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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
  • SRK 2 3 4
  • 70 KDa Zeta-Chain Associated Protein 3 4
  • Tyrosine-Protein Kinase ZAP-70 2 3
  • Syk-Related Tyrosine Kinase 3 4
  • Zeta Chain Of T Cell Receptor Associated Protein Kinase 70kDa 3
  • Zeta-Chain (TCR) Associated Protein Kinase 70kDa 3
  • Zeta-Chain Associated Protein Kinase, 70kD 3
  • 70 KDa Zeta-Associated Protein 3
  • EC 2.7.10.2 4
  • 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 Immunodeficiency 48 and Autoimmune Disease, Multisystem, Infantile-Onset, 2. Among its related pathways are T cell receptor signaling pathway and NF-kappa B signaling pathway. Gene Ontology (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

Additional gene information for ZAP70 Gene

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

Genomics for ZAP70 Gene

GeneHancer (GH) Regulatory Elements for ZAP70 Gene

Promoters and enhancers for ZAP70 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J097712 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 688 +2.7 2665 7.6 PKNOX1 ATF1 TCF12 ZNF766 CAVIN1 ZNF592 KAT8 MEF2D MIER3 SMARCA4 ZAP70 ANKRD36B LMAN2L UNC50 ACTR1B ANKRD36 CNNM3 SEMA4C TMEM131 FAHD2B
GH02J097660 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 23 -50.8 -50766 5 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZBTB7B IRF4 C2orf92 ACTR1B GC02M097664 ANKRD36B TMEM131 ZAP70 UNC50 CNNM3 LOC100506123 RNU4-8P
GH02J097992 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 11.8 +281.4 281390 4.3 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 TMEM131 ANKRD36B UNC50 ANKRD36 ZAP70 ACTR1B C2orf92 RNU7-96P
GH02J097588 Promoter/Enhancer 1.5 Ensembl ENCODE 12 -123.5 -123476 3 HDGF PKNOX1 ATF1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 ANKRD36B COX5B RNU4-8P ACTR1B C2orf92 ZAP70 PIR49158
GH02J097867 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.9 +156.6 156574 5.2 PKNOX1 ARID4B SIN3A IRF4 YY1 ZNF280A ATF7 FOS RUNX3 RXRA TMEM131 RNU7-96P ZAP70 ANKRD36B C2orf92 GC02M097914 GC02P097828
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ZAP70 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ZAP70 gene promoter:

Genomic Locations for ZAP70 Gene

Genomic Locations for ZAP70 Gene
chr2:97,713,560-97,744,327
(GRCh38/hg38)
Size:
30,768 bases
Orientation:
Plus strand
chr2:98,330,023-98,356,325
(GRCh37/hg19)

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 CD247/CD3Z; this interaction docks ZAP70 at the stimulated TCR (PubMed:1423621, PubMed:7659156, PubMed:26783323). Interacts with NFAM1 (PubMed:15143214). Interacts with adapter protein SLA; this interaction negatively regulates T-cell receptor signaling (PubMed:10449770). Interacts with FCRL3 (PubMed:12051764, PubMed:19843936). Interacts with VAV1 (PubMed:9151714). Interacts with CBL; this interaction promotes ubiquitination, internalization and subsequent degradation of CD247/CD3Z (PubMed:10449770, PubMed:10078535). Identified in a complex with CBL and UBE2L3 (PubMed:10966114). Interacts with SHB (PubMed:12084069). Interacts with adapter protein SLA2; this interaction negatively regulates T-cell receptor signaling. Interacts with CBLB. Interacts (via SH2 domains) with RHOH; this interaction regulates ZAP70 subcellular localization. Interacts with DEF6 (By similarity). Interacts (ubiquitinated form) with OTUD7B and UBASH3B (PubMed:26903241).

    Three dimensional structures from OCA and Proteopedia for ZAP70 Gene

    Alternative splice isoforms for ZAP70 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ZAP70 Gene

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.
  • Ubiquitinated in response to T cell activation. Deubiquitinated by OTUD7B.
  • Ubiquitination at posLast=613613, isoforms=2, 3603, posLast=556556, posLast=484484, isoforms=2, 3455, posLast=377377, posLast=362362, posLast=361361, isoforms=3217, isoforms=3193, posLast=176176, isoforms=151, isoforms=132, posLast=100100, isoforms=75, and posLast=2525
  • Modification sites at PhosphoSitePlus

Other Protein References for ZAP70 Gene

Antibody Products

No data available for DME Specific Peptides for ZAP70 Gene

Domains & Families for ZAP70 Gene

Gene Families for ZAP70 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

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.
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

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).
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.
GENATLAS Biochemistry:
CD3 zeta associated tyrosine kinase,SYK (non SRC) family,expressed in T and NK cells,involved in signal transduction

