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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	10188
Gene name	Tyrosine kinase non receptor 2
Gene symbol	TNK2
Synonyms (NCBI Gene)	ACKACK-1ACK1p21cdc42Hs
Chromosome	3
Chromosome location	3q29
Summary	This gene encodes a tyrosine kinase that binds Cdc42Hs in its GTP-bound form and inhibits both the intrinsic and GTPase-activating protein (GAP)-stimulated GTPase activity of Cdc42Hs. This binding is mediated by a unique sequence of 47 amino acids C-termi

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112384084	C>T	Benign, likely-pathogenic	Missense variant, coding sequence variant

117

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miRTarBase ID	miRNA	Experiments	Reference
MIRT041931	hsa-miR-484	CLASH	23622248
MIRT508920	hsa-miR-4695-5p	PAR-CLIP	23446348
MIRT508919	hsa-miR-4779	PAR-CLIP	23446348
MIRT508918	hsa-miR-181d-3p	PAR-CLIP	23446348
MIRT508916	hsa-miR-1224-3p	PAR-CLIP	23446348
MIRT508915	hsa-miR-4433a-5p	PAR-CLIP	23446348
MIRT508913	hsa-miR-4266	PAR-CLIP	23446348
MIRT508914	hsa-miR-1260a	PAR-CLIP	23446348
MIRT508912	hsa-miR-1260b	PAR-CLIP	23446348
MIRT508911	hsa-miR-5571-3p	PAR-CLIP	23446348
MIRT508920	hsa-miR-4695-5p	PAR-CLIP	23446348
MIRT508919	hsa-miR-4779	PAR-CLIP	23446348
MIRT508918	hsa-miR-181d-3p	PAR-CLIP	23446348
MIRT508917	hsa-miR-1910-5p	PAR-CLIP	23446348
MIRT508916	hsa-miR-1224-3p	PAR-CLIP	23446348
MIRT508915	hsa-miR-4433a-5p	PAR-CLIP	23446348
MIRT508913	hsa-miR-4266	PAR-CLIP	23446348
MIRT508914	hsa-miR-1260a	PAR-CLIP	23446348
MIRT508912	hsa-miR-1260b	PAR-CLIP	23446348
MIRT508911	hsa-miR-5571-3p	PAR-CLIP	23446348
MIRT508916	hsa-miR-1224-3p	PAR-CLIP	26701625
MIRT508916	hsa-miR-1224-3p	PAR-CLIP	26701625
MIRT508916	hsa-miR-1224-3p	PAR-CLIP	26701625
MIRT508914	hsa-miR-1260a	PAR-CLIP	26701625
MIRT508914	hsa-miR-1260a	PAR-CLIP	26701625
MIRT508914	hsa-miR-1260a	PAR-CLIP	26701625
MIRT508912	hsa-miR-1260b	PAR-CLIP	26701625
MIRT508912	hsa-miR-1260b	PAR-CLIP	26701625
MIRT508912	hsa-miR-1260b	PAR-CLIP	26701625
MIRT508918	hsa-miR-181d-3p	PAR-CLIP	26701625
MIRT508918	hsa-miR-181d-3p	PAR-CLIP	26701625
MIRT508918	hsa-miR-181d-3p	PAR-CLIP	26701625
MIRT508913	hsa-miR-4266	PAR-CLIP	26701625
MIRT508913	hsa-miR-4266	PAR-CLIP	26701625
MIRT508913	hsa-miR-4266	PAR-CLIP	26701625
MIRT508915	hsa-miR-4433a-5p	PAR-CLIP	26701625
MIRT508915	hsa-miR-4433a-5p	PAR-CLIP	26701625
MIRT508915	hsa-miR-4433a-5p	PAR-CLIP	26701625
