Gene Gene information from NCBI Gene database.
Entrez ID 1453
Gene name Casein kinase 1 delta
Gene symbol CSNK1D
Synonyms (NCBI Gene)
ASPSCKI-deltaCKIdCKIdeltaFASPS2HCKID
Chromosome 17
Chromosome location 17q25.3
Summary This gene is a member of the casein kinase I (CKI) gene family whose members have been implicated in the control of cytoplasmic and nuclear processes, including DNA replication and repair. The encoded protein may also be involved in the regulation of apop
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs104894561 T>C Pathogenic Non coding transcript variant, missense variant, coding sequence variant
rs397514693 T>C Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
763
miRTarBase ID miRNA Experiments Reference
MIRT001640 hsa-let-7b-5p pSILAC 18668040
MIRT016176 hsa-miR-590-3p Sequencing 20371350
MIRT001640 hsa-let-7b-5p Proteomics;Other 18668040
MIRT610086 hsa-miR-8485 HITS-CLIP 23824327
MIRT610085 hsa-miR-329-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004672 Function Protein kinase activity IDA 16618118
GO:0004672 Function Protein kinase activity IEA
GO:0004672 Function Protein kinase activity IMP 19591487
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
600864 2452 ENSG00000141551
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48730
Protein name Casein kinase I isoform delta (CKI-delta) (CKId) (EC 2.7.11.1) (Tau-protein kinase CSNK1D) (EC 2.7.11.26)
Protein function Essential serine/threonine-protein kinase that regulates diverse cellular growth and survival processes including Wnt signaling, DNA repair and circadian rhythms. It can phosphorylate a large number of proteins. Casein kinases are operationally
PDB 3UYS , 3UYT , 3UZP , 4HGT , 4HNF , 4KB8 , 4KBA , 4KBC , 4KBK , 4TN6 , 4TW9 , 4TWC , 5IH4 , 5IH5 , 5IH6 , 5MQV , 5OKT , 5W4W , 6F1W , 6F26 , 6GZM , 6HMP , 6HMR , 6PXN , 6PXO , 6PXP , 6RCG , 6RCH , 6RU6 , 6RU7 , 6RU8 , 7NZY , 7P7F , 7P7G , 7P7H , 7QR9 , 7QRA , 7QRB , 8D7M , 8D7N , 8D7O , 8D7P , 8IZC , 8VXD , 8VXF , 9B3S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00069 Pkinase 9 271 Protein kinase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined, including brain, heart, lung, liver, pancreas, kidney, placenta and skeletal muscle. However, kinase activity is not uniform, with highest kinase activity in splenocytes. In blood, highly expressed in
Sequence
Sequence length 415
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Hedgehog signaling pathway
Hippo signaling pathway
Gap junction
Circadian rhythm
  COPII-mediated vesicle transport
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.).
5
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
Advanced sleep phase syndrome 2 Pathogenic rs104894561, rs397514693 RCV000009280
RCV000043507
★★★★☆
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
ADVANCED SLEEP PHASE SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CSNK1D-related disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL ADVANCED SLEEP-PHASE SYNDROME Orphanet
★★☆☆☆
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
Adenoma Adenoma LHGDN 17131344
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyps Adenomatous Polyposis BEFREE 17131344
★☆☆☆☆
Found in Text Mining only
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 Sleep Phase Syndrome UNIPROT_DG 15800623, 23636092
★☆☆☆☆
Found in Text Mining only
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 Sleep Phase Syndrome GENOMICS_ENGLAND_DG 15800623, 25660813
★☆☆☆☆
Found in Text Mining only
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 Sleep Phase Syndrome CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Advanced Sleep-Phase Syndrome, Familial Advanced Sleep Phase Syndrome BEFREE 15800623
★☆☆☆☆
Found in Text Mining only
Advanced Sleep-Phase Syndrome, Familial Advanced Sleep Phase Syndrome ORPHANET_DG 15800623
★☆☆☆☆
Found in Text Mining only
Advanced Sleep-Phase Syndrome, Familial Advanced Sleep Phase Syndrome CTD_human_DG
★☆☆☆☆
Found in Text Mining only
Alveolar Soft Part Sarcoma Alveolar Sarcoma BEFREE 19636271, 21552147
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 14761950, 21811019 Associate
★☆☆☆☆
Found in Text Mining only