Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7535
Gene name	Zeta chain of T cell receptor associated protein kinase 70
Gene symbol	ZAP70
Synonyms (NCBI Gene)	ADMIO2IMD48SRKSTCDSTDTZKZAP-70
Chromosome	2
Chromosome location	2q11.2
Summary	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

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
rs137853201	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs199840952	C>T	Pathogenic	Non coding transcript variant, upstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant
rs200126170	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs730880318	G>A	Pathogenic	Intron variant
rs730880319	AAGTGGTACGCAC>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs869025224	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs897972295	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant, synonymous variant
rs1017182331	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, intron variant, genic downstream transcript variant, coding sequence variant
rs1064793298	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1064793340	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1559328006	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1573262398	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, missense variant
rs1573280624	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant

Show/Hide all (14)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005760	hsa-miR-34a-5p	ImmunoblotLuciferase reporter assay	21205967
MIRT005760	hsa-miR-34a-5p	ImmunoblotLuciferase reporter assay	21205967
MIRT005760	hsa-miR-34a-5p	ImmunoblotLuciferase reporter assay	21205967
MIRT005761	hsa-miR-34b-3p	ImmunoblotLuciferase reporter assay	21205967
MIRT005761	hsa-miR-34b-3p	ImmunoblotLuciferase reporter assay	21205967
MIRT005761	hsa-miR-34b-3p	ImmunoblotLuciferase reporter assay	21205967
MIRT005762	hsa-miR-34c-5p	ImmunoblotLuciferase reporter assay	21205967
MIRT005762	hsa-miR-34c-5p	ImmunoblotLuciferase reporter assay	21205967
MIRT005762	hsa-miR-34c-5p	ImmunoblotLuciferase reporter assay	21205967
MIRT005760	hsa-miR-34a-5p	Proteomics	21566225
MIRT005760	hsa-miR-34a-5p	Proteomics	21566225
MIRT732317	hsa-miR-631	Luciferase reporter assayqRT-PCRWestern blot	26620225
MIRT732317	hsa-miR-631	Luciferase reporter assayqRT-PCRWestern blot	26620225
MIRT736059	hsa-miR-370-3p	MicroarrayqRT-PCR	31432183

Show/Hide all (1)

Transcription factor	Regulation	Reference
CREM	Unknown	16237091

Show/Hide all (70)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001772	Component	Immunological synapse	IEA
GO:0001784	Function	Phosphotyrosine residue binding	IEA
GO:0002250	Process	Adaptive immune response	IEA
GO:0002250	Process	Adaptive immune response	TAS	20135127
GO:0002376	Process	Immune system process	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IBA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	15292186
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	NAS	1423621, 8613493
GO:0004713	Function	Protein tyrosine kinase activity	TAS
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IDA	9489702, 12447358
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS	20135127
GO:0005515	Function	Protein binding	IPI	7509083, 7528772, 7761456, 8648092, 8901551, 9185620, 10318843, 10704231, 10752619, 11855827, 11891219, 12051764, 12359715, 12646565, 15832366, 16273093, 16461343, 19843936, 21957439, 22266821, 23460737, 24658140, 24728074, 26783323, 31980649
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	NAS	1423621
GO:0005737	Component	Cytoplasm	IDA	9489702
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	12359715
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12150984
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	20135127
GO:0005911	Component	Cell-cell junction	IEA
GO:0006468	Process	Protein phosphorylation	IDA	12447358
GO:0006468	Process	Protein phosphorylation	NAS	1423621
GO:0006955	Process	Immune response	IDA	1423621
GO:0007159	Process	Leukocyte cell-cell adhesion	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	22732588
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IMP	23620790
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0030217	Process	T cell differentiation	IEA
GO:0030217	Process	T cell differentiation	NAS	8613493
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	NAS	1423621
GO:0042101	Component	T cell receptor complex	IDA	8176201
GO:0042101	Component	T cell receptor complex	IEA
GO:0042110	Process	T cell activation	TAS	20135127
GO:0042113	Process	B cell activation	TAS	20135127
GO:0043366	Process	Beta selection	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	11368773
GO:0045059	Process	Positive thymic T cell selection	IDA	7630421
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0045059	Process	Positive thymic T cell selection	IEA
GO:0045060	Process	Negative thymic T cell selection	IEA
GO:0045061	Process	Thymic T cell selection	IEA
GO:0045121	Component	Membrane raft	IDA	12150984
GO:0045582	Process	Positive regulation of T cell differentiation	IDA	7630421
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0046632	Process	Alpha-beta T cell differentiation	IEA
GO:0046638	Process	Positive regulation of alpha-beta T cell differentiation	IEA
GO:0046641	Process	Positive regulation of alpha-beta T cell proliferation	IEA
GO:0050850	Process	Positive regulation of calcium-mediated signaling	IEA
GO:0050852	Process	T cell receptor signaling pathway	IDA	11368773, 23514740, 25907557
GO:0050852	Process	T cell receptor signaling pathway	IDA	9489702, 38614099
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050852	Process	T cell receptor signaling pathway	IEA
GO:0050852	Process	T cell receptor signaling pathway	TAS	20135127
GO:0050900	Process	Leukocyte migration	IEA
GO:0070489	Process	T cell aggregation	TAS	20135127
GO:0072678	Process	T cell migration	TAS	20135127

