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ZAP70 Gene

protein-coding   GIFtS: 72

GC02P097788
zeta-chain (TCR) associated protein kinase 70kDa
(Previous name: zeta-chain (TCR) associated protein kinase (70 kD) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: SRK)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
EC 2.7.10.2 3
FLJ17670 2
FLJ17679 2
SRK 2, 3, 5
STD 1, 2, 5
TZK 2
ZAP-70 1, 2
Descriptions
70 kDa zeta-associated protein 3
Syk-related tyrosine kinase 2, 3
zeta-chain (TCR) associated protein kinase (70 kD) 1, 2
zeta-chain (TCR) associated protein kinase 70kDa 2
zeta-chain associated protein kinase 70kDa 2
zeta-chain associated protein kinase, 70kD 2
External Ids
HGNC: 128581
Entrez Gene: 75352
UniProtKB: P434033
Ensembl: ENSG000001150857
Search outside databases for aliases for ZAP70 gene

Previous GC identifers: GC02P096211 GC02P096782 GC02P097934 GC02P097951

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for ZAP70:
This gene encodes an enzyme belonging to the protein tyrosine kinase family, and it plays a role in
T-cell development and lymphocyte activation. This enzyme, which is phosphorylated on tyrosine
residues upon T-cell antigen receptor (TCR) stimulation, functions in the initial step of
TCR-mediated signal transduction in combination with the Src family kinases, Lck and Fyn. This
enzyme is also essential for thymocyte development. Mutations in this gene cause selective T-cell
defect, a severe combined immunodeficiency disease characterized by a selective absence of
CD8-positive T-cells. Two transcript variants that encode different isoforms have been found for
this gene. [provided by RefSeq]

UniProtKB/Swiss-Prot: ZAP70_HUMAN, P43403
Function: Plays a role in T-cell development and lymphocyte activation. Essential for TCR-mediated
IL-2 production. Isoform 1 induces TCR-mediated signal transduction, isoform 2 does not

Gene Wiki entry for ZAP70 (ZAP-70)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the ZAP70 gene  

Entrez Gene cytogenetic band: 2q12   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11-q13

ZAP70 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P097788:     (about GC identifiers)

Start:
97,696,463 bp from pter
End:
97,722,755 bp from pter
Size:
26,293 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000002.10  NT_022171.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
About This Section

UniProtKB/Swiss-Prot: ZAP70_HUMAN, P43403 (See protein sequence)
Recommended Name: Tyrosine-protein kinase ZAP-70  
Size: 619 amino acids; 69872 Da
Subunit: Interacts with SLA2 when it is phosphorylated. Interacts with CD3Z and with phosphorylated
NFAM1. Interacts with CBLB (By similarity). Interacts with CBL and SLA when it is phosphorylated.
The association with SLA (or SLA2) and CBL probably leads to its destruction. Interacts with SHB.
Interacts with DEF6 (By similarity). Interacts with FCRL3
Subcellular location: Cytoplasm (By similarity). Note=After antigen stimulation, isoform 1
concentrates at the immunological synapse and isoform 2 remains cytoplasmic (By similarity)
PDB structures from and Proteopedia :
1M61 (3D)    1U59 (3D)    2OQ1 (3D)    2OZO (3D)    
Secondary accessions: A6NFP4 Q6PIA4 Q8IXD6 Q9UBS6
Alternative splicing: 3 isoforms:  P43403-1   P43403-2   P43403-3   

Post-translational modifications:

  • Phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation. Tyr-319
    phosphorylation is essential for full activity1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins (2 alternative transcripts): 
    NP_001070.2  NP_997402.1  


    ENSEMBL proteins: 
    ENSP00000264972 ENSP00000374169 


    Human Recombinant Proteins 
    Invitrogen human recombinant proteins for ZAP70
    Millipore Purified and/or Recombinant ZAP70 Protein
    Sigma-Aldrich Proteins for ZAP70  
    R&D Systems Recombinant & Natural Proteins for ZAP70
    Enzo Life Sciences proteins for ZAP70
    Recombinant Proteins from Abcam (ZAP70)
    Human Recombinant Proteins from Abnova (ZAP70)
                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005730NOT nucleolus IDA18029348
    GO:0005737 cytoplasm TAS12359715
    GO:0005829 cytosol EXP11048639 17652306
    GO:0042101 T cell receptor complex IDA8176201
    About this table

