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HCST Gene

protein-coding   GIFtS: 54
GCID: GC19P036393

Hematopoietic Cell Signal Transducer

(Previous name: phosphoinositide-3-kinase adaptor protein)
(Previous symbol: PIK3AP)
Microbiology & Infectious Diseases Congress
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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
Hematopoietic Cell Signal Transducer1 2     Kinase Assoc Pro Of ~10kDa1 2
PIK3AP1 2 3     Membrane Protein DAP102 3
DNAX-Activation Protein 101 2 3     Transmembrane Adapter Protein KAP102 3
DAP102 3 5     KAP102 3
Phosphoinositide-3-Kinase Adaptor Protein1 2     Kinase Assoc Protein2

External Ids:    HGNC: 169771   Entrez Gene: 108702   Ensembl: ENSG000001262647   OMIM: 6040895   UniProtKB: Q9UBK53   

Export aliases for HCST gene to outside databases

Previous GC identifers: GC00U912965 GC19P041085 GC19P032898


(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 HCST Gene:
This gene encodes a transmembrane signaling adaptor that contains a YxxM motif in its cytoplasmic domain. The
encoded protein may form part of the immune recognition receptor complex with the C-type lectin-like receptor
NKG2D. As part of this receptor complex, this protein may activate phosphatidylinositol 3-kinase dependent
signaling pathways through its intracytoplasmic YxxM motif. This receptor complex may have a role in cell
survival and proliferation by activation of NK and T cell responses. Alternative splicing results in two
transcript variants encoding different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for HCST Gene:
HCST (hematopoietic cell signal transducer) is a protein-coding gene. Diseases associated with HCST include large granular lymphocyte leukemia, and congenital disorder of glycosylation. GO annotations related to this gene include phosphatidylinositol 3-kinase binding.

UniProtKB/Swiss-Prot: HCST_HUMAN, Q9UBK5
Function: Transmembrane adapter protein which associates with NKG2D to form an activation receptor NKG2D-HCST in
lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells
expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins
(ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and
tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with
NKG2D-DAP10 triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling
pathways. Both PIK3R1 and GRB2 are required for full NKG2D-HCST-mediated activation and ultimate killing of
target cells. In NK cells, NKG2D-HCST signaling directly induces cytotoxicity and enhances cytokine production
initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced
signals. NKG2D-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of
tumors cells; indeed, melanoma cells that do not express NKG2D ligands escape from immune surveillance mediated
by NK cells

Gene Wiki entry for HCST 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  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the HCST gene promoter:
         AML1a   Tal-1   HSF1 (long)   Gfi-1   C/EBPalpha   E47   c-Ets-1   SEF-1 (1)   HSF1short   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHCST promoter sequence
   Search Chromatin IP Primers for HCST

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


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

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036393:  view genomic region     (about GC identifiers)

Start:
36,393,382 bp from pter      End:
36,395,279 bp from pter
Size:
1,898 bases      Orientation:
plus 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: HCST_HUMAN, Q9UBK5 (See protein sequence)
Recommended Name: Hematopoietic cell signal transducer precursor  
Size: 93 amino acids; 9489 Da
Subunit: Interacts with CLEC5A (By similarity). Forms an CLEC5A/TYROBP/HCST trimolecular complex depending almost
solely on TYROBP (By similarity). Homodimer; Disulfide-linked. Interacts with NKG2D to form a stable complex,
which results in surface expression of both proteins, whereas alone, it is minimally expressed. Interacts with
PIK3R1 and GRB2
Miscellaneous: Silencing of HCST suppresses cytolytic activity of T-cells and NK cells
Secondary accessions: Q9UBS1 Q9Y3Y0
Alternative splicing: 2 isoforms:  Q9UBK5-1   Q9UBK5-2   

Explore the universe of human proteins at neXtProt for HCST: NX_Q9UBK5

Explore proteomics data for HCST at MOPED

Post-translational modifications: 

  • Phosphorylated; PIK3R1 and GRB2 associate specifically with tyrosine-phosphorylated HCST1
  • O-glycosylated1
  • Modification sites at neXtProt

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001007470.1  NP_055081.1  

    ENSEMBL proteins: 
     ENSP00000246551   ENSP00000400516  
    Reactome Protein details: Q9UBK5

    HCST Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for HCST


    (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:
     IPR009861 DAP10

    Graphical View of Domain Structure for InterPro Entry Q9UBK5

    ProtoNet protein and cluster: Q9UBK5

    UniProtKB/Swiss-Prot: HCST_HUMAN, Q9UBK5
    Similarity: Belongs to the DAP10 family


