Gene Gene information from NCBI Gene database.
Entrez ID 1152
Gene name Creatine kinase B
Gene symbol CKB
Synonyms (NCBI Gene)
B-CKBCKCKBBCPK-BHEL-211HEL-S-29
Chromosome 14
Chromosome location 14q32.33
Summary The protein encoded by this gene is a cytoplasmic enzyme involved in energy homeostasis. The encoded protein reversibly catalyzes the transfer of phosphate between ATP and various phosphogens such as creatine phosphate. It acts as a homodimer in brain as
miRNA miRNA information provided by mirtarbase database.
45
miRTarBase ID miRNA Experiments Reference
MIRT052190 hsa-let-7b-5p CLASH 23622248
MIRT049124 hsa-miR-92a-3p CLASH 23622248
MIRT044642 hsa-miR-320a CLASH 23622248
MIRT043074 hsa-miR-324-5p CLASH 23622248
MIRT042718 hsa-miR-346 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0003824 Function Catalytic activity IEA
GO:0004111 Function Creatine kinase activity IBA
GO:0004111 Function Creatine kinase activity IDA 8186255
GO:0004111 Function Creatine kinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
123280 1991 ENSG00000166165
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P12277
Protein name Creatine kinase B-type (EC 2.7.3.2) (Brain creatine kinase) (B-CK) (Creatine kinase B chain) (Creatine phosphokinase B-type) (CPK-B)
Protein function Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate) (PubMed:8186255). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demand
PDB 3B6R , 3DRB , 3DRE , 6V9H , 7BF1 , 7TUN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02807 ATP-gua_PtransN 24 94 ATP:guanido phosphotransferase, N-terminal domain Domain
PF00217 ATP-gua_Ptrans 153 367 ATP:guanido phosphotransferase, C-terminal catalytic domain Domain
Sequence
Sequence length 381
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Arginine and proline metabolism
Metabolic pathways
  Creatine metabolism
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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)
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
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE GWAS catalog
★★☆☆☆
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
Acute Coronary Syndrome Coronary Syndrome CTD_human_DG 15966572
★☆☆☆☆
Found in Text Mining only
Acute schizophrenia Schizophrenia PSYGENET_DG 22623148
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 6948128
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Basal Cell Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Oxyphilic Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma, Tubular Adenocarcinoma CTD_human_DG 15378696
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 10820214 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15375609
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 3733865 Associate
★☆☆☆☆
Found in Text Mining only