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mutLBSgeneDB |
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| Gene summary for ZAP70 |
 Gene summary |
| Basic gene Info. | Gene symbol | ZAP70 |
| Gene name | zeta-chain (TCR) associated protein kinase 70kDa | |
| Synonyms | SRK|STCD|STD|TZK|ZAP-70 | |
| Cytomap | UCSC genome browser: 2q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001079.3, NM_207519.1, | |
| Description | 70 kDa zeta-associated protein70 kDa zeta-chain associated proteinsyk-related tyrosine kinasetyrosine-protein kinase ZAP-70zeta-chain associated protein kinase, 70kD | |
| Modification date | 20141221 | |
| dbXrefs | MIM : 176947 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000115085 | ||
| HPRD : 01495 | ||
| Vega : OTTHUMG00000153060 | ||
| Protein | UniProt: P43403 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ZAP70 | |
| BioGPS: 7535 | ||
| Pathway | NCI Pathway Interaction Database: ZAP70 | |
| KEGG: ZAP70 | ||
| REACTOME: ZAP70 | ||
| Pathway Commons: ZAP70 | ||
| Context | iHOP: ZAP70 | |
| ligand binding site mutation search in PubMed: ZAP70 | ||
| UCL Cancer Institute: ZAP70 | ||
| Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
| References showing study about ligand binding site mutation for ZAP70. | 1. "Lappalainen I, Thusberg J, Shen B, Vihinen M. Genome wide analysis of pathogenic SH2 domain mutations. Proteins. 2008 Aug;72(2):779-92. doi: 10.1002/prot.21970." 18260110 | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006468 | protein phosphorylation | 12447358 | GO:0006955 | immune response | 1423621 | GO:0018108 | peptidyl-tyrosine phosphorylation | 22732588 | GO:0045059 | positive thymic T cell selection | 7630421 | GO:0045582 | positive regulation of T cell differentiation | 7630421 |
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| Ligand binding site mutations for ZAP70 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | M161 | R160Q | COAD | 1 | G347 | G347S | GBM | 1 | R465 | A463V | LUAD | 1 | C117,A121 | R119Q | LUSC | 1 | P421 | P421Q | LUSC | 1 | K369 | L371M | LUSC | 1 | R190,R192 | P191L | LUSC | 1 | G226 | T227I | SKCM | 1 | M414 | M414I | SKCM | 1 | Y209 | Y209H | STAD | 1 | R37 | R37H | STAD | 1 | M161 | E159K | STAD | 1 | R465 | R465H | UCEC | 1 | M414 | V413I | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for ZAP70 |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | M161 | R160Q | -1.5694488 | R37 | R37H | -1.2337124 | K369 | L371M | -1.1647872 | M414 | V413I | -1.1371458 | R465 | R465H | -1.0907289 | C117 | R119Q | -1.0317888 | A121 | R119Q | -1.0317888 | Y209 | Y209H | -1.0118899 | G226 | T227I | -0.97557272 | P421 | P421Q | -0.6655316 | R190 | P191L | -0.64710427 | R192 | P191L | -0.64710427 | M161 | E159K | -0.60716525 | G347 | G347S | -0.59959639 | R465 | A463V | -0.39317114 | M414 | M414I | -0.027824769 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for ZAP70 from PDB |
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| Differential gene expression and gene-gene network for ZAP70 |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for ZAP70 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0085110 | Severe Combined Immunodeficiency | 12 | Biomarker |
| umls:C2931299 | ZAP70 deficiency | 6 | Biomarker, GeneticVariation |
| umls:C0021051 | Immunologic Deficiency Syndromes | 1 | Biomarker |
| umls:C2931320 | T cell immunodeficiency primary | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 28296 | R465H | Pathogenic | Germline | GeneReviews:NBK20221 MedGen:C1849236 OMIM:269840 Orphanet:ORPHA911 |
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| Pharmacological information for ZAP70 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Experimental | DB02010 | Staurosporine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ZAP70 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 4N5 | 1-(3-{5-[(3-CHLOROBENZYL)SULFONYL]-1H-TETRAZOL-1- YL}PHENYL)ETHANONE | 4xz0 | A | C117 A121 M161 | ANP | AMP-PNP | 4k2r | A | G347 K369 M414 P421 R465 | ANP | AMP-PNP | 2ozo | A | G347 K369 P421 R465 | STU | STAUROSPORINE | 1u59 | A | M414 P421 R465 | III | Peptide ligand (ASN,GLN,LEU,TYR,ASN,GLU,LEU,ASN,LEU,GLY,ARG,ARG,GLU,GLU,TYR,ASP,VAL,LEU,ASP) | 2oq1 | A | R192 | MG | MAGNESIUM(2+) | 4k2r | A | R465 |
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| Conservation information for LBS of ZAP70 |
| Multiple alignments for P43403 in multiple species |
| LBS | AA sequence | # species | Species |
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