PLK4 (polo like kinase 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10733
Gene name Gene Name - the full gene name approved by the HGNC.
Polo like kinase 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PLK4
Synonyms (NCBI Gene) Gene synonyms aliases
MCCRP2, SAK, STK18
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q28.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the polo family of serine/threonine protein kinases. The protein localizes to centrioles, complex microtubule-based structures found in centrosomes, and regulates centriole duplication during the cell cycle. Three alternative
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs724159995 C>G Pathogenic Intron variant
rs724159996 TAAAG>- Pathogenic Frameshift variant, coding sequence variant, intron variant
rs1379328798 C>G Likely-pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(25)
miRTarBase ID miRNA Experiments Reference
MIRT024738 hsa-miR-215-5p Microarray 19074876
MIRT026169 hsa-miR-192-5p Microarray 19074876
MIRT735559 hsa-miR-654-3p Luciferase reporter assay, Western blotting, Immunohistochemistry (IHC), qRT-PCR 32884289
MIRT736915 hsa-miR-126-3p Luciferase reporter assay, Western blotting, Immunofluorescence, qRT-PCR 33416109
MIRT1242963 hsa-miR-129-5p CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
E2F4 Unknown 24071582
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(46)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0001741 Component XY body IEA
GO:0004672 Function Protein kinase activity IEA
GO:0004674 Function Protein serine/threonine kinase activity IDA 21725316, 27796307
GO:0004674 Function Protein serine/threonine kinase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605031 11397 ENSG00000142731
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O00444
Protein name Serine/threonine-protein kinase PLK4 (EC 2.7.11.21) (Polo-like kinase 4) (PLK-4) (Serine/threonine-protein kinase 18) (Serine/threonine-protein kinase Sak)
Protein function Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SAS
PDB 2N19 , 3COK , 4JXF , 4N7V , 4N7Z , 4N9J , 4YUR , 4YYP , 5LHY , 5LHZ , 6N45 , 6N46 , 6W38 , 6W3I , 6W3J , 8XPG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 12 → 265 Protein kinase domain Domain
PF18190 Plk4_PB1 591 → 697 Polo-like Kinase 4 Polo Box 1 Domain
PF18409 Plk4_PB2 699 → 807 Polo-like Kinase 4 Polo Box 2 Domain
Sequence 
MATCIGEKIEDFKVGNLLGKGSFAGVYRAESIHTGLEVAIKMIDKKAMYKAGMVQRVQNE
VKIHCQLKHPSILELYNYFEDSNYVYLVLEMCHNGEMNRYLKNRVKPFSENEARHFMHQI
ITGMLYLHSHGILHRDLTLSNLLLTRNMNIKIADFGLATQLKMPHEKHYTLCGTPNYISP
EIATRSAHGLESDVWSLGCMFYTLLIGRPPFDTDTVKNTLNKVVLADYEMPSFLSIEAKD
LIHQLLRRNPADRLSLSSVLDHPFMSRNSSTKSKDLGTVEDSIDSGHATISTAITASSST
SISGSLFDKRRLLIGQPLPNKMTVFPKNKSSTDFSSSGDGNSFYTQWGNQETSNSGRGRV
IQDAEERPHSRYLRRAYSSDRSGTSNSQSQAKTYTMERCHSAEMLSVSKRSGGGENEERY
SPTDNNANIFNFFKEKTSSSSGSFERPDNNQALSNHLCPGKTPFPFADPTPQTETVQQWF
GNLQINAHLRKTTEYDSISPNRDFQGHPDLQKDTSKNAWTDTKVKKNSDASDNAHSVKQQ
NTMKYMTALHSKPEIIQQECVFGSDPLSEQSKTRGMEPPWGYQNRTLRSITSPLVAHRLK
PIRQKTKKAVVSILDSEEVCVELVKEYASQEYVKEVLQISSDGNTITIYYPNGGRGFPLA
DRPPSPTDNISRYSFDNLPEKYWRKYQYASRFVQLVRSKSPKITYFTRYAKCILMENSPG
ADFEVWFYDGVKIHKTEDFIQVIEKTGKSYTLKSESEVNSLKEEIKMYMDHANEGHRICL
ALESIISEEERKTRSAPFFPIIIGRKPGSTSSPKALSPPPSVDSNYPTRERASFNRMVMH
SAASPTQAPILNPSMVTNEGLGLTTTASGTDISSNSLKDCLPKSAQLLKSVFVKNVGWAT
QLTSGAVWVQFNDGSQLVVQAGVSSISYTSPNGQTTRYGENEKLPDYIKQKLQCLSSILL
MFSNPTPNFH
Sequence length 970
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  FoxO signaling pathway   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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Microcephaly with Chorioretinopathy Microcephaly and chorioretinopathy 2 rs724159995 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Rhabdoid Tumor Rhabdoid tumor Mutations in PLK4 significantly impaired rhabdoid tumor cell growth.PLK4 is overexpressed in MRTs, RTK, AT/RTs, and other embryonal brain tumors 28398638 CBGDA
Seckel Syndrome Seckel syndrome N/A N/A GenCC
Show/Hide Text Mining Associations (55)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 21609466
Abortion Habitual Associate 28238495
Adenocarcinoma of Lung Associate 34080290
Aneuploidy Associate 31489978, 35536377
Autosomal Recessive Primary Microcephaly Associate 27650967, 35536377
Azoospermia Associate 26452337, 35366911
Azoospermia Nonobstructive Associate 26452337
Breast Neoplasms Associate 17465192, 30337519, 31142743, 34933912
Carcinogenesis Inhibit 29352113
Carcinogenesis Associate 35670224