    HCST 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: HCST_HUMAN, Q9UBK5
    Function: Transmembrane adapter protein which associates with NKG2D to form an activation receptor NKG2D-HCST in
    lymphoid and myeloid cells; this receptor plays a major role in triggering cytotoxicity against target cells
    expressing cell surface ligands such as MHC class I chain-related MICA and MICB, and UL16-binding proteins
    (ULBPs); these ligands are up-regulated by stress conditions and pathological state such as viral infection and
    tumor transformation. Functions as docking site for PI3-kinase PIK3R1 and GRB2. Interaction of ULBPs with
    NKG2D-DAP10 triggers calcium mobilization and activation of the PIK3R1, MAP2K/ERK, and JAK2/STAT5 signaling
    pathways. Both PIK3R1 and GRB2 are required for full NKG2D-HCST-mediated activation and ultimate killing of
    target cells. In NK cells, NKG2D-HCST signaling directly induces cytotoxicity and enhances cytokine production
    initiated via DAP12/TYROBP-associated receptors. In T-cells, it provides primarily costimulation for TCR-induced
    signals. NKG2D-HCST receptor plays a role in immune surveillance against tumors and is required for cytolysis of
    tumors cells; indeed, melanoma cells that do not express NKG2D ligands escape from immune surveillance mediated
    by NK cells
    Induction: By T-cell receptor (TCR) ligation, which leads to enhanced NKG2D-HCST cell surface expression.
    Down-regulated by IL21/interleukin-21 in T-cells and NK cells

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005102receptor binding IPI15294961
    GO:0005515protein binding IPI10426994
    GO:0043548phosphatidylinositol 3-kinase binding IDA10426994
         
    HCST for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Hcst):
     cellular  embryogenesis  hematopoietic system  homeostasis/metabolism  immune system 
     mortality/aging  no phenotypic analysis  reproductive system  skeleton  tumorigenesis 

    HCST for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for HCST: Hcst/TyrobpHcst/tm1Ttk Hcsttm1.1Cln Hcsttm1.1Dnax Hcsttm1Cln

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HCST
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HCST

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

    miRNA
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    miRTarBase miRNAs that target HCST:
    hsa-mir-335-5p (MIRT018108)

    Block miRNA regulation of human, mouse, rat HCST using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate HCST
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat HCST

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    OriGene ORF clones in mouse, rat for HCST
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): HCST (NM_014266)
    Sino Biological Human cDNA Clone for HCST
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HCST
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HCST

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HCST 
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCST


    (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
    HCST_HUMAN, Q9UBK5: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0009986cell surface IDA10426994
    GO:0016021integral component of membrane IEA--

    HCST 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 HCST About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    2Immune response Role of DAP12 receptors in NK cells
    Natural killer cell mediated cytotoxicity0.31
    3Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for HCST
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


    1 Kegg Pathway  (Kegg details for HCST):
        Natural killer cell mediated cytotoxicity


    HCST for pathways           About GeneDecksing

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

        GeneGlobe Interaction Network for HCST

    STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

    Selected Interacting proteins for HCST (Q9UBK53 ENSP000002465514) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KLRK1P267183, ENSP000002406184I2D: score=4 STRING: ENSP00000240618
    PIK3R1P279863, ENSP000002743354I2D: score=1 STRING: ENSP00000274335
    SPOPO437913, ENSP000002403274I2D: score=1 STRING: ENSP00000240327
    IL2RBP147843I2D: score=1 
    IL2RGP317853I2D: score=1 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0014068positive regulation of phosphatidylinositol 3-kinase signaling IDA10426994
    GO:0050776regulation of immune response TAS--

    HCST 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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HCST

    1 HMDB Compound for HCST    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    2 Novoseek inferred chemical compound relationships for HCST gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phosphatidylinositol 50.2 3 15048706 (1), 12591902 (1)
    lysine 35.1 1 17483134 (1)



    HCST 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 HCST gene (2 alternative transcripts): 
    NM_001007469.1  NM_014266.3  

    Unigene Cluster for HCST:

    Hematopoietic cell signal transducer
    Hs.117339  [show with all ESTs]
    Unigene Representative Sequence: CD049497
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000246551(uc002ocl.1) ENST00000437550(uc002ock.1)
    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate HCST
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    OriGene RNAi products in human, mouse, rat for HCST
    Predesigned siRNA for gene silencing in human, mouse, rat HCST
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    GenScript: all cDNA clones in your preferred vector (see all 2): HCST (NM_014266)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HCST
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      QuantiTect SYBR Green Assays in human, mouse, rat HCST
      QuantiFast Probe-based Assays in human, mouse, rat HCST

    Additional mRNA sequence: 

    AF072844.1 AF122904.1 AF172929.1 AF285447.1 AL050163.1 AY359058.1 BC035931.1 BC046348.1 
    BC065224.1 

    5 DOTS entries:

    DT.310625  DT.92417866  DT.95239707  DT.121425007  DT.92326850 

    Selected AceView cDNA sequences (see all 39):

    AI308984 AI357959 AA937996 AA903621 NM_014266 BP431547 AL050163 AJ714110 
    AI148117 BC035931 BC065224 AJ713188 AY359058 AF122904 AA973777 BC046348 
    AI582746 AF072844 AA894359 AA699808 AI141733 BI753833 AA829607 AA309780 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HCST    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4
    SP1:                              
    SP2:                              


