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Aliases for ZAP70 Gene

Aliases for ZAP70 Gene

  • Zeta Chain Of T Cell Receptor Associated Protein Kinase 70 2 3 5
  • Zeta Chain Of T Cell Receptor Associated Protein Kinase 70kDa 2 3
  • Zeta-Chain (TCR) Associated Protein Kinase 70kDa 2 3
  • 70 KDa Zeta-Chain Associated Protein 3 4
  • Tyrosine-Protein Kinase ZAP-70 2 3
  • Syk-Related Tyrosine Kinase 3 4
  • EC 2.7.10.2 4 61
  • SRK 3 4
  • Zeta-Chain (TCR) Associated Protein Kinase (70 KD) 2
  • Zeta-Chain Associated Protein Kinase, 70kD 3
  • 70 KDa Zeta-Associated Protein 3
  • EC 2.7.10 61
  • ADMIO2 3
  • ZAP-70 3
  • IMD48 3
  • STCD 3
  • STD 3
  • TZK 3

External Ids for ZAP70 Gene

Previous HGNC Symbols for ZAP70 Gene

  • SRK

Previous GeneCards Identifiers for ZAP70 Gene

  • GC02P096211
  • GC02P096782
  • GC02P097934
  • GC02P097951
  • GC02P097788
  • GC02P098331
  • GC02P092095

Summaries for ZAP70 Gene

Entrez Gene Summary for ZAP70 Gene

  • 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, Jul 2008]

GeneCards Summary for ZAP70 Gene

ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70) is a Protein Coding gene. Diseases associated with ZAP70 include Selective T-Cell Defect and Autoimmune Disease, Multisystem, Infantile-Onset, 2. Among its related pathways are Immune response NFAT in immune response and Immune System. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is SYK.

UniProtKB/Swiss-Prot for ZAP70 Gene

  • Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Contributes also to the development and activation of primary B-lymphocytes. When antigen presenting cells (APC) activate T-cell receptor (TCR), a serie of phosphorylations lead to the recruitment of ZAP70 to the doubly phosphorylated TCR component CD247/CD3Z through ITAM motif at the plasma membrane. This recruitment serves to localization to the stimulated TCR and to relieve its autoinhibited conformation. Release of ZAP70 active conformation is further stabilized by phosphorylation mediated by LCK. Subsequently, ZAP70 phosphorylates at least 2 essential adapter proteins: LAT and LCP2. In turn, a large number of signaling molecules are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation. Furthermore, ZAP70 controls cytoskeleton modifications, adhesion and mobility of T-lymphocytes, thus ensuring correct delivery of effectors to the APC. ZAP70 is also required for TCR-CD247/CD3Z internalization and degradation through interaction with the E3 ubiquitin-protein ligase CBL and adapter proteins SLA and SLA2. Thus, ZAP70 regulates both T-cell activation switch on and switch off by modulating TCR expression at the T-cell surface. During thymocyte development, ZAP70 promotes survival and cell-cycle progression of developing thymocytes before positive selection (when cells are still CD4/CD8 double negative). Additionally, ZAP70-dependent signaling pathway may also contribute to primary B-cells formation and activation through B-cell receptor (BCR).

Gene Wiki entry for ZAP70 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ZAP70 Gene

