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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10188
Gene name Gene Name - the full gene name approved by the HGNC.	Tyrosine kinase non receptor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TNK2
Synonyms (NCBI Gene) Gene synonyms aliases	ACK, ACK-1, ACK1, p21cdc42Hs
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q29
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Show/Hide all(39)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004712	Function	Protein serine/threonine/tyrosine kinase activity	IDA	16257963
GO:0004713	Function	Protein tyrosine kinase activity	IBA	21873635
GO:0004713	Function	Protein tyrosine kinase activity	IDA	18993068
GO:0004715	Function	Non-membrane spanning protein tyrosine kinase activity	IBA	21873635
GO:0005095	Function	GTPase inhibitor activity	TAS	8497321
GO:0005102	Function	Signaling receptor binding	IBA	21873635
GO:0005154	Function	Epidermal growth factor receptor binding	IDA	20086093
GO:0005515	Function	Protein binding	IPI	10360579, 10587647, 11157984, 17038317, 19798056, 20333297, 22939624, 23686771, 25416956, 26496610, 31980649
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	20333297
GO:0005737	Component	Cytoplasm	IDA	20979614
GO:0005768	Component	Endosome	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	20333297, 20979614
GO:0005905	Component	Clathrin-coated pit	IDA	21169560
GO:0005912	Component	Adherens junction	IEA
GO:0006897	Process	Endocytosis	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	TAS	20432460
GO:0007169	Process	Transmembrane receptor protein tyrosine kinase signaling pathway	IBA	21873635
GO:0007264	Process	Small GTPase mediated signal transduction	TAS	8497321
GO:0016020	Component	Membrane	HDA	19946888
GO:0016310	Process	Phosphorylation	IDA	20333297, 20979614
GO:0030136	Component	Clathrin-coated vesicle	IDA	18262180
GO:0030154	Process	Cell differentiation	IBA	21873635
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031234	Component	Extrinsic component of cytoplasmic side of plasma membrane	IBA	21873635
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	23686771
GO:0034260	Process	Negative regulation of GTPase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16472662, 25416956
GO:0045087	Process	Innate immune response	IBA	21873635
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:0070436	Component	Grb2-EGFR complex	IDA	20086093
GO:0097268	Component	Cytoophidium	IDA	25223282
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	IDA	18262180

MIM	HGNC	e!Ensembl
606994	19297	ENSG00000061938

Protein

UniProt ID

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 (4)

Disease term	Disease name	dbSNP ID	References
Causal
Ethylmalonic encephalopathy	Ethylmalonic encephalopathy	rs28940289, rs119103249, rs387906987, rs267605525, rs863223954, rs745656120, rs863223955, rs935855792, rs756235299, rs1555762722, rs763799125, rs769259233, rs1284200516, rs1555765701, rs1555765689 View all (10 more)	23686771
Gastric cancer	Gastric Adenocarcinoma	rs137854571, rs63751108, rs34612342, rs121908383, rs121909144, rs121909775, rs121909219, rs121909223, rs63750871, rs80359530, rs121964873, rs121913530, rs606231203, rs121918505, rs587776802 View all (244 more)
Lung adenocarcinoma	Adenocarcinoma of lung (disorder)	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370 View all (5 more)
Parkinson disease	Parkinson Disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432 View all (84 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Mesial Temporal Lobe Epilepsy With Cognitive Regression	infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	GenCC
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	GWAS

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining
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)