Gene Gene information from NCBI Gene database.
Entrez ID 1454
Gene name Casein kinase 1 epsilon
Gene symbol CSNK1E
Synonyms (NCBI Gene)
CKIeCKIepsilonHCKIE
Chromosome 22
Chromosome location 22q13.1
Summary The protein encoded by this gene is a serine/threonine protein kinase and a member of the casein kinase I protein family, whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The enc
miRNA miRNA information provided by mirtarbase database.
463
miRTarBase ID miRNA Experiments Reference
MIRT047921 hsa-miR-30c-5p CLASH 23622248
MIRT045612 hsa-miR-149-5p CLASH 23622248
MIRT676632 hsa-miR-646 HITS-CLIP 23824327
MIRT676630 hsa-miR-1207-3p HITS-CLIP 23824327
MIRT676629 hsa-miR-6814-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
58
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003723 Function RNA binding HDA 22681889
GO:0004672 Function Protein kinase activity IDA 14722104, 17244647
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity ISS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600863 2453 ENSG00000213923
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49674
Protein name Casein kinase I isoform epsilon (CKI-epsilon) (CKIe) (EC 2.7.11.1)
Protein function Casein kinases are operationally defined by their preferential utilization of acidic proteins such as caseins as substrates (Probable). Participates in Wnt signaling (PubMed:12556519, PubMed:23413191). Phosphorylates DVL1 (PubMed:12556519). Phos
PDB 4HNI , 4HOK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 9 270 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined, including brain, heart, lung, liver, pancreas, kidney, placenta and skeletal muscle. Expressed in monocytes and lymphocytes but not in granulocytes.
Sequence
Sequence length 416
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  FoxO signaling pathway
Wnt signaling pathway
Hedgehog signaling pathway
Hippo signaling pathway
Hippo signaling pathway - multiple species
Circadian rhythm
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
  WNT mediated activation of DVL
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
Major pathway of rRNA processing in the nucleolus and cytosol
AURKA Activation by TPX2
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
8
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Developmental and epileptic encephalopathy, 1 Pathogenic rs1569077009 RCV000721134
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATAXIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY WITH SUPPRESSION BURSTS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 29113166
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 29118923
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 29881994 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis, Sporadic Lateral Sclerosis BEFREE 29881994
★☆☆☆☆
Found in Text Mining only
Bipolar Disorder Bipolar Disorder BEFREE 12565145, 18228528, 22981886, 26283580, 30445897, 31323592
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar Disorder PSYGENET_DG 12565145, 18228528, 20072116, 22743604, 22981886
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bipolar Disorder Bipolar disorder Pubtator 18228528, 26283580 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 20126544, 20507565, 20979026, 23822714, 26327509, 29455641
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 20507565, 23822714, 24098497, 26327509 Associate
★☆☆☆☆
Found in Text Mining only