Genomics for ZAP70 Gene

Regulatory Elements for ZAP70 Gene

Enhancers for ZAP70 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F097712 1.3 FANTOM5 ENCODE 38 +2.7 2666 7.6 ATF1 SIN3A FEZF1 FOS KLF13 ZNF488 KAT8 CREB3 MEF2D MIER3 ZAP70 ACTR1B ANKRD36B UNC50 FAHD2B LINC01125 LMAN2L COX5B ENSG00000235833 HMGN1P36
GH02F097660 1.1 ENCODE 32.5 -50.8 -50767 5.0 HDGF PKNOX1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF207 ZNF143 ANKRD36B ZAP70 UNC50 LOC100506123 LINC01125 ACTR1B PIR38581
GH02F097867 1.6 FANTOM5 Ensembl ENCODE 10.9 +156.6 156575 5.2 HDGF PKNOX1 MLX ARID4B SIN3A ZNF48 YY1 CBX5 FOS SP5 TMEM131 RNU7-96P ZAP70 ANKRD36B LINC01125 GC02M097914 GC02P097828
GH02F097673 1.4 FANTOM5 Ensembl ENCODE 12 -39.8 -39810 1.3 TBP PKNOX1 ATF1 TBL1XR1 BMI1 GATA2 CREM ZBTB11 JUNB ZEB2 ANKRD36B COX5B ZAP70 FAHD2B TMEM131 PIR32897 RNU4-8P
GH02F096916 1 ENCODE 15.1 -794.7 -794715 5.3 HDGF ATF1 PKNOX1 ARNT GATA2 NCOA1 REST MBD2 MEF2D SMARCA4 ZAP70 NCAPH FAM178B CIAO1 SNRNP200 LOC101927053 SEMA4C
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ZAP70 on UCSC Golden Path with GeneCards custom track

Promoters for ZAP70 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001544510 640 1201 BCOR ELF3 SAP130 ZMYM3 DNMT3B RARA TEAD3 POLR2A HOMEZ MAFK

Genomic Location for ZAP70 Gene

Chromosome:
2
Start:
97,713,560 bp from pter
End:
97,744,327 bp from pter
Size:
30,768 bases
Orientation:
Plus strand

Genomic View for ZAP70 Gene

Genes around ZAP70 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ZAP70 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ZAP70 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ZAP70 Gene

Proteins for ZAP70 Gene

  • Protein details for ZAP70 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43403-ZAP70_HUMAN
    Recommended name:
    Tyrosine-protein kinase ZAP-70
    Protein Accession:
    P43403
    Secondary Accessions:
    • A6NFP4
    • Q6PIA4
    • Q8IXD6
    • Q9UBS6

    Protein attributes for ZAP70 Gene

    Size:
    619 amino acids
    Molecular mass:
    69872 Da
    Quaternary structure:
    • Interacts with NFAM1. Interacts with adapter proteins SLA and SLA2; these interactions negatively regulates T-cell receptor signaling. Interacts with CBLB (By similarity). Interacts with DEF6. Interacts (via SH2 domains) with RHOH; this interaction regulates ZAP70 subcellular localization (By similarity). Interacts with FCRL3. Interacts with VAV1. Interacts with CD247/CD3Z; this interaction docks ZAP70 at the stimulated TCR. Interacts with CBL; this interaction promotes ubiquitination, internalization and subsequent degradation of CD247/CD3Z. Identified in a complex with CBL and UBE2L3.

    Three dimensional structures from OCA and Proteopedia for ZAP70 Gene

    Alternative splice isoforms for ZAP70 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZAP70 Gene

Selected DME Specific Peptides for ZAP70 Gene

P43403:
  • RDLAARN
  • EKLIATTAHE
  • QLDNPYIVR
  • SYGQKPY
  • SDVWSYGVT
  • MGMKYLEE
  • AARNVLL
  • KWYAPECIN
  • ALEQAIISQ
  • HYAKISDFGLSKAL
  • FVHRDLA
  • NFVHRDLAARNVL

Post-translational modifications for ZAP70 Gene

  • Phosphorylated on tyrosine residues upon T-cell antigen receptor (TCR) stimulation. Phosphorylation of Tyr-315 and Tyr-319 are essential for ZAP70 positive function on T-lymphocyte activation whereas Tyr-292 has a negative regulatory role. Within the C-terminal kinase domain, Tyr-492 and Tyr-493 are phosphorylated after TCR induction, Tyr-492 playing a negative regulatory role and Tyr-493 a positive. Tyr-493 is dephosphorylated by PTN22.
  • Ubiquitination at Lys 25, Lys 75, Lys 100, Lys 132, Lys 151, Lys 176, Lys 193, Lys 217, Lys 361, Lys 362, Lys 377, Lys 455, Lys 484, Lys 556, Lys 603, and Lys 613
  • Modification sites at PhosphoSitePlus

Other Protein References for ZAP70 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ZAP70 (ZAP70)
  • Cloud-Clone Corp. Antibodies for ZAP70

