Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1020
Gene name Gene Name - the full gene name approved by the HGNC.
Cyclin dependent kinase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDK5
Synonyms (NCBI Gene) Gene synonyms aliases
LIS7, PSSALRE
Disease Acronyms (UniProt) Disease acronyms from UniProt database
LIS7
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q36.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs786205164 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020734 hsa-miR-155-5p Proteomics 18668040
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000083 Process Regulation of transcription involved in G1/S transition of mitotic cell cycle IBA 21873635
GO:0000226 Process Microtubule cytoskeleton organization TAS 17491008
GO:0001764 Process Neuron migration TAS 21473899
GO:0001963 Process Synaptic transmission, dopaminergic IEA
GO:0002039 Function P53 binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123831 1774 ENSG00000164885
Protein
UniProt ID 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
Sequence length 292
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Agenesis of corpus callosum Agenesis of corpus callosum rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Arthrogryposis multiplex congenita Arthrogryposis rs1586285494, rs80358233, rs137853305, rs1559154278, rs398124167, rs398124172, rs587780399, rs786204576, rs786204430, rs769345284, rs749355583, rs793888524, rs793888525, rs878854368, rs555445835
View all (138 more)
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Lissencephaly Lissencephaly rs137853043, rs137853044, rs137853045, rs137853046, rs137853047, rs137853048, rs137853049, rs137853050, rs121434482, rs121434483, rs1567561137, rs121434485, rs121434486, rs121434487, rs121434489
View all (183 more)
Associations from Text Mining
Disease Name Relationship Type References
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