complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin

Gene Wiki entry for TYROBP 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the TYROBP gene promoter:
         AP-1   ATF-2   c-Jun   NF-kappaB1   NF-kappaB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTYROBP promoter sequence
   Search Chromatin IP Primers for TYROBP

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


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.1

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M036395:  view genomic region     (about GC identifiers)

Start:
36,395,303 bp from pter      End:
36,399,211 bp from pter
Size:
3,909 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914 (See protein sequence)
Recommended Name: TYRO protein tyrosine kinase-binding protein precursor  
Size: 113 amino acids; 12179 Da
Subunit: Homodimer; disulfide-linked. Interacts with SIRPB1 and TREM1. Interacts with CLECSF5. Interacts with
SIGLEC14. Interacts with CD300LB and CD300E. Interacts with CD300D (By similarity). Interacts (via ITAM domain)
with SYK (via SH2 domains); activates SYK mediating neutrophils and macrophages integrin-mediated activation (By
similarity). Interacts with KLRC2 and KIR2DS3
2 PDB 3D structures from and Proteopedia for TYROBP:
2L34 (3D)        2L35 (3D)    
Secondary accessions: A8K2X0 F5H389 Q6FGA5 Q9UMT3
Alternative splicing: 3 isoforms:  O43914-1   O43914-2   O43914-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TYROBP: NX_O43914

Explore proteomics data for TYROBP at MOPED

Post-translational modifications: 

  • Tyrosine phosphorylated1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TYROBP Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001166985.1  NP_001166986.1  NP_003323.1  NP_937758.1  

    ENSEMBL proteins: 
     ENSP00000465081   ENSP00000402371   ENSP00000468608   ENSP00000445332   ENSP00000262629  
     ENSP00000465656   ENSP00000468447  
    Reactome Protein details: O43914

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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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    1 InterPro protein domain:
     IPR026200 Tyrobp

    Graphical View of Domain Structure for InterPro Entry O43914

    ProtoNet protein and cluster: O43914

    UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914
    Similarity: Belongs to the TYROBP family
    Similarity: Contains 1 ITAM domain


    TYROBP 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TYOBP_HUMAN, O43914
    Function: Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP
    complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin

         Genatlas biochemistry entry for TYROBP:
    TYR O protein tyrosine kinase binding protein,expressed in monocytes and dentritic cells as a disulfide-bonded
    dimer,associating with natural killer cell receptors lacking ITIM sequence (see KIRDS1 to 5),resulting in
    cellular activation

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005057receptor signaling protein activity TAS9490415
    GO:0005102receptor binding IPI15294961
    GO:0005515protein binding IPI10940905
    GO:0042802identical protein binding IPI--
         
    TYROBP for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Tyrobp):
     behavior/neurological  cellular  craniofacial  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  limbs/digits/tail  nervous system 
     reproductive system  skeleton 

    TYROBP for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for TYROBP: Hcst/TyrobpHcst/tm1Ttk Tyrobptm1Ttk Tyrobptm1Lll

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    (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
    TYOBP_HUMAN, O43914: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular3
    cytoskeleton1
    cytosol1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS9490415
    GO:0009986cell surface IDA15294961

    TYROBP for ontologies           About GeneDecksing


    (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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    SuperPaths for TYROBP About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Immune response Role of DAP12 receptors in NK cells
    Immune response Role of DAP12 receptors in NK cells0.33
    Natural killer cell mediated cytotoxicity0.31
    2Signaling by FGFR
    DAP12 signaling0.89
    DAP12 interactions0.89
    3Cell junction organization
    Cell-Cell communication0.64
    Signal regulatory protein (SIRP) family interactions0.00
    4L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    5Semaphorin interactions
    Semaphorin interactions0.43
    Other semaphorin interactions0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for TYROBP
        TREM1 Pathway

    1 Cell Signaling Technology (CST) Pathway for TYROBP
        Lymphocyte Signaling

    1 GeneGo (Thomson Reuters) Pathway for TYROBP
        Immune response Role of DAP12 receptors in NK cells

    5 Reactome Pathways for TYROBP
        Signal regulatory protein (SIRP) family interactions
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    DAP12 interactions
    DAP12 signaling
    Other semaphorin interactions


    2 Kegg Pathways  (Kegg details for TYROBP):
        Osteoclast differentiation
    Natural killer cell mediated cytotoxicity


    TYROBP for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TYROBP
    Interactions:

        GeneGlobe Interaction Network for TYROBP

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for TYROBP (O439141, 3 ENSP000002626294) via UniProtKB, MINT, STRING, and/or I2D (see all 47)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIRPB1O002411, 3, ENSP000002794774I2D: score=1 EBI-2214794,EBI-2615458 I2D: score=2 STRING: ENSP00000279477
    KLRC2P267171, 3, ENSP000003713274EBI-2214794,EBI-3862171 I2D: score=1 STRING: ENSP00000371327
    KLRK1P267183, ENSP000002406184I2D: score=3 STRING: ENSP00000240618
    SYKP434053, ENSP000003648984I2D: score=3 STRING: ENSP00000364898
    ZAP70P434033, ENSP000002649724I2D: score=3 STRING: ENSP00000264972
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002281macrophage activation involved in immune response IEA--
    GO:0002283neutrophil activation involved in immune response IEA--
    GO:0006968cellular defense response TAS9490415
    GO:0007165signal transduction TAS9490415
    GO:0007229integrin-mediated signaling pathway IEA--

    TYROBP for ontologies           About GeneDecksing



    (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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for TYROBP (TYOBP)

    3 Novoseek inferred chemical compound relationships for TYROBP gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 29.6 15 18691974 (3), 14707061 (1), 18957693 (1), 17086186 (1) (see all 8)
    lysine 20.1 1 17483134 (1)
    aspartate 3.6 1 10866110 (1)



    TYROBP for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TYROBP gene (4 alternative transcripts): 
    NM_001173514.1  NM_001173515.1  NM_003332.3  NM_198125.2  

    Unigene Cluster for TYROBP:

    TYRO protein tyrosine kinase binding protein
    Hs.515369  [show with all ESTs]
    Unigene Representative Sequence: BI838734
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000587837 ENST00000424586(uc002ocn.3) ENST00000585901 ENST00000544690(uc021uta.1 uc021utb.1 uc021utc.1)
    ENST00000262629(uc002ocm.3) ENST00000586946 ENST00000588439 ENST00000589517
    ENST00000585626
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    Additional mRNA sequence: 

    AF019562.1 AJ010098.1 AK290385.1 AY074782.1 BC011175.1 BT009851.1 CR450342.1 CR542202.1 
    NR_033390.1 

    6 DOTS entries:

    DT.415526  DT.95094139  DT.91737918  DT.121455821  DT.75102841  DT.95229269 

    Selected AceView cDNA sequences (see all 133):

    AI299346 AI243983 AI306602 AY074782 NM_003332 AI017727 BU731675 AA918360 
    N47127 BM694871 BF914451 AI423526 AI289858 CK905918 AJ010098 AA746220 
    NM_198125 AI302882 T57206 BX101840 CR542202 AI301688 AW372144 AA989053 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for TYROBP (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
    SP1:                                -                                       
    SP2:                          -     -                                       
    SP3:                                -                                       
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for TYROBP

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


    TYROBP expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Extraembryonic Mesoderm (Extraembryonic Tissues)
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
     
     Endothelium (Cardiovascular System)
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
     
     Lung (Respiratory System)
    TYROBP Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TYROBP Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.515369

    UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914
    Tissue specificity: Expressed at low levels in the early development of the hematopoietic system and in the
    promonocytic stage and at high levels in mature monocytes. Expressed in hematological cells and tissues such as
    peripheral blood leukocytes and spleen. Also found in bone marrow, lymph nodes, placenta, lung and liver.
    Expressed at lower levels in different parts of the brain especially in the basal ganglia and corpus callosum

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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 human and mouse.

    Orthologs for TYROBP gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tyrobp1 , 5 TYRO protein tyrosine kinase binding protein1, 5 75.6(n)1
    75(a)1
      7 (17.45 cM)5
    221771  NM_011662.21  NP_035792.11 
     304137885 