Enzyme Numbers (IUBMB) for ZAP70 Gene

Phenotypes From GWAS Catalog for ZAP70 Gene

Gene Ontology (GO) - Molecular Function for ZAP70 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001784 phosphotyrosine residue binding IPI 12051764
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 signaling receptor binding IBA --
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

Clone Products

  • Addgene plasmids for ZAP70

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ZAP70 Gene

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:0002376 immune system process IEA --
GO:0006468 protein phosphorylation NAS 1423621
GO:0006955 immune response IDA 1423621
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA --
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
fostamatinib Approved, Investigational Pharma Target, inhibitor Kinase Inhibitors 0
Staurosporine Experimental Pharma Neutral, Allosteric regulator, Positive, Target Protein kinase inhibitor,potent and cell permeable 51
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker 0
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
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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:

Clone Products

  • Addgene plasmids for ZAP70

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 CGAP 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, 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.

Evidence on tissue expression from TISSUES for ZAP70 Gene

  • Blood(4.6)
  • Nervous system(4.1)
  • Lymph node(2.7)
  • Bone marrow(2.6)
  • Spleen(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ZAP70 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • lymphatic
  • respiratory
Regions:
Head and neck:
  • head
  • mouth
Thorax:
  • lung
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Pelvis:
  • vagina
General:
  • blood
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with ZAP70: view

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 33
  • 99.57 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ZAP70 34 33
  • 89.77 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZAP70 34 33
  • 88.78 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Zap70 33
  • 87.89 (n)
mouse
(Mus musculus)
Mammalia Zap70 16 34 33
  • 87.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 80 (a)
OneToMany
-- 34
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia ZAP70 34
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves ZAP70 34 33
  • 73.26 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia zap70 33
  • 67.05 (n)
zebrafish
(Danio rerio)
Actinopterygii zap70 34 33
  • 65.65 (n)
OneToOne
Dr.14214 33
fruit fly
(Drosophila melanogaster)
Insecta hop 34
  • 13 (a)
ManyToMany
PR2 34
  • 9 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea kin-24 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2657 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ZAP70: view image

Paralogs for ZAP70 Gene

Paralogs for ZAP70 Gene

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

  • ZAP70_HUMAN
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 Variation AA Info Type
rs104893674 pathogenic, Severe combined immunodeficiency, atypical, Immunodeficiency 48 (IMD48) [MIM:269840] 97,737,828(+) C/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs113994172 pathogenic, Cd8 deficiency, familial 97,724,275(+) C/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs113994173 pathogenic, Severe combined immunodeficiency, atypical 97,733,464(+) G/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs113994174 pathogenic, Severe combined immunodeficiency, atypical, Immunodeficiency 48 (IMD48) [MIM:269840] 97,737,576(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs113994175 pathogenic, Cd8 deficiency, familial 97,738,085(+) A/T coding_sequence_variant, missense_variant, non_coding_transcript_variant

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)

Additional Variant Information for ZAP70 Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 48
  • imd48
autoimmune disease, multisystem, infantile-onset, 2
  • admio2
severe combined immunodeficiency, atypical
  • scid, atypical
cd8 deficiency, familial
  • susceptibility to respiratory infections associated with cd8alpha chain mutation
combined immunodeficiency, x-linked
  • cidx
- 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.
  • Autoimmune disease, multisystem, infantile-onset, 2 (ADMIO2) [MIM:617006]: An autosomal recessive, autoimmune disorder characterized by systemic manifestations including blistering skin disease, uncontrollable bullous pemphigoid, inflammatory colitis, autoimmune hypothyroidism, proteinuria and nephrotic syndrome. {ECO:0000269 PubMed:26783323}. 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

Additional Disease Information for ZAP70

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Tumor Gene Database
(TGDB)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Publications for ZAP70 Gene

  1. ZAP-70: a 70 kd protein-tyrosine kinase that associates with the TCR zeta chain. (PMID: 1423621) Chan AC … Weiss A (Cell 1992) 2 3 4 22 58
  2. ZAP70: a master regulator of adaptive immunity. (PMID: 20135127) Fischer A … Hivroz C (Seminars in immunopathology 2010) 3 4 22 58
  3. Structural basis for the inhibition of tyrosine kinase activity of ZAP-70. (PMID: 17512407) Deindl S … Kuriyan J (Cell 2007) 3 4 22 58
  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 (Journal of immunology (Baltimore, Md. : 1950) 2005) 3 4 22 58
  5. Identification of a novel isoform of ZAP-70, truncated ZAP kinase. (PMID: 14985102) Kuroyama H … Hirokawa K (Biochemical and biophysical research communications 2004) 3 4 22 58

Products for ZAP70 Gene

  • Addgene plasmids for ZAP70

Sources for ZAP70 Gene

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