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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4751
Gene name	NIMA related kinase 2
Gene symbol	NEK2
Synonyms (NCBI Gene)	HsPK21NEK2ANLK1PPP1R111RP67
Chromosome	1
Chromosome location	1q32.3
Summary	This gene encodes a serine/threonine-protein kinase that is involved in mitotic regulation. This protein is localized to the centrosome, and undetectable during G1 phase, but accumulates progressively throughout the S phase, reaching maximal levels in lat

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SNP ID	Visualize variation	Clinical significance	Consequence
rs398122961	CTCATACA>T	Pathogenic	Coding sequence variant, frameshift variant

Show/Hide all (79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022077	hsa-miR-128-3p	Microarray	17612493
MIRT048925	hsa-miR-92a-3p	CLASH	23622248
MIRT022077	hsa-miR-128-3p	HT29	24046120
MIRT733367	hsa-miR-329-3p	Luciferase reporter assayqRT-PCRWestern blotting	32190004
MIRT733367	hsa-miR-329-3p	Luciferase reporter assayqRT-PCRWestern blotting	32190004
MIRT736489	hsa-miR-3174	MicroarrayqRT-PCR	33094914
MIRT1180102	hsa-miR-153	CLIP-seq
MIRT1180103	hsa-miR-186	CLIP-seq
MIRT1180104	hsa-miR-3074-3p	CLIP-seq
MIRT1180105	hsa-miR-3133	CLIP-seq
MIRT1180106	hsa-miR-448	CLIP-seq
MIRT1180107	hsa-miR-944	CLIP-seq
MIRT1180108	hsa-miR-1227	CLIP-seq
MIRT1180109	hsa-miR-378g	CLIP-seq
MIRT1180110	hsa-miR-4252	CLIP-seq
MIRT1180111	hsa-miR-4793-3p	CLIP-seq
MIRT1180112	hsa-miR-4797-5p	CLIP-seq
MIRT1180113	hsa-miR-508-5p	CLIP-seq
MIRT1180114	hsa-miR-548v	CLIP-seq
MIRT1180115	hsa-miR-661	CLIP-seq
MIRT1180116	hsa-miR-766	CLIP-seq
MIRT1180104	hsa-miR-3074-3p	CLIP-seq
MIRT1180117	hsa-miR-3120-3p	CLIP-seq
MIRT1180118	hsa-miR-4310	CLIP-seq
MIRT2052131	hsa-miR-451b	CLIP-seq
MIRT1180117	hsa-miR-3120-3p	CLIP-seq
MIRT2281441	hsa-miR-421	CLIP-seq
MIRT2281442	hsa-miR-4272	CLIP-seq
MIRT1180118	hsa-miR-4310	CLIP-seq
MIRT2455047	hsa-miR-34b	CLIP-seq
MIRT2455048	hsa-miR-3685	CLIP-seq
MIRT2455049	hsa-miR-377	CLIP-seq
MIRT2455050	hsa-miR-3923	CLIP-seq
MIRT2455051	hsa-miR-4326	CLIP-seq
MIRT2455052	hsa-miR-628-3p	CLIP-seq
MIRT2579790	hsa-miR-1827	CLIP-seq
MIRT2579791	hsa-miR-3613-3p	CLIP-seq
MIRT2579792	hsa-miR-3672	CLIP-seq
MIRT2579793	hsa-miR-3689a-3p	CLIP-seq
MIRT2579794	hsa-miR-3689c	CLIP-seq
MIRT2579795	hsa-miR-371-5p	CLIP-seq
MIRT2579796	hsa-miR-371b-5p	CLIP-seq
MIRT1180109	hsa-miR-378g	CLIP-seq
MIRT1180110	hsa-miR-4252	CLIP-seq
MIRT2579797	hsa-miR-4684-5p	CLIP-seq
MIRT2579798	hsa-miR-4728-5p	CLIP-seq
MIRT1180111	hsa-miR-4793-3p	CLIP-seq
MIRT1180112	hsa-miR-4797-5p	CLIP-seq
MIRT1180113	hsa-miR-508-5p	CLIP-seq
MIRT2579799	hsa-miR-548c-3p	CLIP-seq
MIRT1180114	hsa-miR-548v	CLIP-seq
MIRT1180115	hsa-miR-661	CLIP-seq
MIRT2579800	hsa-miR-759	CLIP-seq
MIRT1180116	hsa-miR-766	CLIP-seq
MIRT1180108	hsa-miR-1227	CLIP-seq
MIRT2579790	hsa-miR-1827	CLIP-seq
MIRT2686151	hsa-miR-1908	CLIP-seq
MIRT2686152	hsa-miR-3612	CLIP-seq
MIRT2579791	hsa-miR-3613-3p	CLIP-seq
MIRT2579792	hsa-miR-3672	CLIP-seq
MIRT2579793	hsa-miR-3689a-3p	CLIP-seq
MIRT2579794	hsa-miR-3689c	CLIP-seq
MIRT2579795	hsa-miR-371-5p	CLIP-seq
MIRT2579796	hsa-miR-371b-5p	CLIP-seq
MIRT1180109	hsa-miR-378g	CLIP-seq
MIRT1180110	hsa-miR-4252	CLIP-seq
MIRT2686153	hsa-miR-4327	CLIP-seq
MIRT2579797	hsa-miR-4684-5p	CLIP-seq
MIRT2579798	hsa-miR-4728-5p	CLIP-seq
MIRT1180111	hsa-miR-4793-3p	CLIP-seq
MIRT1180112	hsa-miR-4797-5p	CLIP-seq
MIRT1180113	hsa-miR-508-5p	CLIP-seq
MIRT2579799	hsa-miR-548c-3p	CLIP-seq
MIRT1180114	hsa-miR-548v	CLIP-seq
MIRT2686154	hsa-miR-650	CLIP-seq
MIRT1180115	hsa-miR-661	CLIP-seq
MIRT2686155	hsa-miR-663	CLIP-seq
MIRT2579800	hsa-miR-759	CLIP-seq
MIRT1180116	hsa-miR-766	CLIP-seq