MIRT508920	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT508920	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT508920	hsa-miR-4695-5p	PAR-CLIP	26701625
MIRT508919	hsa-miR-4779	PAR-CLIP	26701625
MIRT508919	hsa-miR-4779	PAR-CLIP	26701625
MIRT508919	hsa-miR-4779	PAR-CLIP	26701625
MIRT508911	hsa-miR-5571-3p	PAR-CLIP	26701625
MIRT508911	hsa-miR-5571-3p	PAR-CLIP	26701625
MIRT508911	hsa-miR-5571-3p	PAR-CLIP	26701625
MIRT508920	hsa-miR-4695-5p	PAR-CLIP	23446348
MIRT508919	hsa-miR-4779	PAR-CLIP	23446348
MIRT508918	hsa-miR-181d-3p	PAR-CLIP	23446348
MIRT508916	hsa-miR-1224-3p	PAR-CLIP	23446348
MIRT508915	hsa-miR-4433a-5p	PAR-CLIP	23446348
MIRT508913	hsa-miR-4266	PAR-CLIP	23446348
MIRT508914	hsa-miR-1260a	PAR-CLIP	23446348
MIRT508912	hsa-miR-1260b	PAR-CLIP	23446348
MIRT508911	hsa-miR-5571-3p	PAR-CLIP	23446348
MIRT508920	hsa-miR-4695-5p	PAR-CLIP	23446348
MIRT508919	hsa-miR-4779	PAR-CLIP	23446348
MIRT508918	hsa-miR-181d-3p	PAR-CLIP	23446348
MIRT508917	hsa-miR-1910-5p	PAR-CLIP	23446348
MIRT508916	hsa-miR-1224-3p	PAR-CLIP	23446348
MIRT508915	hsa-miR-4433a-5p	PAR-CLIP	23446348
MIRT508913	hsa-miR-4266	PAR-CLIP	23446348
MIRT508914	hsa-miR-1260a	PAR-CLIP	23446348
MIRT508912	hsa-miR-1260b	PAR-CLIP	23446348
MIRT508911	hsa-miR-5571-3p	PAR-CLIP	23446348
MIRT1443699	hsa-miR-1203	CLIP-seq
MIRT1443700	hsa-miR-1260	CLIP-seq
MIRT1443701	hsa-miR-1280	CLIP-seq
MIRT1443702	hsa-miR-1297	CLIP-seq
MIRT1443703	hsa-miR-1299	CLIP-seq
MIRT1443704	hsa-miR-15a	CLIP-seq
MIRT1443705	hsa-miR-15b	CLIP-seq
MIRT1443706	hsa-miR-16	CLIP-seq
MIRT1443707	hsa-miR-1827	CLIP-seq
MIRT1443708	hsa-miR-1913	CLIP-seq
MIRT1443709	hsa-miR-195	CLIP-seq
MIRT1443710	hsa-miR-224	CLIP-seq
MIRT1443711	hsa-miR-23a	CLIP-seq
MIRT1443712	hsa-miR-23b	CLIP-seq
MIRT1443713	hsa-miR-23c	CLIP-seq
MIRT1443714	hsa-miR-26a	CLIP-seq
MIRT1443715	hsa-miR-26b	CLIP-seq
MIRT1443716	hsa-miR-3185	CLIP-seq
MIRT1443717	hsa-miR-324-3p	CLIP-seq
MIRT1443718	hsa-miR-326	CLIP-seq
MIRT1443719	hsa-miR-330-5p	CLIP-seq
MIRT1443720	hsa-miR-3918	CLIP-seq
MIRT1443721	hsa-miR-424	CLIP-seq
MIRT1443722	hsa-miR-4438	CLIP-seq
MIRT1443723	hsa-miR-4465	CLIP-seq
MIRT1443724	hsa-miR-4640-5p	CLIP-seq
MIRT1443725	hsa-miR-4685-5p	CLIP-seq
MIRT1443726	hsa-miR-4717-5p	CLIP-seq
MIRT1443727	hsa-miR-4724-5p	CLIP-seq
MIRT1443728	hsa-miR-4726-5p	CLIP-seq
MIRT1443729	hsa-miR-4727-5p	CLIP-seq
MIRT1443730	hsa-miR-4736	CLIP-seq
MIRT1443731	hsa-miR-4753-5p	CLIP-seq
MIRT1443732	hsa-miR-497	CLIP-seq
MIRT1443733	hsa-miR-7	CLIP-seq
MIRT1443734	hsa-miR-875-3p	CLIP-seq