    ECgene alternative splicing isoforms for HCST

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


    HCST expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 13 entries
             Peripheral Blood Monocytes (PB CD14+)   
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 4 entries
             Cord Blood Pan-T Cells   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Fetal Liver CD34+ Cells   
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Spleen (Hematopoietic System)
    HCST Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HCST Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.117339

    UniProtKB/Swiss-Prot: HCST_HUMAN, Q9UBK5
    Tissue specificity: Predominantly expressed in hemopoietic cells such as NK cells, subset of T-cells and
    monocytes. Detected in leukocytes, spleen, and thymus

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HCST

    (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 HCST gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hcst1 , 5 hematopoietic cell signal transducer1, 5 80(n)1
    81.33(a)1
      7 (17.45 cM)5
    239001  NM_011827.31  NP_035957.21 
     304177175 


    ENSEMBL Gene Tree for HCST (if available)
    TreeFam Gene Tree for HCST (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 HCST (see all 37)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1897819821,2
    --36393660(+) CTGGGA/TGATCC 2 -- int10--------
    rs1827110461,2
    --36393690(+) GTCCTC/TGGGGG 2 -- int10--------
    rs1167955791,2
    F--36393741(+) TTAGCG/ATCCCC 2 -- int11Minor allele frequency- A:0.02WA 118
    rs605933721,2
    C,F--36393817(+) CCTTCC/GCATGT 2 -- int12Minor allele frequency- G:0.14WA 120
    rs1858721211,2
    --36393916(+) GAGATA/GGGGTC 2 -- int10--------
    rs1489101321,2
    --36393937(+) GTCCAA/GGCTGG 2 -- int10--------
    rs1155007011,2
    C,F--36393969(+) CTCACG/AGCAGC 2 -- int11Minor allele frequency- A:0.04WA 118
    rs1915627431,2
    --36394181(+) AGCCAC/TGGTGC 2 -- int10--------
    rs742581621,2
    C,F--36394245(+) TCTCTT/CTCCAC 2 -- int15Minor allele frequency- C:0.02CSA WA NA EA EU 1683
    rs339642431,2
    C,F--36394272(+) ACGACT/CCCAGG 4 /T syn19Minor allele frequency- C:0.13NA WA CSA EA EU 6203

    HapMap Linkage Disequilibrium report for HCST (36393382 - 36395279 bp)

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

    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 604089    OMIM disorders: --

    6 diseases for HCST:    About MalaCards
    large granular lymphocyte leukemia    congenital disorder of glycosylation    crohn's disease    tuberculosis
    melanoma    leukemia


    HCST for disorders           About GeneDecksing

    Human Genome Epidemiology (HuGE) Navigator: HCST (1 document)

    Export disorders for HCST 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 HCST gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with HCST)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An activating immunoreceptor complex formed by NKG2D and DAP10. (PubMed id 10426994)1, 2, 3 Wu J....Phillips J.H. (Science 1999)
    2. Molecular cloning and characterization of pig immunoreceptor DAP10 and NKG2D. (PubMed id 11398969)1, 2, 9 Yim D.... Kim Y.B. (Immunogenetics 2001)
    3. DAP10 and DAP12 form distinct, but functionally cooperative, receptor complexes in natural killer cells. (PubMed id 11015446)1, 2, 9 Wu J.... Lanier L.L. (J. Exp. Med. 2000)
    4. Silencing human NKG2D, DAP10, and DAP12 reduces cytotoxicity of activated CD8+ T cells and NK cells. (PubMed id 16339517)1, 2 Karimi M....Negrin R.S. (J. Immunol. 2005)
    5. NKG2D-DAP10 triggers human NK cell-mediated killing via a Syk- independent regulatory pathway. (PubMed id 12740575)1, 2 Billadeau D.D.... Leibson P.J. (Nat. Immunol. 2003)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. KAP10, a novel transmembrane adapter protein genetically linked to DAP12 but with unique signaling properties. (PubMed id 10528161)1, 2 Chang C.... Wilson M.J. (J. Immunol. 1999)
    8. Regulation of human DAP10 gene expression in NK and T cells by Ap-1 transcription factors. (PubMed id 18097042)2, 9 Marusina A.I....Coligan J.E. (J. Immunol. 2008)
    9. A critical role for DAP10 and DAP12 in CD8+ T cell-mediated tissue damage in large granular lymphocyte leukemia. (PubMed id 19075187)1, 9 Chen X....Wei S. (Blood 2009)
    10. NKG2D-mediated signaling requires a DAP10-bound Grb2-Vav1 intermediate and phosphatidylinositol-3-kinase in human natural killer cells. (PubMed id 16582911)2, 9 Upshaw J.L....Leibson P.J. (Nat. Immunol. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 10870 HGNC: 16977 AceView: HCST Ensembl:ENSG00000126264 euGenes: HUgn10870
    ECgene: HCST Kegg: 10870 H-InvDB: HCST

    (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 HCST 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 HCST gene:
    Search GeneIP for patents involving HCST

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



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