MIM	HGNC	e!Ensembl
176947	12858	ENSG00000115085

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

MPDPAAHLPFFYGSISRAEAEEHLKLAGMADGLFLLRQCLRSLGGYVLSLVHDVRFHHFP
IERQLNGTYAIAGGKAHCGPAELCEFYSRDPDGLPCNLRKPCNRPSGLEPQPGVFDCLRD
AMVRDYVRQTWKLEGEALEQAIISQAPQVEKLIATTAHERMPWYHSSLTREEAERKLYSG
AQTDGKFLLRPRKEQGTYALSLIYGKTVYHYLISQDKAGKYCIPEGTKFDTLWQLVEYLK
LKADGLIYCLKEACPNSSASNASGAAAPTLPAHPSTLTHPQRRIDTLNSDGYTPEPARIT
SPDKPRPMPMDTSVYESPYSDPEELKDKKLFLKRDNLLIADIELGCGNFGSVRQGVYRMR
KKQIDVAIKVLKQGTEKADTEEMMREAQIMHQLDNPYIVRLIGVCQAEALMLVMEMAGGG
PLHKFLVGKREEIPVSNVAELLHQVSMGMKYLEEKNFVHRDLAARNVLLVNRHYAKISDF
GLSKALGADDSYYTARSAGKWPLKWYAPECINFRKFSSRSDVWSYGVTMWEALSYGQKPY
KKMKGPEVMAFIEQGKRMECPPECPPELYALMSDCWIYKWEDRPDFLTVEQRMRACYYSL
ASKVEGPPGSTQKAEAACA

Sequence length

619

Interactions

View interactions

	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

468

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autoimmune disease, multisystem, infantile-onset, 2	Pathogenic; Likely pathogenic	rs869025224, rs113994174	RCV000233631 RCV006272083
Combined immunodeficiency	Pathogenic	rs869025224, rs1573262398	RCV000208547 RCV001027642
Combined immunodeficiency due to ZAP70 deficiency	Pathogenic; Likely pathogenic	rs1263533157, rs201207626, rs2104688189, rs754420169, rs750794851, rs1677953034, rs869025224, rs2482690458, rs730880318, rs104893674, rs730880319, rs2482741381, rs2482766787, rs2482756016, rs113994174 View all (5 more)	RCV006271754 RCV001731179 RCV006271800 RCV006271813 RCV006271795 RCV006271910 RCV001559121 RCV003228204 RCV000014158 RCV000033208 RCV000014164 RCV006271940 RCV006271954 RCV006271957 RCV000032160 RCV006271647 RCV006271671 RCV006271670 RCV006271712 RCV006271726
Severe combined immunodeficiency disease	Pathogenic; Likely pathogenic	rs730880318, rs113994174, rs1573261820	RCV005406742 RCV004566794 RCV003486934
ZAP70-related disorder	Pathogenic	rs730880318	RCV003390681

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs2289919	RCV005923313
Cervical cancer	Benign	rs202121787	RCV005926221
Hepatocellular carcinoma	Uncertain significance	rs149448335	RCV005911141
Lung cancer	Benign	rs2289919	RCV005923315
Malignant lymphoma, large B-cell, diffuse	Likely benign	rs145218891	RCV005907166
Malignant tumor of esophagus	Benign	rs2276644	RCV005916538
Melanoma	Conflicting classifications of pathogenicity	rs56249179	RCV005896229
Ovarian serous cystadenocarcinoma	Benign	rs2276644, rs2289919	RCV005916539 RCV005923314
Uterine carcinosarcoma	Benign	rs2276644	RCV005916540
Uterine corpus endometrial carcinoma	Benign	rs2276644	RCV005916541