Domains & Families for ZAP70 Gene

Suggested Antigen Peptide Sequences for ZAP70 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P43403

UniProtKB/Swiss-Prot:

ZAP70_HUMAN :
  • Composed of 2 N-terminal SH2 domains and a C-terminal kinase domain. The tandem SH2 domains bind to the doubly phosphorylated tyrosine-based activation motif (ITAM) of CD247/CD3Z and the non-canonical phosphorylated tyrosine-based activation motif (TAM) of RHOH (By similarity). The interdomain B located between the second SH2 and the kinase domain contains 3 tyrosines (Tyr-292, Tyr-315, Tyr-319) that are phosphorylated following TCR activation. These sites have been implicated in binding to other signaling molecules including CBL or VAV1. Thus, ZAP70 can also function as a scaffold by recruiting additional factors to the stimulated TCR complex.
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. SYK/ZAP-70 subfamily.
Domain:
  • Composed of 2 N-terminal SH2 domains and a C-terminal kinase domain. The tandem SH2 domains bind to the doubly phosphorylated tyrosine-based activation motif (ITAM) of CD247/CD3Z and the non-canonical phosphorylated tyrosine-based activation motif (TAM) of RHOH (By similarity). The interdomain B located between the second SH2 and the kinase domain contains 3 tyrosines (Tyr-292, Tyr-315, Tyr-319) that are phosphorylated following TCR activation. These sites have been implicated in binding to other signaling molecules including CBL or VAV1. Thus, ZAP70 can also function as a scaffold by recruiting additional factors to the stimulated TCR complex.
  • Contains 1 protein kinase domain.
  • Contains 2 SH2 domains.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. SYK/ZAP-70 subfamily.
genes like me logo Genes that share domains with ZAP70: view

Function for ZAP70 Gene

Molecular function for ZAP70 Gene

GENATLAS Biochemistry:
CD3 zeta associated tyrosine kinase,SYK (non SRC) family,expressed in T and NK cells,involved in signal transduction
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by phosphorylation at Tyr-493 in the activation loop. Inhibited by staurosporine.
UniProtKB/Swiss-Prot Function:
Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Regulates motility, adhesion and cytokine expression of mature T-cells, as well as thymocyte development. Contributes also to the development and activation of primary B-lymphocytes. When antigen presenting cells (APC) activate T-cell receptor (TCR), a serie of phosphorylations lead to the recruitment of ZAP70 to the doubly phosphorylated TCR component CD247/CD3Z through ITAM motif at the plasma membrane. This recruitment serves to localization to the stimulated TCR and to relieve its autoinhibited conformation. Release of ZAP70 active conformation is further stabilized by phosphorylation mediated by LCK. Subsequently, ZAP70 phosphorylates at least 2 essential adapter proteins: LAT and LCP2. In turn, a large number of signaling molecules are recruited and ultimately lead to lymphokine production, T-cell proliferation and differentiation. Furthermore, ZAP70 controls cytoskeleton modifications, adhesion and mobility of T-lymphocytes, thus ensuring correct delivery of effectors to the APC. ZAP70 is also required for TCR-CD247/CD3Z internalization and degradation through interaction with the E3 ubiquitin-protein ligase CBL and adapter proteins SLA and SLA2. Thus, ZAP70 regulates both T-cell activation switch on and switch off by modulating TCR expression at the T-cell surface. During thymocyte development, ZAP70 promotes survival and cell-cycle progression of developing thymocytes before positive selection (when cells are still CD4/CD8 double negative). Additionally, ZAP70-dependent signaling pathway may also contribute to primary B-cells formation and activation through B-cell receptor (BCR).

