CHKB (choline kinase beta)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1120
Gene name Choline kinase beta
Gene symbol CHKB
Synonyms (NCBI Gene)
CHETKCHKLCKCKBCKEKBEKEKBMDCMC
Chromosome 22
Chromosome location 22q13.33
Summary 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.
5
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612395 1938 ENSG00000100288
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
360
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CHKB-related disorder Pathogenic rs750764003 RCV004755750
Megaconial type congenital muscular dystrophy Pathogenic; Likely pathogenic rs2146652075, rs80067609, rs2146653379, rs2146656234, rs1045370021, rs139059552, rs2146653193, rs771681297, rs786205118, rs1252318649, rs772568756, rs2522778329, rs2522775487, rs2522784063, rs2522783978
View all (17 more)		 RCV001388730
RCV001385174
RCV001542808
RCV001808876
RCV001928889
RCV002007590
RCV001946948
RCV001909114
RCV003090230
RCV002510642
RCV003031054
RCV003126383
RCV003126384
RCV003526487
RCV003526498
RCV003641813
RCV003640419
RCV003640599
RCV003641876
RCV003834060
RCV000329772
RCV000023942
RCV000023943
RCV000023944
RCV000023945
RCV000023946
RCV001255615
RCV000532491
RCV000644791
RCV000706926
RCV000779377
RCV000785116
RCV000791740
Muscular dystrophy Likely pathogenic rs2146656742 RCV001795875
See cases Likely pathogenic rs2146656223 RCV002252622
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital Muscular Dystrophy, CHKB-related Conflicting classifications of pathogenicity; Uncertain significance rs766816072, rs1569052732 RCV000380946
RCV000785119
Seizure Uncertain significance rs769546336 RCV000626876
Severe global developmental delay Uncertain significance rs769546336 RCV000626876
Show/Hide Text Mining Associations (12)
Associations from Text MiningDisease 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