CHKB (choline kinase beta)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1120
Gene name Gene Name - the full gene name approved by the HGNC.
Choline kinase beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHKB
Synonyms (NCBI Gene) Gene synonyms aliases
CHETK, CHKL, CK, CKB, CKEKB, EK, EKB, MDCMC
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells.
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT440947 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440947 hsa-miR-218-5p HITS-CLIP 23212916
MIRT2200076 hsa-miR-3664-3p CLIP-seq
MIRT2200077 hsa-miR-510 CLIP-seq
MIRT2200078 hsa-miR-873 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004103 Function Choline kinase activity IBA
GO:0004103 Function Choline kinase activity IDA 19915674
GO:0004103 Function Choline kinase activity IEA
GO:0004305 Function Ethanolamine kinase activity IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612395 1938 ENSG00000100288
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y259
Protein name Choline/ethanolamine kinase (Choline kinase beta) (CK) (CKB) (EC 2.7.1.32) (Choline kinase-like protein) (Ethanolamine kinase) (EK) (EC 2.7.1.82) (Ethanolamine kinase beta) (EKB) (choline/ethanolamine kinase beta) (CKEKB)
Protein function Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis.
PDB 2IG7 , 3FEG , 3LQ3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01633 Choline_kinase 97 → 308 Family
Sequence 
MAAEATAVAGSGAVGGCLAKDGLQQSKCPDTTPKRRRASSLSRDAERRAYQWCREYLGGA
WRRVQPEELRVYPVSGGLSNLLFRCSLPDHLPSVGEEPREVLLRLYGAILQGVDSLVLES
VMFAILAERSLGPQLYGVFPEGRLEQYIPSRPLKTQELREPVLSAAIATKMAQFHGMEMP
FTKEPHWLFGTMERYLKQIQDLPPTGLPEMNLLEMYSLKDEMGNLRKLLESTPSPVVFCH
NDIQEGNILLLSEPENADSLMLVDFEYSSYNYRGFDIGNHFCEWVYDYTHEEWPFYKARP
TDYPTQEQQLHFIRHYLAEAKKGETLSQEEQRKLEEDLLVEVSRYALASHFFWGLWSILQ
ASMSTIEFGYLDYAQSRFQFYFQQKGQLTSVHSSS
Sequence length 395
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Glycerophospholipid metabolism
Metabolic pathways
Choline metabolism in cancer 		  Synthesis of PC
Synthesis of PE
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA 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
Congenital Muscular Dystrophy Megaconial type congenital muscular dystrophy rs387907068, rs757369551, rs786205117, rs387907069, rs786205118, rs371751084, rs373091820, rs1333100080, rs1555894289, rs1569054508, rs752436924, rs750764003, rs1569054086 N/A
Show/Hide Unknown Diseases (1)
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
Narcolepsy Narcolepsy N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Cytochrome c Oxidase Deficiency Associate 22782513
Disorders of Excessive Somnolence Associate 19404393
Eczema Associate 27123443
Lung Neoplasms Associate 25022454
Mitochondrial Myopathies Associate 22782513
Muscular Dystrophies Associate 21665002
Muscular Dystrophy Congenital Megaconial Type Associate 34518586, 36896673
Narcolepsy Associate 19404393, 24571861
Pruritus Associate 27123443
Sarcoma Experimental Associate 19404393