Show/Hide all (67)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000070	Process	Mitotic sister chromatid segregation	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	IEA
GO:0000278	Process	Mitotic cell cycle	TAS	9430639
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	17621308
GO:0000776	Component	Kinetochore	IDA	14978040
GO:0000776	Component	Kinetochore	IEA
GO:0000793	Component	Condensed chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000922	Component	Spindle pole	IEA
GO:0001824	Process	Blastocyst development	IEA
GO:0004672	Function	Protein kinase activity	IDA	10880350, 18086858, 26220856
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	24554434
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	9430639, 16280549
GO:0005515	Function	Protein binding	IPI	9647649, 10880350, 14978040, 15161910, 16648845, 17621308, 18086858, 21382349, 21900206, 23288039, 24116158, 24554434, 26220856, 26290419, 30404835, 33961781, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614, 26220856
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	TAS	9430639
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005929	Component	Cilium	IDA
GO:0006468	Process	Protein phosphorylation	IDA	21076410
GO:0006468	Process	Protein phosphorylation	IMP	24554434
GO:0007059	Process	Chromosome segregation	IBA
GO:0007059	Process	Chromosome segregation	IDA	14978040
GO:0007059	Process	Chromosome segregation	IEA
GO:0007059	Process	Chromosome segregation	IEA
GO:0007088	Process	Regulation of mitotic nuclear division	TAS	9430639
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0019903	Function	Protein phosphatase binding	IPI	10880350
GO:0030496	Component	Midbody	IEA
GO:0031981	Component	Nuclear lumen	IEA
GO:0032206	Process	Positive regulation of telomere maintenance	IMP	21531765
GO:0032991	Component	Protein-containing complex	IMP	10880350
GO:0036064	Component	Ciliary basal body	IDA
GO:0045171	Component	Intercellular bridge	IDA
GO:0046602	Process	Regulation of mitotic centrosome separation	IMP	26220856
GO:0046602	Process	Regulation of mitotic centrosome separation	TAS	16280549
GO:0046777	Process	Protein autophosphorylation	IDA	17626005
GO:0046777	Process	Protein autophosphorylation	IMP	10880350
GO:0046872	Function	Metal ion binding	IEA
GO:0051225	Process	Spindle assembly	IEA
GO:0051225	Process	Spindle assembly	TAS	16280549
GO:0051299	Process	Centrosome separation	IDA	18086858
GO:0051301	Process	Cell division	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IMP	18297113
GO:0090307	Process	Mitotic spindle assembly	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903126	Process	Negative regulation of centriole-centriole cohesion	IMP	24554434