    Antibodies for ZAP70: 
    Invitrogen Antibodies for ZAP70
    Millipore Mono- and Polyclonal Antibodies for the study of ZAP70
    Sigma-Aldrich Antibody Arrays and Antibodies for ZAP70
    R&D Systems Antibodies for ZAP70
    Cell Signaling Technology (CST) Antibodies for ZAP70  (Zap-70)
    Antibodies from Abcam (ZAP70), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ZAP70)
    Novus Biologicals Antibodies for ZAP70

    Assays for ZAP70: 
    Invitrogen Assays for ZAP70
    Millipore Kits and Assays for the Analysis of ZAP70
    Browse R&D Systems for biochemical assays
    Cell Signaling Technology (CST) Sandwich ELISA Kits for ZAP70 (Zap-70)
    Browse biochemical assays available from Enzo Life Sciences

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    5/6 InterPro domains/families (see all 6 ):
     IPR012234 Tyr_kinase_SYK
     IPR017441 Protein_kinase_ATP_BS
     IPR000719 Prot_kinase_core
     IPR001245 Tyr_pkinase
     IPR000980 SH2


       GeneDecks  ZAP70 for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P43403

    ProtoNet protein and cluster: P43403

    2 Blocks protein families:
    IPB000980 SH2 domain signature
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: ZAP70_HUMAN, P43403
    Domain: The SH2 domain binds to the phosphorylated tyrosine-based activation motif (TAM) of CD3Z
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. SYK/ZAP-70
    subfamily
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 2 SH2 domains

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ZAP70)
    Millipore RNAi Products for the Analysis of ZAP70 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (ZAP70)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_207519

                  Applied Biosystems Silencer® siRNAs for ZAP70

                  Sigma-Aldrich siRNA and siRNA Panels for ZAP70  
                         Sigma-Aldrich shRNA Panels and shRNA for ZAP70  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Invitrogen Clones for ZAP70
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001079
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001079
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001079 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_001079

    UniProtKB/Swiss-Prot: ZAP70_HUMAN, P43403
    Function: Plays a role in T-cell development and lymphocyte activation. Essential for TCR-mediated
    IL-2 production. Isoform 1 induces TCR-mediated signal transduction, isoform 2 does not
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme Number (IUBMB): EC 2.7.10.2 

    Genatlas biochemistry entry for ZAP70:
    CD3 zeta associated tyrosine kinase,SYK (non SRC) family,expressed in T and NK cells,involved in
    signal transduction

    6 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Zap70):

    hematopoietic systemimmune systemnormalrespiratory systemskeleton
    skin/coat/nails

    5 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166 nucleotide binding IEA--
    GO:0004715 non-membrane spanning protein tyrosine kinase activity IEA--
    GO:0005515 protein binding IPI7528772 11891219 12359715 12646565
    GO:0005524 ATP binding NAS1423621
    GO:0016740 transferase activity IEA--
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    5/10 Invitrogen iPath™ Online BioAtlas - Pathways for ZAP70 (see all 10 ) (Maps provided by GeneGo):
     Rap1A regulation pathway
     CD28 signaling
     Regulation of RAC1 activity
     TCR and CD28 co-stimulation in activation of NF-kB
     T cell receptor signaling pathway

       GeneDecks  ZAP70 for the pathways selected above  
    About GeneDecksing

    5/12 Millipore Pathways for ZAP70 (see all 12 )
     Immune response CD16 signaling in NK cells
     Immune response Role of DAP12 receptors in NK cells
     Signal transduction IP3 signaling
     Immune response NFAT in immune response
     Immune response CD28 signaling