MIRT1443735	hsa-miR-891b	CLIP-seq
MIRT1443736	hsa-miR-940	CLIP-seq
MIRT2132775	hsa-miR-2964a-5p	CLIP-seq
MIRT2132776	hsa-miR-3155	CLIP-seq
MIRT2132777	hsa-miR-3155b	CLIP-seq
MIRT1443716	hsa-miR-3185	CLIP-seq
MIRT2132778	hsa-miR-4269	CLIP-seq
MIRT2132779	hsa-miR-4645-5p	CLIP-seq
MIRT2132780	hsa-miR-4673	CLIP-seq
MIRT1443725	hsa-miR-4685-5p	CLIP-seq
MIRT2132781	hsa-miR-4691-5p	CLIP-seq
MIRT1443733	hsa-miR-7	CLIP-seq
MIRT2132782	hsa-miR-4722-5p	CLIP-seq
MIRT1443716	hsa-miR-3185	CLIP-seq
MIRT1443733	hsa-miR-7	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	IDA	16257963
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	IEA
GO:0004713	Function	Protein tyrosine kinase activity	IBA
GO:0004713	Function	Protein tyrosine kinase activity	IDA	18993068
GO:0004713	Function	Protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IEA
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	TAS	8497321
GO:0005095	Function	GTPase inhibitor activity	TAS	8497321
GO:0005154	Function	Epidermal growth factor receptor binding	IDA	20086093
GO:0005515	Function	Protein binding	IPI	10360579, 10587647, 11157984, 17038317, 19798056, 20333297, 20936779, 22939624, 23686771, 25416956, 25910212, 26496610, 31980649, 32296183, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	20333297
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	20979614
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	20333297, 20979614
GO:0005886	Component	Plasma membrane	IEA
GO:0005905	Component	Clathrin-coated pit	IDA	21169560
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	20432460
GO:0007264	Process	Small GTPase-mediated signal transduction	TAS	8497321
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016310	Process	Phosphorylation	IDA	20333297, 20979614
GO:0016740	Function	Transferase activity	IEA
GO:0030136	Component	Clathrin-coated vesicle	IDA	18262180
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23686771
GO:0042802	Function	Identical protein binding	IPI	16472662, 25416956
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050699	Function	WW domain binding	ISS
GO:0050731	Process	Positive regulation of peptidyl-tyrosine phosphorylation	IDA	10587647
GO:0070161	Component	Anchoring junction	IEA
GO:0070436	Component	Grb2-EGFR complex	IDA	20086093
GO:0097268	Component	Cytoophidium	IDA	25223282
GO:0106310	Function	Protein serine kinase activity	IEA
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	IDA	18262180

