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	1020
Gene name	Cyclin dependent kinase 5
Gene symbol	CDK5
Synonyms (NCBI Gene)	LIS7PSSALRE
Chromosome	7
Chromosome location	7q36.1
Summary	This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs786205164	C>T	Pathogenic	Splice donor variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020734	hsa-miR-155-5p	Proteomics	18668040

155

Show/Hide all (155)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	TAS	17491008
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IPI	16039528
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	ISS
GO:0001764	Process	Neuron migration	IEA
GO:0001764	Process	Neuron migration	TAS	21473899
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0002039	Function	P53 binding	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	TAS	1639063, 7834371
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	20357208, 21145489, 24607229
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	NAS	28386764
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	1639063, 17491008
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IBA
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	TAS
GO:0005176	Function	ErbB-2 class receptor binding	IEA
GO:0005176	Function	ErbB-2 class receptor binding	ISS
GO:0005515	Function	Protein binding	IPI	8090221, 12223541, 14521924, 15689152, 15890360, 20133653, 20559324, 21220307, 22078880, 23455922, 23543736, 23602568, 25416956, 25852190, 26871637, 27107012, 28514442, 30833792, 32296183, 32707033, 32814053, 33961781, 34591612, 35016035, 35271311
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005874	Component	Microtubule	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007160	Process	Cell-matrix adhesion	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	21473899
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0007409	Process	Axonogenesis	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0007416	Process	Synapse assembly	TAS	21473899
GO:0007519	Process	Skeletal muscle tissue development	IEA
GO:0008017	Function	Microtubule binding	TAS	17491008
GO:0008045	Process	Motor neuron axon guidance	IEA
GO:0008306	Process	Associative learning	IEA
GO:0008542	Process	Visual learning	IEA
GO:0014044	Process	Schwann cell development	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	ISS
GO:0016079	Process	Synaptic vesicle exocytosis	TAS	21473899
GO:0016241	Process	Regulation of macroautophagy	TAS	21499257
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	ISS
GO:0016477	Process	Cell migration	IEA
GO:0016533	Component	Protein kinase 5 complex	IEA
GO:0016533	Component	Protein kinase 5 complex	IPI	15689152, 16039528
GO:0016533	Component	Protein kinase 5 complex	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0019233	Process	Sensory perception of pain	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021695	Process	Cerebellar cortex development	IEA
GO:0021697	Process	Cerebellar cortex formation	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021819	Process	Layer formation in cerebral cortex	IEA
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030036	Process	Actin cytoskeleton organization	TAS	21473899
GO:0030054	Component	Cell junction	IDA
GO:0030175	Component	Filopodium	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	ISS
GO:0030182	Process	Neuron differentiation	TAS	21473899
GO:0030334	Process	Regulation of cell migration	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030517	Process	Negative regulation of axon extension	IEA
GO:0030547	Function	Signaling receptor inhibitor activity	IMP	24607229
GO:0030549	Function	Acetylcholine receptor activator activity	IEA
GO:0030549	Function	Acetylcholine receptor activator activity	ISS
GO:0030900	Process	Forebrain development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0031175	Process	Neuron projection development	TAS	17491008
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0031594	Component	Neuromuscular junction	ISS
GO:0031914	Process	Negative regulation of synaptic plasticity	IEA
GO:0032801	Process	Receptor catabolic process	IEA
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IPI	24607229
GO:0035418	Process	Protein localization to synapse	IEA
GO:0042220	Process	Response to cocaine	IEA
GO:0042981	Process	Regulation of apoptotic process	TAS	21473899
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0043113	Process	Receptor clustering	IEA
GO:0043125	Function	ErbB-3 class receptor binding	IEA
GO:0043125	Function	ErbB-3 class receptor binding	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	ISS
GO:0045202	Component	Synapse	IEA
GO:0045786	Process	Negative regulation of cell cycle	IEA
GO:0045861	Process	Negative regulation of proteolysis	IMP	24548080
GO:0045892	Process	Negative regulation of DNA-templated transcription	IMP	20357208
GO:0045956	Process	Positive regulation of calcium ion-dependent exocytosis	IEA
GO:0046826	Process	Negative regulation of protein export from nucleus	IEA
GO:0048148	Process	Behavioral response to cocaine	IEA
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	TAS	21473899, 24607229
GO:0048488	Process	Synaptic vesicle endocytosis	TAS	21473899
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0048511	Process	Rhythmic process	IEA
GO:0048675	Process	Axon extension	TAS	21473899
GO:0048709	Process	Oligodendrocyte differentiation	IDA	18042622
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0050321	Function	Tau-protein kinase activity	ISS
GO:0050321	Function	Tau-protein kinase activity	NAS	28386764
GO:0051301	Process	Cell division	IEA
GO:0051402	Process	Neuron apoptotic process	IBA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051402	Process	Neuron apoptotic process	TAS	21473899
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	TAS	21473899
GO:0051879	Function	Hsp90 protein binding	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IEA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS
GO:0070509	Process	Calcium ion import	IEA
GO:0090314	Process	Positive regulation of protein targeting to membrane	IEA
GO:0098793	Component	Presynapse	IEA
GO:0099533	Process	Positive regulation of presynaptic cytosolic calcium concentration	ISS
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1901987	Process	Regulation of cell cycle phase transition	IBA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	ISS
GO:1903234	Process	Negative regulation of calcium ion-dependent exocytosis of neurotransmitter	ISS
GO:1903421	Process	Regulation of synaptic vesicle recycling	NAS	22745285
GO:1904646	Process	Cellular response to amyloid-beta	ISS

