Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1152
Gene name Gene Name - the full gene name approved by the HGNC.
Creatine kinase B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CKB
Synonyms (NCBI Gene) Gene synonyms aliases
B-CK, BCK, CKBB, CPK-B, HEL-211, HEL-S-29
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.33
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
123280 1991 ENSG00000166165
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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
Coronary artery disease Coronary artery disease N/A N/A GWAS
Pancreatic cancer Pancreatic cancer N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 36750132
Acute Kidney Injury Associate 37396184
Adenocarcinoma of Lung Associate 33021972
Alzheimer Disease Inhibit 10820214
Breast Neoplasms Associate 3733865
Carcinogenesis Associate 27149373
Carcinoma Small Cell Stimulate 30358701
Carcinoma Squamous Cell Associate 22500095
Colorectal Neoplasms Inhibit 21308735
Creatine deficiency X linked Associate 23049898