MIM	HGNC	e!Ensembl
604043	7745	ENSG00000117650

P51955

Protein name

Serine/threonine-protein kinase Nek2 (EC 2.7.11.1) (HSPK 21) (Never in mitosis A-related kinase 2) (NimA-related protein kinase 2) (NimA-like protein kinase 1)

Protein function

Protein kinase which is involved in the control of centrosome separation and bipolar spindle formation in mitotic cells and chromatin condensation in meiotic cells. Regulates centrosome separation (essential for the formation of bipolar spindles

PDB

2JAV , 2W5A , 2W5B , 2W5H , 2WQO , 2XK3 , 2XK4 , 2XK6 , 2XK7 , 2XK8 , 2XKC , 2XKD , 2XKE , 2XKF , 2XNM , 2XNN , 2XNO , 2XNP , 4A4X , 4AFE , 5M51 , 5M53 , 5M55 , 5M57 , 6SGD , 6SGH , 6SGI , 6SGK , 6SK9 , 6TM5

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	8 → 271	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in peripheral blood T-cells and a wide variety of transformed cell types. Isoform 1 and isoform 4 are expressed in the testis. Up-regulated in various cancer cell lines, as well as primary breast t

Sequence

MPSRAEDYEVLYTIGTGSYGRCQKIRRKSDGKILVWKELDYGSMTEAEKQMLVSEVNLLR
ELKHPNIVRYYDRIIDRTNTTLYIVMEYCEGGDLASVITKGTKERQYLDEEFVLRVMTQL
TLALKECHRRSDGGHTVLHRDLKPANVFLDGKQNVKLGDFGLARILNHDTSFAKTFVGTP
YYMSPEQMNRMSYNEKSDIWSLGCLLYELCALMPPFTAFSQKELAGKIREGKFRRIPYRY
SDELNEIITRMLNLKDYHRPSVEEILENPLIADLVADEQRRNLERRGRQLGEPEKSQDSS
PVLSELKLKEIQLQERERALKAREERLEQKEQELCVRERLAEDKLARAENLLKNYSLLKE
RKFLSLASNPELLNLPSSVIKKKVHFSGESKENIMRSENSESQLTSKSKCKDLKKRLHAA
QLRAQALSDIEKNYQLKSRQILGMR

Sequence length

445

Interactions

View interactions

	Reactome
			APC-Cdc20 mediated degradation of Nek2A Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Retinal dystrophy	Likely pathogenic	rs1655077098, rs1050943261, rs763584429, rs2464395714, rs773878112	RCV003890429 RCV003890440 RCV003890444 RCV003890462 RCV003890473
Retinitis pigmentosa 67	Pathogenic	rs398122961	RCV000076909

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Lung cancer	Uncertain significance	rs201869074	RCV005911108
Malignant lymphoma, large B-cell, diffuse	Uncertain significance	rs146297864	RCV005911033
Malignant tumor of urinary bladder	Likely benign	rs145931962	RCV005923967
NEK2-related disorder	Uncertain significance; Likely benign; Benign	rs146297864, rs533273372, rs45623136, rs34267138, rs181112920	RCV004758158 RCV003943994 RCV003915839 RCV003926213 RCV003908407
Thymoma	Uncertain significance	rs201869074	RCV005911107