Enzyme Numbers (IUBMB) for ZAP70 Gene

Gene Ontology (GO) - Molecular Function for ZAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity TAS --
GO:0004715 non-membrane spanning protein tyrosine kinase activity TAS 20135127
GO:0005102 receptor binding IBA --
GO:0005515 protein binding IPI 7509083
genes like me logo Genes that share ontologies with ZAP70: view
genes like me logo Genes that share phenotypes with ZAP70: view

Human Phenotype Ontology for ZAP70 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ZAP70 Gene

MGI Knock Outs for ZAP70:

Animal Model Products

miRNA for ZAP70 Gene

miRTarBase miRNAs that target ZAP70

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for ZAP70 Gene

Localization for ZAP70 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ZAP70 Gene

Cytoplasm. Cell membrane; Peripheral membrane protein. Note=In quiescent T-lymphocytes, it is cytoplasmic. Upon TCR activation, it is recruited at the plasma membrane by interacting with CD247/CD3Z. Colocalizes together with RHOH in the immunological synapse. RHOH is required for its proper localization to the cell membrane and cytoskeleton fractions in the thymocytes (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ZAP70 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ZAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IEA --
GO:0005737 cytoplasm TAS 12359715
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IDA,TAS 20135127
GO:0005911 cell-cell junction IEA --
genes like me logo Genes that share ontologies with ZAP70: view

Pathways & Interactions for ZAP70 Gene

genes like me logo Genes that share pathways with ZAP70: view

SIGNOR curated interactions for ZAP70 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ZAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002250 adaptive immune response TAS 20135127
GO:0002281 macrophage activation involved in immune response IBA --
GO:0002283 neutrophil activation involved in immune response IBA --
GO:0002376 immune system process IEA --
GO:0006468 protein phosphorylation NAS 1423621
genes like me logo Genes that share ontologies with ZAP70: view

Drugs & Compounds for ZAP70 Gene

(25) Drugs for ZAP70 Gene - From: DrugBank, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Staurosporine Experimental Pharma Positive, Allosteric regulator, Target Protein kinase inhibitor,potent and cell permeable 45
ALOISINE Pharma 0
SYK INHIBITOR II Pharma 0

(18) Additional Compounds for ZAP70 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ZAP70: view

Transcripts for ZAP70 Gene

Unigene Clusters for ZAP70 Gene

Zeta-chain (TCR) associated protein kinase 70kDa:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ZAP70 Gene

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: - -
SP6:
SP7:
SP8:
SP9:

ExUns: 17b
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:

Relevant External Links for ZAP70 Gene

GeneLoc Exon Structure for
ZAP70
ECgene alternative splicing isoforms for
ZAP70

Expression for ZAP70 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ZAP70 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ZAP70 Gene

This gene is overexpressed in Whole Blood (x23.7), Spleen (x7.2), and Small Intestine - Terminal Ileum (x4.4).

Protein differential expression in normal tissues from HIPED for ZAP70 Gene

This gene is overexpressed in NK cells (19.0), Peripheral blood mononuclear cells (18.2), CD8 Tcells (8.4), Lymph node (7.9), and Tlymphocyte (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ZAP70 Gene



Protein tissue co-expression partners for ZAP70 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ZAP70 Gene:

ZAP70

SOURCE GeneReport for Unigene cluster for ZAP70 Gene:

Hs.234569

mRNA Expression by UniProt/SwissProt for ZAP70 Gene:

P43403-ZAP70_HUMAN
Tissue specificity: Expressed in T- and natural killer cells. Also present in early thymocytes and pro/pre B-cells.
genes like me logo Genes that share expression patterns with ZAP70: view

Primer Products

Orthologs for ZAP70 Gene

This gene was present in the common ancestor of animals.

Orthologs for ZAP70 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ZAP70 34 35
  • 99.57 (n)
cow
(Bos Taurus)
Mammalia ZAP70 34 35
  • 89.77 (n)
dog
(Canis familiaris)
Mammalia ZAP70 34 35
  • 88.78 (n)
rat
(Rattus norvegicus)
Mammalia Zap70 34
  • 87.89 (n)
mouse
(Mus musculus)
Mammalia Zap70 34 16 35
  • 87.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ZAP70 35
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZAP70 34 35
  • 73.26 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia zap70 34
  • 67.05 (n)
zebrafish
(Danio rerio)
Actinopterygii zap70 34 35
  • 65.65 (n)
Dr.14214 34
fruit fly
(Drosophila melanogaster)
Insecta hop 35
  • 13 (a)
ManyToMany
PR2 35
  • 9 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea kin-24 36
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2657 35
  • 28 (a)
OneToMany
Species where no ortholog for ZAP70 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ZAP70 Gene