MIM	HGNC	e!Ensembl
123831	1774	ENSG00000164885

Q00535

Protein name

Cyclin-dependent kinase 5 (EC 2.7.11.1) (Cell division protein kinase 5) (Cyclin-dependent-like kinase 5) (Serine/threonine-protein kinase PSSALRE) (Tau protein kinase II catalytic subunit) (TPKII catalytic subunit)

Protein function

Proline-directed serine/threonine-protein kinase essential for neuronal cell cycle arrest and differentiation and may be involved in apoptotic cell death in neuronal diseases by triggering abortive cell cycle re-entry. Interacts with D1 and D3-t

PDB

1H4L , 1UNG , 1UNH , 1UNL , 3O0G , 4AU8 , 7VDP , 7VDQ , 7VDR , 7VDS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	4 → 286	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: [Isoform 1]: Ubiquitously expressed (PubMed:17009320, PubMed:19693690). Accumulates in cortical neurons (at protein level) (PubMed:17009320). {ECO:0000269|PubMed:17009320, ECO:0000269|PubMed:19693690}.; TISSUE SPECIFICITY: [Isoform 2]:

Sequence

MQKYEKLEKIGEGTYGTVFKAKNRETHEIVALKRVRLDDDDEGVPSSALREICLLKELKH
KNIVRLHDVLHSDKKLTLVFEFCDQDLKKYFDSCNGDLDPEIVKSFLFQLLKGLGFCHSR
NVLHRDLKPQNLLINRNGELKLADFGLARAFGIPVRCYSAEVVTLWYRPPDVLFGAKLYS
TSIDMWSAGCIFAELANAGRPLFPGNDVDDQLKRIFRLLGTPTEEQWPSMTKLPDYKPYP
MYPATTSLVNVVPKLNATGRDLLQNLLKCNPVQRISAEEALQHPYFSDFCPP

Sequence length

292

Interactions

View interactions

	KEGG		Reactome
	Axon guidance Alzheimer disease Pathways of neurodegeneration - multiple diseases Cocaine addiction		DARPP-32 events CRMPs in Sema3A signaling Regulation of TP53 Activity through Phosphorylation Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon adenocarcinoma	Likely pathogenic	rs2486426172	RCV005927744
Lissencephaly 7 with cerebellar hypoplasia	Pathogenic; Likely pathogenic	rs786205164, rs2486426172	RCV000170351 RCV004584568

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CDK5-related disorder	Benign; Likely benign	rs2069460, rs531146226, rs1344288403	RCV003904779 RCV003914051 RCV003949508
Hepatocellular carcinoma	Benign	rs3214589	RCV005869705
Nonpapillary renal cell carcinoma	Benign	rs3214589	RCV005869706