Show/Hide Text Mining Associations (56)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	34818353
Adenocarcinoma of Lung	Associate	34850664, 36499051, 40222041
Aneuploidy	Associate	20034488, 24369428
Breast Neoplasms	Associate	23340795, 23497539, 23776583, 24091727, 24489661, 24797070, 26290419, 29330624, 32558224, 35139887, 37958803
Carcinogenesis	Associate	28759960, 29399700, 36738674
Carcinoma Hepatocellular	Associate	22539975, 26337275, 28086821, 28101574, 28759960, 31822116, 33109182, 33157984, 33540684, 33946043, 35545405, 39596041
Carcinoma Hepatocellular	Stimulate	29399700
Carcinoma Intraductal Noninfiltrating	Associate	35880695
Carcinoma Non Small Cell Lung	Associate	24763826, 28509438
Carcinoma Non Small Cell Lung	Stimulate	35105934
Carcinoma Pancreatic Ductal	Associate	24966957, 29483831
Carcinoma Renal Cell	Associate	24763884, 26061684
Carcinoma Renal Cell	Stimulate	34910592
Carcinoma Squamous Cell	Associate	36499051
Cholangiocarcinoma	Stimulate	22879911
Chromosomal Instability	Associate	24091727
Colorectal Neoplasms	Associate	26823916, 28514100, 31519156, 33190424, 34959120
Constriction Pathologic	Associate	22879911
Ductus Arteriosus Patent	Stimulate	24966957
Endometrial Neoplasms	Associate	31355251
Esophageal Neoplasms	Associate	32443386
Esophageal Squamous Cell Carcinoma	Associate	35705994
Fever	Associate	33537819
Gallbladder Neoplasms	Associate	40220284
Glioma	Associate	30575919
Hypotension	Associate	32504181
Infertility	Associate	28643089
Lung Neoplasms	Associate	28514100, 28808310
Lung Neoplasms	Stimulate	40222041
Lupus Erythematosus Systemic	Associate	37072474
Lymphatic Metastasis	Stimulate	24966957
Lymphatic Metastasis	Associate	26823916
Lymphoma Large B Cell Diffuse	Associate	12594241, 37072474
Melanoma	Associate	29949142
Melanoma Cutaneous Malignant	Associate	29949142
Mosaic variegated aneuploidy syndrome	Associate	32054769
Multiple Myeloma	Associate	25313354, 28086949, 35088582
Nasopharyngeal Carcinoma	Stimulate	30295336
Neoplasm Metastasis	Associate	28101574, 28509438, 29399700
Neoplasm Metastasis	Stimulate	35105934, 40222041
Neoplasms	Associate	17626005, 20034488, 20664067, 23340795, 24369428, 25313354, 26337275, 28101574, 28759960, 29399700, 30295336, 31249448, 32033228, 32035007, 32504181 View all (4 more)
Neoplasms	Stimulate	28808310, 35105934, 40220284
Neurofibroma Plexiform	Associate	23370767
Neurofibrosarcoma	Associate	23370767
Obesity	Associate	29330624
Ovarian Neoplasms	Associate	26992217, 31646554, 34072728
Pancreatic Neoplasms	Stimulate	22879911
Pancreatic Neoplasms	Associate	32537471
Prostatic Neoplasms	Associate	30720160
Small Cell Lung Carcinoma	Associate	32504181, 37399175
Squamous Cell Carcinoma of Head and Neck	Stimulate	37667354
Status Asthmaticus	Associate	34088958
Stomach Neoplasms	Associate	31249448, 33537819
Stomach Neoplasms	Stimulate	36738674
Triple Negative Breast Neoplasms	Associate	34930366
Uterine Cervical Neoplasms	Associate	23052694, 36115593

NEK2 (NIMA related kinase 2)