ZAP70 (zeta chain of T cell receptor associated protein kinase 70)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7535
Gene name Gene Name - the full gene name approved by the HGNC.
Zeta chain of T cell receptor associated protein kinase 70
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ZAP70
Synonyms (NCBI Gene) Gene synonyms aliases
ADMIO2, IMD48, SRK, STCD, STD, TZK, ZAP-70
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ADMIO2, IMD48
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q11.2
Summary Summary of gene provided in NCBI Entrez 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, fun
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(18)
SNP ID Visualize variation Clinical significance Consequence
rs104893674 C>A Pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs113994172 C>A Pathogenic Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs113994173 G>A Pathogenic Intron variant, 5 prime UTR variant
rs113994174 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
rs113994175 A>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
miRTarBase ID miRNA Experiments Reference
MIRT005760 hsa-miR-34a-5p Immunoblot, Luciferase reporter assay 21205967
MIRT005760 hsa-miR-34a-5p Immunoblot, Luciferase reporter assay 21205967
MIRT005760 hsa-miR-34a-5p Immunoblot, Luciferase reporter assay 21205967
MIRT005761 hsa-miR-34b-3p Immunoblot, Luciferase reporter assay 21205967
MIRT005761 hsa-miR-34b-3p Immunoblot, Luciferase reporter assay 21205967
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
CREM Unknown 16237091
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(43)
GO ID Ontology Definition Evidence Reference
GO:0001772 Component Immunological synapse IEA
GO:0001784 Function Phosphotyrosine residue binding IMP 12051764
GO:0001784 Function Phosphotyrosine residue binding IPI 12051764
GO:0002250 Process Adaptive immune response TAS 20135127
GO:0004713 Function Protein tyrosine kinase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
176947 12858 ENSG00000115085
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P43403
Protein name Tyrosine-protein kinase ZAP-70 (EC 2.7.10.2) (70 kDa zeta-chain associated protein) (Syk-related tyrosine kinase)
Protein 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. Also contributes to the development and activat
PDB 1FBV , 1M61 , 1U59 , 2CBL , 2OQ1 , 2OZO , 2Y1N , 3ZNI , 4A4B , 4A4C , 4K2R , 4XZ0 , 4XZ1 , 5O76 , 7SIY
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 10 → 87 SH2 domain Domain
PF00017 SH2 163 → 239 SH2 domain Domain
PF07714 PK_Tyr_Ser-Thr 338 → 593 Protein tyrosine and serine/threonine kinase Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in T- and natural killer cells. Also present in early thymocytes and pro/pre B-cells. {ECO:0000269|PubMed:1423621, ECO:0000269|PubMed:16467082, ECO:0000269|PubMed:9378960}.
Sequence
Sequence length 619
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Ras signaling pathway
NF-kappa B signaling pathway
Natural killer cell mediated cytotoxicity
Th1 and Th2 cell differentiation
Th17 cell differentiation
T cell receptor signaling pathway
Yersinia infection
PD-L1 expression and PD-1 checkpoint pathway in cancer
Primary immunodeficiency 		  Translocation of ZAP-70 to Immunological synapse
Generation of second messenger molecules
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (8)
Causal
Disease term Disease name dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)		 26993346
Autoimmune diseases AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 rs869025224 26783323, 27288531
Hemophilia Hemophilia, NOS rs1178811105, rs2147483647, rs137852241, rs137852243, rs1927322453, rs1927322926, rs1166164399
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Colorectal Cancer Colorectal Cancer In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. GWAS, CBGDA
Sarcoidosis Sarcoidosis GWAS
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (84)
Associations from Text Mining
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Inhibit 8823293
Adenocarcinoma Associate 32509861
Alzheimer Disease Associate 26059363
Anemia Hemolytic Autoimmune Associate 20575031
Arthritis Associate 21607290, 31400229
Arthritis Rheumatoid Associate 21607290
Ataxia Telangiectasia Associate 37994408
Autoimmune Diseases Associate 20575031, 27932698, 37853951
Autoimmune Diseases of the Nervous System Associate 37853951
Breast Neoplasms Associate 26126114