Show/Hide Text Mining Associations (80)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Stimulate	25371063
Adenocarcinoma	Associate	26555036
Adenocarcinoma of Lung	Associate	22696682, 31363080
Alzheimer Disease	Associate	12230554, 12826674, 12860412, 19534817, 19615060, 20513426, 23377270, 25851605, 27343180, 29027727, 29948941, 29997370, 30016411, 36561735, 39773760
Attention Deficit Disorder with Hyperactivity	Associate	28754891
Auditory Perceptual Disorders	Associate	28754891
Autistic Disorder	Associate	36039581
Brain Diseases	Associate	38200156
Brain Injuries Traumatic	Associate	38200156
Brain Ischemia	Associate	17493033
Breast Neoplasms	Associate	24121667, 25096995, 26237679, 32352232, 37682166
Carcinogenesis	Associate	22696682, 24121667, 26205145, 26339373, 26555036
Carcinoid Tumor	Associate	22696682
Carcinoma Adenosquamous	Associate	27406233
Carcinoma Hepatocellular	Associate	33023330, 34925377, 36995937
Carcinoma Non Small Cell Lung	Stimulate	26860827
Carcinoma Non Small Cell Lung	Associate	34795058, 40682474
Carcinoma Pancreatic Ductal	Associate	21825040, 33960694
Carcinoma Renal Cell	Associate	31311512, 37024096, 39273671
Carcinoma Squamous Cell	Associate	26555036
Cerebral Infarction	Associate	17493033
Charcot Marie Tooth Disease	Associate	23728742
Cholesteatoma Middle Ear	Associate	34875451
Colonic Neoplasms	Associate	37039746
Colorectal Neoplasms	Associate	27735944, 37039746
Diabetes Mellitus Type 2	Associate	19718565, 30728419
Diffuse Neurofibrillary Tangles with Calcification	Associate	19615060
Disruptive Impulse Control and Conduct Disorders	Associate	28754891
Drug Related Side Effects and Adverse Reactions	Associate	21289309
Frontotemporal Lobar Degeneration	Associate	36949537
Glioblastoma	Associate	11296485, 33924599, 39849652
Glioma	Associate	22829587, 26205145
Graves Ophthalmopathy	Associate	30733969
Hypoxia	Associate	24098701
Hypoxia Brain	Associate	24098701
Inflammation	Associate	34875451
Kidney Neoplasms	Associate	31311512
Leukemia	Associate	21145489
Leukemia Myeloid Acute	Associate	35514210
Lung Neoplasms	Associate	22696682, 26555036, 26860827
Lymphatic Metastasis	Associate	26339373, 26860827
Lymphatic Metastasis	Stimulate	27406233
Lymphoma Mantle Cell	Associate	20427703
Lymphoma Non Hodgkin	Associate	39849652
Malformations of Cortical Development Group I	Associate	18490454, 31646584
Mandibular Nerve Injuries	Associate	38200156
Medulloblastoma	Associate	34795058
Mental Disorders	Associate	28754891
Multiple Myeloma	Associate	21289309, 28351297
Myocardial Ischemia	Associate	17493033
Nasopharyngeal Carcinoma	Associate	26339373
Neoplasm Metastasis	Associate	24841903, 26237679, 27735944
Neoplasm Metastasis	Inhibit	30431123
Neoplasms	Associate	20181942, 20516069, 24091658, 24121667, 25371063, 25851605, 26237679, 26339373, 26555036, 26860827, 27406233, 27735944, 30367578, 30431123, 32352232 View all (5 more)
Neoplasms	Inhibit	20673369, 31311512, 37024096
Nerve Degeneration	Associate	15485494, 15741232, 18490454, 23955241, 38200156
Neuroblastoma	Associate	15485494, 17156427, 33384420
Neurodegenerative Diseases	Associate	12230554, 14704484, 19534817, 27343180, 30016411, 30209341
Neurotoxicity Syndromes	Associate	29948941
Niemann Pick Disease Type C	Associate	26339373
Obesity	Associate	37555665
Ovarian Neoplasms	Associate	32588513
Pancreatic Neoplasms	Associate	21825040, 28052097, 28242758, 31467029, 33960694
Parkinson Disease	Associate	19050041, 35182267, 40594234
Personality Disorders	Associate	26205145
Pituitary Neoplasms	Associate	27438154
Prolactinoma	Associate	27438154
Prostatic Neoplasms	Associate	24841903, 24851929, 25851605, 30367578
Prostatitis	Associate	24841903
Small Cell Lung Carcinoma	Stimulate	26860827
Squamous Cell Carcinoma of Head and Neck	Associate	35143052
Stomach Diseases	Inhibit	30431123
Stomach Neoplasms	Associate	28373767, 30431123
Stroke	Associate	17493033, 24098701
Tetralogy of Fallot	Associate	30977211
Thyroid Neoplasms	Associate	40304806
Triple Negative Breast Neoplasms	Associate	37569854
Uterine Cervical Neoplasms	Stimulate	27406233
Uterine Cervical Neoplasms	Associate	31266812
Uterine Cervicitis	Associate	27406233

CDK5 (cyclin dependent kinase 5)