Show/Hide Text Mining Associations (84)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Burkitt Lymphoma	Stimulate	15133473
Burkitt Lymphoma	Associate	16467082
Carcinoma Renal Cell	Associate	36854280
Carcinoma Squamous Cell	Associate	33588862
CD8 Deficiency Familial	Associate	10574909, 37313400
Chromosome 12 12p trisomy	Associate	22002134
Coronary Artery Disease	Associate	30015926
Drug Related Side Effects and Adverse Reactions	Associate	25757160
Enteropathy Associated T Cell Lymphoma	Associate	15133473
GATA2 Deficiency	Associate	15133473
Graft vs Host Disease	Associate	17456058
Head and Neck Neoplasms	Associate	35090306
Hepatitis B	Associate	16467082
HIV Infections	Inhibit	8823293
Hodgkin Disease	Associate	15133473
Immune System Diseases	Associate	28415650
Immunologic Deficiency Syndromes	Associate	19548248, 27448562, 28415650, 36078131, 37313400
Inflammation	Associate	39216827
Kidney Failure Chronic	Stimulate	25743836
Laryngeal Neoplasms	Associate	35477402
Leukemia	Associate	12724482, 15972449, 16482508, 16906585, 18024373, 18519230, 18577710, 18687687, 20014315, 20145264, 22031455, 22839722, 25953391, 36078131
Leukemia B Cell	Associate	17051411, 21617698, 24924909
Leukemia Lymphocytic Chronic B Cell	Associate	12393534, 12595313, 12724482, 15133473, 15284443, 15329427, 15514014, 15686454, 15802535, 15972449, 16211545, 16251535, 16284990, 16332969, 16342060 View all (97 more)
Leukemia Lymphocytic Chronic B Cell	Inhibit	24782504
Leukemia Lymphocytic Chronic B Cell	Stimulate	25544766
Leukemia Lymphoid	Associate	25743836
Leukemia Myeloid Acute	Associate	12763134, 25757160
Leukemia Prolymphocytic T Cell	Associate	15133473, 15686454, 16906573, 17456058, 18759763, 19438486, 22151263, 22224978, 24219331, 29196709
Leukemia T Cell	Associate	17456058
Lupus Erythematosus Systemic	Associate	19018007, 22235999, 37994408
Lymphocytosis	Associate	17534928, 22224978
Lymphoma B Cell	Associate	28415650
Lymphoma Follicular	Associate	31273513
Lymphoma Large Cell Anaplastic	Associate	15133473, 20511667
Lymphoma Mantle Cell	Stimulate	15133473
Lymphoma Non Hodgkin	Associate	27748274
Lymphoma T Cell	Associate	15133473, 25513989
Lymphoma T Cell Peripheral	Associate	15133473, 35077445
Mesothelioma	Associate	21079519
Multiple Myeloma	Inhibit	14717778
Multiple Myeloma	Associate	32238854
Mycobacterium Infections Nontuberculous	Associate	37313400
Mycosis Fungoides	Associate	15133473
Nasopharyngeal Carcinoma	Associate	37274867
Neoplasms	Associate	12351398, 16342060, 16906578, 28947822, 31817155, 38017109, 9531350
Nose Diseases	Inhibit	22310933
Pancreatic Neoplasms	Associate	21455317
Papillomavirus Infections	Associate	35090306
Paraparesis Tropical Spastic	Stimulate	26358743
Paraparesis Tropical Spastic	Associate	40004169
Personality Disorders	Associate	18577710, 19377082
Pituitary Neoplasms	Associate	36161330
Pneumonia Pneumocystis	Associate	37313400
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	15133473, 16160012, 16467082, 22031455
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	35805156
Primary Immunodeficiency Diseases	Associate	27448562, 32265901
Pulmonary Arterial Hypertension	Associate	33539912
Respiratory Tract Infections	Associate	37101133
Sarcoma Ewing	Inhibit	25008066
Severe Acute Respiratory Syndrome	Associate	38129328
Severe Combined Immunodeficiency	Associate	11463783, 32265901, 38129328, 7561679, 8920891
Severe combined immunodeficiency due to adenosine deaminase deficiency	Associate	18218852
Sick Sinus Syndrome	Associate	18024373
Splenomegaly	Associate	31122288
Squamous Cell Carcinoma of Head and Neck	Associate	28814981, 33466212, 36636556, 37988195
Subcutaneous panniculitis like T cell lymphoma	Associate	15133473
T cell immunodeficiency primary	Associate	22664044
Thrombocythemia Essential	Associate	18849073
Thyroid Cancer Papillary	Associate	29967488
Tuberculosis Meningeal	Associate	23553682
Urinary Bladder Neoplasms	Associate	33204728
Uterine Cervical Neoplasms	Associate	35090306, 36973995
X Linked Combined Immunodeficiency Diseases	Associate	24406074, 37313400, 38129328
ZAP70 deficiency	Inhibit	37101133

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