       GeneDecks  ZAP70 for the pathways selected above  
    About GeneDecksing

    5/9 Sigma-Aldrich "Your Favorite Gene" Pathways for  ZAP70  (Your Favorite Gene powered by Ingenuity) (see all 9
     iCOS-iCOSL Signaling in T Helper Cells
     Calcium-induced T Lymphocyte Apoptosis
     Natural Killer Cell Signaling
     CD28 Signaling in T Helper Cells
     Primary Immunodeficiency Signaling

       GeneDecks  ZAP70 for the pathways selected above  
    About GeneDecksing

    1 Cell Signaling Technology (CST) Pathway for ZAP70: 
     T Cell Receptor Signaling

       GeneDecks  ZAP70 for the pathways selected above  
    About GeneDecksing

    3 Kegg Pathways  (Kegg details for ZAP70):
     hsa04650 Natural killer cell mediated cytotoxicity
     hsa04660 T cell receptor signaling pathway
     hsa05340 Primary immunodeficiency

       GeneDecks  ZAP70 for the pathways selected above  
    About GeneDecksing
     Gene Network CentralTM Interacting Genes and Proteins Network for  ZAP70 


    5/122 Interacting proteins for ZAP70 (ENSP000002649723 P434031, 2) via UniProtKB, MINT, and/or STRING (see all 122 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTPN22Q9Y2R21STRING (score=.958) EBI-1211276, EBI-1211241
    SHC1P293532STRING (score=.999) MINT-60980
    LCKP062391, 2STRING (score=.999) EBI-1211276, EBI-1348 MINT-59476 EBI-1211276, EBI-1348 MINT-59476
    LCKP062391, 2STRING (score=.999) EBI-1211276, EBI-1348 MINT-59476 EBI-1211276, EBI-1348 MINT-59476
    EGFRP005332MINT-74807
    About this table

    5/6 Gene Ontology (GO) biological process terms (links to tree view) (see all 6 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468 protein amino acid phosphorylation NAS1423621
    GO:0006955 immune response IDA1423621
    GO:0007165 signal transduction IEA--
    GO:0007243 protein kinase cascade NAS1423621
    GO:0045059 positive thymic T cell selection IDA7630421
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for ZAP70
    10/22 Novoseek chemical compound relationships for ZAP70 gene (see all 22 )
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 84.90 480 11744042 (8), 8530437 (5), 7760813 (5), 7642520 (5) (see all 99)
    phosphotyrosine 64.67 8 8196616 (1), 12356870 (1), 7822334 (1), 8520027 (1) (see all 7)
    piceatannol 51.75 3 17250586 (1), 9723676 (1)
    calcium 32.72 19 10748099 (1), 19018007 (1), 8096851 (1), 11588032 (1) (see all 18)
    phosphatidylinositol 31.33 7 15100278 (2), 8096851 (1), 9195899 (1), 11418612 (1) (see all 6)
    phenylalanine 22.07 6 10779765 (1), 10318843 (1), 11046020 (1), 15100278 (1) (see all 6)
    purine 14.91 2 19373658 (1), 17051411 (1)
    threonine 9.40 4 16369048 (1), 10725390 (1)
    sodium 2.95 1 11566569 (1)
    oxygen 0.82 1 11744042 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (ZAP70)
    Millipore RNAi Products for the Analysis of ZAP70 Gene knock-down
    Abnova Chimera RNAi Products for Gene knock-down (ZAP70)
                   OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_207519

                  Sigma-Aldrich siRNA and siRNA Panels for ZAP70  
                         Sigma-Aldrich shRNA Panels and shRNA for ZAP70  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_001079  NM_207519  

    REFSEQ mRNAs for ZAP70 gene (2 alternative transcripts): 

    NM_001079.3   NM_207519.1   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_001079  NM_207519  

                   OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_001079
                                     Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_001079
                                     untagged cDNA clones in CMV expression vector (see all 3): NM_001079 

    Additional cDNA sequence: 