ENSEMBL:
Gene Tree for ZAP70 (if available)
TreeFam:
Gene Tree for ZAP70 (if available)

Paralogs for ZAP70 Gene

Paralogs for ZAP70 Gene

(4) SIMAP similar genes for ZAP70 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with ZAP70: view

Variants for ZAP70 Gene

Sequence variations from dbSNP and Humsavar for ZAP70 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs104893674 Immunodeficiency 48 (IMD48) [MIM:269840], Pathogenic 97,737,828(+) TCCAG(A/C)CGCAG nc-transcript-variant, reference, missense
rs113994174 Immunodeficiency 48 (IMD48) [MIM:269840], Pathogenic 97,737,576(+) CGGCC(C/T)GCAAC nc-transcript-variant, reference, missense
rs137853201 Immunodeficiency 48 (IMD48) [MIM:269840], Pathogenic 97,737,577(+) GGCCC(A/G)CAACG nc-transcript-variant, reference, missense
VAR_041848 Neck squamous cell carcinoma sample
VAR_065623 Immunodeficiency 48 (IMD48) [MIM:269840]

Structural Variations from Database of Genomic Variants (DGV) for ZAP70 Gene

Variant ID Type Subtype PubMed ID
esv2759077 CNV gain+loss 17122850
esv33510 CNV gain 17666407
nsv10104 CNV gain 18304495
nsv2837 CNV insertion 18451855

Variation tolerance for ZAP70 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ZAP70 Gene

Human Gene Mutation Database (HGMD)
ZAP70
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ZAP70

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ZAP70 Gene

Disorders for ZAP70 Gene

MalaCards: The human disease database

(22) MalaCards diseases for ZAP70 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
selective t-cell defect
  • zeta-associated-protein 70 deficiency
autoimmune disease, multisystem, infantile-onset, 2
  • admio2
combined immunodeficiency, x-linked, moderate
  • combined t cell and b cell immunodeficiency
cd8 deficiency, familial
  • susceptibility to respiratory infections associated with cd8alpha chain mutation
zap70-related severe combined immunodeficiency
  • zeta-associated protein 70 deficiency
- elite association - COSMIC cancer census association via MalaCards
Search ZAP70 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ZAP70_HUMAN
  • Immunodeficiency 48 (IMD48) [MIM:269840]: A form of severe immunodeficiency characterized by a selective absence of CD8+ T-cells. {ECO:0000269 PubMed:11123350, ECO:0000269 PubMed:11412303, ECO:0000269 PubMed:18509675, ECO:0000269 PubMed:8124727, ECO:0000269 PubMed:8202713}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ZAP70 Gene

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

Relevant External Links for ZAP70

Genetic Association Database (GAD)
ZAP70
Human Genome Epidemiology (HuGE) Navigator
ZAP70
Tumor Gene Database (TGDB):
ZAP70
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ZAP70
genes like me logo Genes that share disorders with ZAP70: view

Publications for ZAP70 Gene

  1. ZAP-70: a 70 kd protein-tyrosine kinase that associates with the TCR zeta chain. (PMID: 1423621) Chan A.C. … Weiss A. (Cell 1992) 2 3 4 22 64
  2. ZAP70: a master regulator of adaptive immunity. (PMID: 20135127) Fischer A. … Hivroz C. (Semin. Immunopathol. 2010) 3 4 22 64
  3. Structural basis for the inhibition of tyrosine kinase activity of ZAP-70. (PMID: 17512407) Deindl S. … Kuriyan J. (Cell 2007) 3 4 22 64
  4. T cell activation-induced CrkII binding to the Zap70 protein tyrosine kinase is mediated by Lck-dependent phosphorylation of Zap70 tyrosine 315. (PMID: 16339550) Gelkop S. … Isakov N. (J. Immunol. 2005) 3 4 22 64
  5. Identification of a novel isoform of ZAP-70, truncated ZAP kinase. (PMID: 14985102) Kuroyama H. … Hirokawa K. (Biochem. Biophys. Res. Commun. 2004) 3 4 22 64

Products for ZAP70 Gene

Sources for ZAP70 Gene

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