MIM	HGNC	e!Ensembl
606994	19297	ENSG00000061938

Q07912

Protein name

Activated CDC42 kinase 1 (ACK-1) (EC 2.7.10.2) (EC 2.7.11.1) (Tyrosine kinase non-receptor protein 2)

Protein function

Non-receptor tyrosine-protein and serine/threonine-protein kinase that is implicated in cell spreading and migration, cell survival, cell growth and proliferation. Transduces extracellular signals to cytosolic and nuclear effectors. Phosphorylat

PDB

1CF4 , 1U46 , 1U4D , 1U54 , 3EQP , 3EQR , 4EWH , 4HZR , 4HZS , 4ID7 , 5ZXB , 6VQM , 7KP6 , 8FE9 , 8FZ3 , 8HMT , 8Q5P , 8THA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07714	PK_Tyr_Ser-Thr	126 → 385	Protein tyrosine and serine/threonine kinase	Domain
PF14604	SH3_9	395 → 444	Variant SH3 domain	Domain
PF09027	GTPase_binding	449 → 514	GTPase binding	Domain
PF11555	Inhibitor_Mig-6	774 → 840	EGFR receptor inhibitor Mig-6	Family

Tissue specificity

TISSUE SPECIFICITY: The Tyr-284 phosphorylated form shows a significant increase in expression in breast cancers during the progressive stages i.e. normal to hyperplasia (ADH), ductal carcinoma in situ (DCIS), invasive ductal carcinoma (IDC) and lymph nod

Sequence

MQPEEGTGWLLELLSEVQLQQYFLRLRDDLNVTRLSHFEYVKNEDLEKIGMGRPGQRRLW
EAVKRRKALCKRKSWMSKVFSGKRLEAEFPPHHSQSTFRKTSPAPGGPAGEGPLQSLTCL
IGEKDLRLLEKLGDGSFGVVRRGEWDAPSGKTVSVAVKCLKPDVLSQPEAMDDFIREVNA
MHSLDHRNLIRLYGVVLTPPMKMVTELAPLGSLLDRLRKHQGHFLLGTLSRYAVQVAEGM
GYLESKRFIHRDLAARNLLLATRDLVKIGDFGLMRALPQNDDHYVMQEHRKVPFAWCAPE
SLKTRTFSHASDTWMFGVTLWEMFTYGQEPWIGLNGSQILHKIDKEGERLPRPEDCPQDI
YNVMVQCWAHKPEDRPTFVALRDFLLEAQPTDMRALQDFEEPDKLHIQMNDVITVIEGRA
ENYWWRGQNTRTLCVGPFPRNVVTSVAGLSAQDISQPLQNSFIHTGHGDSDPRHCWGFPD
RIDELYLGNPMDPPDLLSVELSTSRPPQHLGGVKKPTYDPVSEDQDPLSSDFKRLGLRKP
GLPRGLWLAKPSARVPGTKASRGSGAEVTLIDFGEEPVVPALRPCAPSLAQLAMDACSLL
DETPPQSPTRALPRPLHPTPVVDWDARPLPPPPAYDDVAQDEDDFEICSINSTLVGAGVP
AGPSQGQTNYAFVPEQARPPPPLEDNLFLPPQGGGKPPSSAQTAEIFQALQQECMRQLQA
PAGSPAPSPSPGGDDKPQVPPRVPIPPRPTRPHVQLSPAPPGEEETSQWPGPASPPRVPP
REPLSPQGSRTPSPLVPPGSSPLPPRLSSSPGKTMPTTQSFASDPKYATPQVIQAPGPRA
GPCILPIVRDGKKVSSTHYYLLPERPSYLERYQRFLREAQSPEEPTPLPVPLLLPPPSTP
APAAPTATVRPMPQAALDPKANFSTNNSNPGARPPPPRATARLPQRGCPGDGPEAGRPAD
KIQMAMVHGVTTEECQAALQCHGWSVQRAAQYLKVEQLFGLGLRPRGECHKVLEMFDWNL
EQAGCHLLGSWGPAHHKR

Sequence length

1038

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Epileptic encephalopathy	Pathogenic	rs1418694748	RCV001813922