    AB083211.1 AK303341.1 AK310637.1 BC039039.1 BC053878.1 L05148.1 

    8 DOTS entries:

    DT.302578  DT.100019754  DT.100019752  DT.95142057  DT.100019753  DT.100750057  DT.100727964  DT.97782684 

    24/54 AceView cDNA sequences (see all 54 ):

    NM_207519 BC039039 BQ054223 BE254072 L05148 AI473901 AJ346204 BX092836 
    BM916976 AB083211 BQ051966 AI382267 AL832287 AA353108 NM_001079 BC053878 
    BM917637 T28969 AW448979 BQ436251 AI817942 BX436681 BQ053003 BI826450 

    highest scoring ESTs for ZAP70:

    L05148 AA353108 AB083211 AI382267 AI473901 AI817942 AJ346204 AJ573211 AJ713075 AL832287 

    Unigene Cluster for ZAP70:

    Zeta-chain (TCR) associated protein kinase 70kDa
    Hs.234569  [show with all ESTs]
    Unigene Representative Sequence: BC053878


    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for ZAP70 (see all 9 )

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a · 16b · 16c ^ 17a ·
    SP1:        -                       -     -           -                                   -                 -                                         -         
    SP2:                                                  -                                   -                 -                                         -         
    SP3:                                                                                                                                                  -         
    SP4:                                                  -                                   -     -                                                               
    SP5:                                                                                                        -                                         -         

    ExUns: 17b
    SP1:      
    SP2:      
    SP3:      
    SP4:      
    SP5:      

    About this scheme

    ECgene alternative splicing isoforms for ZAP70

    2 Ensembl transcripts including schematic representations:
    ENST00000264972  ENST00000389518  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    ZAP70 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ZAP70

    1 / 2 / 3

    4 probe-sets matching ZAP70 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    1498_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 L05148 1.00 1.00 1.00 1

    214032_at2, 3 U133-A 1 1.00 1.00 -- -- AI817942 0.80 1.00 0.91 1

    1555613_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    214032_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ZAP70 for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: CGAGCCTGTT

    SOURCE GeneReport for Unigene cluster: Hs.234569

    Expression variation in blood from EXPOLDB for ZAP70

    UniProtKB/Swiss-Prot: ZAP70_HUMAN, P43403
    Tissue specificity: Expressed in T- and natural killer cells

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for ZAP70 gene from 5/7 species (see all 7 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    chimpanzee
    (Pan troglodytes)
    ZAP701   -- zeta-chain (TCR) associated protein kinase 70kDa 99.57(n)
    99.84(a)
    459427  XM_515637.2  XP_515637.2 
    cow
    (Bos taurus)
    ZAP701   -- zeta-chain (TCR) associated protein kinase 70kDa 90.1(n)
    94.16(a)
    504509  XM_865562.2  XP_870655.1 
    rat
    (Rattus norvegicus)
    Zap701   -- zeta-chain (TCR) associated protein kinase 88.15(n)
    93.8(a)
    301348  NM_001012002.1  NP_001012002.1 
    mouse
    (Mus musculus)
    Zap701, 5 1 (20.50 cM)5
    zeta-chain (TCR) associated protein kinase1, 5 87.88(n)1
    94.16(a)1
    226371  NM_009539.21  NP_033565.21 
     AB0832105  AB0843835  (see all 11)
    chicken
    (Gallus gallus)
    ZAP701   -- zeta-chain (TCR) associated protein kinase 70kDa 72.45(n)
    75.85(a)
    420086  XM_418206.2  XP_418206.2 
    About this table        Species with no ortholog for ZAP70

