ENSG00000115085
Homo sapiens cell ZAP70 kinase t protein domain tyrosine-protein binding regulation activity zap- immune receptor signaling selection membrane sh superfamily syk response phosphorylation tyrosine differentiation thymic catalytic site atp pathway peptidyl-tyrosine autophosphorylation activation
Features Gene ID: ENSG00000115085 Biological name :ZAP70 Synonyms : P43403 / / Possible biological names infered from orthology : Species: Homo sapiens Chr. number: 2 Strand: 1 Band: q11.2 Gene start: 97713560 Gene end: 97739862 Corresponding Affymetrix probe sets: 1555613_a_at (Human Genome U133 Plus 2.0 Array) 214032_at (Human Genome U133 Plus 2.0 Array) Cross references: Ensembl peptide - ENSP000002649727535
See in Manteia .
176947 XM_017004870 NM_001079 NM_207519 XM_017004867 XM_017004868 XM_017004869 NP_997402 NP_001070 P43403 ENSG00000115085 Related genetic diseases (OMIM): 269840 - Immunodeficiency 48, 269840 617006 - Autoimmune disease, multisystem, infantile-onset, 2, 617006
See expression report in BioGPS See gene description in Wikigenes See gene description in GeneCards See co-cited genes in PubMed Ortholog prediction (from Ensembl )Paralog prediction (from Ensembl )Protein motifs (from Interpro ) IPR000719 Protein kinase domain IPR000980 SH2 domain IPR001245 Serine-threonine/tyrosine-protein kinase, catalytic domain IPR008266 Tyrosine-protein kinase, active site IPR011009 Protein kinase-like domain superfamily IPR012234 Tyrosine-protein kinase, non-receptor SYK/ZAP-70 IPR017441 Protein kinase, ATP binding site IPR020635 Tyrosine-protein kinase, catalytic domain IPR023420 Tyrosine-protein kinase SYK/ZAP-70, inter-SH2 domain superfamily IPR035838 SYK/ZAP-70, N-terminal SH2 domain IPR036860 SH2 domain superfamily
Gene Ontology (GO ) immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune response nitrogen compound metabolic process cellular metabolic process primary metabolic process organic substance metabolic process cell communication cellular response to stimulus anatomical structure development cellular developmental process cell activation response to stress cell adhesion leukocyte proliferation localization of cell movement of cell or subcellular component immune reimmune response nitrogen nitrogen compound metabolic process cellular cellular metabolic process primary mprimary metabolic process organic sorganic substance metabolic process cell commcell communication cellular cellular response to stimulus anatomicaanatomical structure development cellular cellular developmental process cell acticell activation response response to stress cell adhecell adhesion leukocyteleukocyte proliferation localizatlocalization of cell movement movement of cell or subcellular component organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic compound binding heterocyclic compound binding small molecule binding catalytic activity, acting on a protein transferase activity protein binding ion binding carbohydrate derivative binding drug binding organic cyclic organic cyclic compound binding heterocyclic coheterocyclic compound binding small molecule small molecule binding catalytic activcatalytic activity, acting on a protein transferase acttransferase activity protein bindingprotein binding ion bindingion binding carbohydrate decarbohydrate derivative binding drug bindingdrug binding cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cell membrane cell junction protein-containing complex cellcell membranemembrane cell junctioncell junction protein-containing complexprotein-containing complex
Pathways (from Reactome )Phenotype (from MGI , Zfin or HPO ) Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal recessive inheritance Metabolism abnormality Genitourinary abnormality Integument abnormality Immunological abnormality Growth abnormality Abnormality of the digestive system Respiratory abnormality Hematological abnormality Age of onset Autosomal receAutosomal recessive inheritance Metabolism abnMetabolism abnormality Genitourinary Genitourinary abnormality Integument abnIntegument abnormality Immunological Immunological abnormality Growth abnormaGrowth abnormality Abnormality ofAbnormality of the digestive system Respiratory abRespiratory abnormality Hematological Hematological abnormality Age of onsetAge of onset HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
Show HP:0000093 Proteinuria
Show HP:0000100 Nephrotic syndrome
Show HP:0000976 Eczematoid dermatitis
Show HP:0001508 Failure to thrive
Show HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
Show HP:0002014 Diarrhea
Show HP:0002090 Pneumonia
Show HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
Show HP:0003139 Panhypogammaglobulinemia
Show HP:0003593 Early onset
Show HP:0005401 Frequent candida infections
Show HP:0012579 Minimal change glomerulonephritis "The presence of minimal changes visible by light microscopy but flattened and fused podocyte foot processes on electron microscopy in a person with nephrotic range proteinuria." [Eurenomics:fschaefer]
Show
Interacting proteins (from Reactome ) ENSG00000010610 CD4 / P01730 / CD4 molecule / complex / reaction ENSG00000043462 LCP2 / Q13094 / lymphocyte cytosolic protein 2 / reaction ENSG00000124181 PLCG1 / P19174 / phospholipase C gamma 1 / reaction ENSG00000167286 CD3D / P04234 / CD3d molecule / complex / reaction ENSG00000160654 CD3G / P09693 / CD3g molecule / complex / reaction ENSG00000010671 BTK / Q06187 / Bruton tyrosine kinase / reaction ENSG00000177885 GRB2 / P62993 / growth factor receptor bound protein 2 / reaction ENSG00000100351 GRAP2 / O75791 / GRB2-related adaptor protein 2 / reaction ENSG00000182866 LCK / P06239 / LCK proto-oncogene, Src family tyrosine kinase / complex / reaction ENSG00000134215 VAV3 / Q9UKW4 / vav guanine nucleotide exchange factor 3 / reaction ENSG00000196735 P01909 / HLA-DQA1 / major histocompatibility complex, class II, DQ alpha 1 / complex / reaction ENSG00000198821 CD247 / P20963 / CD247 molecule / complex / reaction ENSG00000213658 LAT / O43561 / linker for activation of T cells / reaction ENSG00000197943 PLCG2 / P16885 / phospholipase C gamma 2 / reaction ENSG00000198851 CD3E / P07766 / CD3e molecule / complex / reaction ENSG00000160691 SHC1 / P29353 / SHC adaptor protein 1 / reaction ENSG00000204287 P01903 / HLA-DRA / major histocompatibility complex, class II, DR alpha / complex / reaction ENSG00000237541 P01906 / HLA-DQA2 / major histocompatibility complex, class II, DQ alpha 2 / complex / reaction ENSG00000160293 VAV2 / P52735 / vav guanine nucleotide exchange factor 2 / reaction ENSG00000211799 TRAV19 / T cell receptor alpha variable 19 / complex / reaction ENSG00000115904 SOS1 / Q07889 / SOS Ras/Rac guanine nucleotide exchange factor 1 / reaction ENSG00000231389 P20036 / HLA-DPA1 / major histocompatibility complex, class II, DP alpha 1 / complex / reaction ENSG00000134242 PTPN22 / Q9Y2R2 / protein tyrosine phosphatase, non-receptor type 22 / reaction
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