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

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

    (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 TYROBP (see all 175)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048947321,2
    Cpathogenic136558140(-) CTTCAC/TGGGGG 9 T M mis10--------
    rs1114802451,2
    F--36396681(+) GAAACG/CCCATC 5 -- int11Minor allele frequency- C:0.00CSA 1
    rs1136074931,2
    C,F--36396711(+) TTAGCC/TGGGTG 5 -- int11Minor allele frequency- T:0.50WA 2
    rs1115905531,2
    C,F--36397763(+) AGCTGT/GGATTA 5 -- int11Minor allele frequency- G:0.00CSA 1
    rs2001706751,2
    C--36553816(+) CCCAAA/GGTGAG 5 -- ds50010--------
    rs81064801,2
    C,F,A,H--36553845(+) CTGGAA/GGGTGT 5 -- ds50019Minor allele frequency- G:0.13NS EA CSA WA EU 843
    rs81051531,2
    C,F,H--36553869(+) GGAGGG/AGGTCC 5 -- ds500113Minor allele frequency- A:0.15NS CSA WA NA EA EU 1934
    rs1829614521,2
    --36553974(+) GGGGTC/TCCCAG 5 -- ds50010--------
    rs746109421,2
    C--36554121(+) TGGATG/AGTGTG 5 -- ds50012Minor allele frequency- A:0.13CSA WA 120
    rs1421049961,2
    C--36554270(+) CAGAA-/CCCCCC 5 -- ds50010--------

    HapMap Linkage Disequilibrium report for TYROBP (36395303 - 36399211 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for TYROBP:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv51n68CNV Loss17160897
    nsv911638CNV Loss21882294

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

    (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.)
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    OMIM gene information: 604142   
    OMIM disorders: 221770  
    UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]:
    Recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to
    presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most
    of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in
    the Finns. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 16 diseases for TYROBP:    About MalaCards
    tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy    polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy    large granular lymphocyte leukemia    osteopetrosis
    dementia    encephalomyelitis    systemic lupus erythematosus    lupus erythematosus
    ovarian cancer    tonsillitis    multiple myeloma    arthritis
    myeloma    leukemia    hepatitis    neuronitis

    1 disease from the University of Copenhagen DISEASES database for TYROBP:
    Osteopetrosis

    TYROBP for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for TYROBP gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nasu-hakola disease 97.9 35 9828133 (11), 17530208 (2), 10888890 (2), 16418779 (1) (see all 12)
    lipomembranous polycystic osteodysplasia 97.1 3 9828133 (1), 17530208 (1)
    dementia presenile 86.2 3 9828133 (1), 10888890 (1)
    bone cysts 78.2 4 15883308 (1), 20484116 (1), 10888890 (1)
    dementia 33.8 6 9828133 (1), 15883308 (1), 20484116 (1), 17530208 (1) (see all 5)
    inflammation 11.5 3 12651611 (2)
    calcification 3.59 1 15883308 (1)
    tumors 0 2 9828098 (1), 10404635 (1)

    GeneTests: TYROBP
    GeneReviews: TYROBP
    Genetic Association Database (GAD): TYROBP
    Human Genome Epidemiology (HuGE) Navigator: TYROBP (3 documents)

    Export disorders for TYROBP 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 TYROBP gene, integrated from 10 sources (see all 106):
    (articles sorted by number of sources associating them with TYROBP)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. (PubMed id 10888890)1, 2, 3, 9 Paloneva J.... Peltonen L. (Nat. Genet. 2000)
    2. Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells. (PubMed id 9490415)1, 2, 3 Lanier L.L.... Phillips J.H. (Nature 1998)
    3. TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development. (PubMed id 11922939)1, 2, 9 Gingras M.-C.... Margolin J.F. (Mol. Immunol. 2002)
    4. Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. (PubMed id 12370476)1, 2, 9 Kondo T....Yamamura T. (Neurology 2002)
    5. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility &quot;hot-spot&quot;. (PubMed id 20628624)1, 4 Johnatty S.E.... . (PLoS Genet. 2010)
    6. No evidence for shared etiology in two demyelinative disorders, MS and PLOSL. (PubMed id 19019460)1, 4 Sulonen A.M....Saarela J. (J. Neuroimmunol. 2009)
    7. Discovery of Siglec-14, a novel sialic acid receptor undergoing concerted evolution with Siglec-5 in primates. (PubMed id 17012248)1, 2 Angata T.... Nakamura M. (FASEB J. 2006)
    8. Molecular characterization of a novel immune receptor restricted to the monocytic lineage. (PubMed id 15557162)1, 2 Aguilar H.... Lopez-Botet M. (J. Immunol. 2004)
    9. 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. (Genome Res. 2004)
    10. Inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes. (PubMed id 10799849)1, 2 Bouchon A.... Colonna M. (J. Immunol. 2000)

    (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: 7305 HGNC: 12449 AceView: TYROBP Ensembl:ENSG00000011600 euGenes: HUgn7305
    ECgene: TYROBP Kegg: 7305 H-InvDB: TYROBP

    (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 TYROBP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TYROBP[genesymbol]

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

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



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