    ENSEMBL Gene Tree for ZAP70
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for ZAP70 gene
    SYK2  TNK22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/193 NCBI SNPs in ZAP70 are shown (see all 193 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 55)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 2 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs22766451,2
    C,F,H,O97696484(-) AGCAGG/TCTTGT 1 -- ut5112Minor allele frequency- T:0.22EA NA EU WA 2478
    rs116785581,2
    A,C,F,H97722422(+) TCCACG/ACCGGC 2 -- ut31 ese34Minor allele frequency- A:0.11EU EA WA 408
    rs130343491,2
    C,F,H97695629(+) GAGTGC/TATGAG 1 -- ng514Minor allele frequency- T:0.21EU EA WA 408
    rs8954371,2
    C,F,H97716778(+) GGTCAC/TTGTGT 2 -- int1 ng517Minor allele frequency- T:0.05NA EU EA WA 560
    rs22786991,2
    C,F,H97722682(-) CAGGGC/GCCAGG 2 -- ut31 ese39Minor allele frequency- G:0.15EA EU WA 2324
    rs31921771,2
    C,F,H,O97720943(+) ATGGAG/ATGCCC 2 E/E syn19Minor allele frequency- A:0.21MN NA EU EA WA 810
    rs118895731,2
    C,H97720774(+) TCCTAC/TGGCCA 2 Y/Y syn1 ese34Minor allele frequency- T:0.00EU EA WA 406
    rs67125171,2
    A,C,F,H97706796(+) TGGCGC/AGCTCA 1 -- int17Minor allele frequency- A:0.31EU EA WA NA 558
    rs65430621,2
    A,C,F,H97713571(+) gctCCC/TTAATA 1 -- int14Minor allele frequency- T:0.03EU EA WA 418
    rs67147101,2
    A,C,F,H97711518(+) AGATTT/GAATTG 1 -- int112Minor allele frequency- G:0.44EU EA WA NA 1046
    About this table

    HapMap Linkage Disequilibrium images for ZAP70 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 176947

    UniProtKB/Swiss-Prot: ZAP70_HUMAN, P43403

  • Defects in ZAP70 are the cause of selective T-cell defect (STD) [MIM:176947]. STD is an
    autosomal recessive form of severe combined immunodeficiency characterized by a selective absence
    of CD8-type T-cells
  • 10/42 Novoseek disease relationships for ZAP70 gene (see all 42 )

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia lymphocytic chronic 90.83 82 15972449 (2), 16418492 (2), 16321853 (2), 17948236 (2) (see all 62)
    lymphocytic leukemia chronic b-cell 87.67 40 18223290 (4), 15759031 (2), 17476690 (2), 16906587 (2) (see all 28)
    leukaemia lymphocytic 76.05 31 16932341 (2), 17456058 (2), 19144411 (2), 17625948 (2) (see all 21)
    severe combined immunodeficiency 57.75 10 8202712 (2), 9801260 (1), 12149205 (1), 8920891 (1) (see all 9)
    lymphoma small lymphocytic 52.03 5 15133473 (1), 16280661 (1), 16426914 (1), 18348159 (1) (see all 5)
    lymphocytosis 49.21 1 18689273 (1)
    leukemia b-cell 48.49 3 14523469 (1), 12393534 (1), 17051411 (1)
    trisomy 47.92 5 16434371 (1), 18223290 (1), 18689273 (1), 17143256 (1) (see all 5)
    leukemia t-cell 43.13 7 17178387 (2), 7524094 (1), 16369048 (1), 18687687 (1)
    leukemia prolymphocytic 40.14 2 15133473 (1), 16642047 (1)
    About this table

    Genatlas disease: ZAP70
    immunodeficiency,severe,combined with selective absence of peripheral CD8+ cells,and presence of
    CD4+ T cells,not responding to TCR mediated stimuli in vitro

    Human Gene Mutation Database: ZAP70
    Tumor Gene Database: ZAP70

    (Possibly Related Articles in Doctor's Guide)
    About This Section

    (in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
    About This Section

    10/573 PubMed articles for ZAP70 gene (see all 573 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     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, and/or H-InvDB)
    About This Section

    Entrez Gene: 7535 HGNC: 12858 AceView: ZAP70 Ensembl:ENSG00000115085 euGenes: HUgn7535
    ECgene: ZAP70 H-InvDB: ZAP70
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    ATLAS Chromosomes in Cancer entry for ZAP70 Genetics and Cytogenetics in Oncology and Haematology
    ZAP70basehttp://bioinf.uta.fi/ZAP70base/
    GeneReviewshttp://www.genetests.org/query?gene=ZAP70
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



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