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of neuronal migration	Uncertain significance; Benign	rs375205272, rs767408627	RCV000201369 RCV000201409
Acute myeloid leukemia	Benign; Likely benign; Uncertain significance	rs199636920, rs375985092	RCV005921050 RCV005900678
Autosomal recessive infantile epilepsy	Conflicting classifications of pathogenicity	rs201407161	RCV000074437
Cervical cancer	Benign; Likely benign	rs199636920	RCV005921051
Clear cell carcinoma of kidney	Benign; Likely benign	rs199636920	RCV005921052
Colon adenocarcinoma	Uncertain significance; Benign; Likely benign	rs370947158, rs199636920	RCV005925467 RCV005921049
Developmental and epileptic encephalopathy	Uncertain significance	rs1156671788	RCV002472203
Familial cancer of breast	Uncertain significance; Benign; Likely benign	rs370947158, rs199636920	RCV005925466 RCV005921048
Infantile epilepsy	Conflicting classifications of pathogenicity	rs201407161	RCV001258313
Lung cancer	Benign; Likely benign	rs199636920, rs200272067	RCV005921057 RCV005920976
Lymphoma	Uncertain significance	rs201615423	RCV005928796
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs199636920, rs200619114	RCV005921053 RCV005921096
Malignant tumor of esophagus	Benign	rs200272067	RCV005920975
Melanoma	Uncertain significance	rs201615423	RCV005926342
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs199636920, rs145536913, rs772461175, rs201113520	RCV005921055 RCV005921206 RCV005927167 RCV005939277
Parkinson disease	Uncertain significance; Conflicting classifications of pathogenicity	rs571171423, rs112384084, rs370013968, rs201407161	RCV000210443 RCV000210436 RCV000210445 RCV000210440
Sarcoma	Benign; Likely benign	rs199636920	RCV005921054
See cases	Uncertain significance	rs886520739	RCV001839159
TNK2-associated Epilepsy syndrome	Uncertain significance	rs752703999	RCV002275323
TNK2-related disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs143787673, rs113106902, rs748303339, rs202068965, rs144161756, rs56190948, rs202015088, rs144814844, rs199680214, rs954432163, rs542737628, rs372040065, rs778397434, rs558958502, rs373899133 View all (5 more)	RCV003911088 RCV003978863 RCV003978689 RCV003933674 RCV003933454 RCV003941297 RCV003943485 RCV003907206 RCV003979358 RCV003897290 RCV003914134 RCV003941397 RCV003939641 RCV003951772 RCV003959244 RCV003922268 RCV003934334 RCV003962027 RCV003971479 RCV003925025
Uterine carcinosarcoma	Benign; Likely benign	rs199636920	RCV005921056

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Attention Deficit Disorder with Hyperactivity	Associate	26621748
Breast Neoplasms	Associate	18435854, 23208506, 26635363, 37330596
Carcinogenesis	Associate	25257795
Carcinoma Non Small Cell Lung	Associate	23154546, 26635363, 32530390, 33495411
Carcinoma Pancreatic Ductal	Associate	33213062
Carcinoma Renal Cell	Associate	20359967
Colitis	Associate	27926694
Colorectal Neoplasms	Associate	27926694, 35057760
Endometrial Neoplasms	Associate	25427824
Epilepsy	Associate	23686771
Esophageal Neoplasms	Associate	33484472
Gastrointestinal Stromal Tumors	Associate	36921738
Glioblastoma	Associate	25257795
Glioma	Associate	25257795, 35862252
Inflammation	Stimulate	27926694
Inflammation	Associate	35057760
Inflammatory Bowel Diseases	Associate	27926694
Kidney Neoplasms	Associate	20359967
Leukemia	Associate	27576506
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	27576506
Leukemia Myeloid Acute	Associate	26635363, 27576506, 35941836
Lung Neoplasms	Stimulate	33495411
Lupus Erythematosus Systemic	Associate	26005050, 36854171
Lymphoma	Associate	37847650
Melanoma	Associate	10587647
Multiple Myeloma	Associate	22147262
Neoplasm Metastasis	Associate	17109515, 23208506
Neoplasms	Associate	18435854, 20359967, 22322295, 23208506, 25427824, 25950519, 26635363, 27926694, 32530390, 35057760, 35849143, 36854171, 37847650
Neoplasms	Stimulate	35941836
Ovarian Neoplasms	Associate	37196681
Pancreatic Neoplasms	Associate	22322295, 33213062
Parkinson Disease	Associate	26595808
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	37363966
Prostatic Neoplasms	Associate	25950519, 28609657, 35849143
Prostatic Neoplasms Castration Resistant	Associate	35849143
Prostatitis	Associate	20359967
Retinal Dysplasia	Stimulate	27926694
Ring Chromosome 20 Syndrome	Stimulate	37363966
Sarcoma Ewing	Associate	20718987
Stomach Neoplasms	Associate	17109515

TNK2 (tyrosine kinase non receptor 2)