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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 well as in other tissues, and as a heterodimer with a similar muscle isozyme in heart. The encoded protein is a member of the ATP:guanido phosphotransferase protein family. A pseudogene of this gene has been characterized. [provided by RefSeq, Jul 2008]
CKB (Creatine Kinase B) is a Protein Coding gene. Diseases associated with CKB include Macular Telangiectasia Type 2 and Neonatal Hypoxic And Ischemic Brain Injury. Among its related pathways are Abacavir Pathway, Pharmacokinetics/Pharmacodynamics and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and kinase activity. An important paralog of this gene is CKM.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003824 | catalytic activity | IEA | -- |
GO:0004111 | creatine kinase activity | IEA,ISS | -- |
GO:0005515 | protein binding | IPI | 16189514 |
GO:0005524 | ATP binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005615 | extracellular space | ISS | -- |
GO:0005623 | cell | IEA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Metabolism |
.40
|
|
2 | Regulation of activated PAK-2p34 by proteasome mediated degradation | ||
3 | Arginine and proline metabolism | ||
4 | Abacavir Pathway, Pharmacokinetics/Pharmacodynamics | ||
5 | Viral mRNA Translation |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006600 | creatine metabolic process | TAS | -- |
GO:0007420 | brain development | IEA | -- |
GO:0016310 | phosphorylation | IEA | -- |
GO:0021549 | cerebellum development | IEA | -- |
GO:0021762 | substantia nigra development | HEP | 22926577 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Creatine | Approved, Investigational | Nutra | Target, ligand | 176 | ||
Acyclovir | Approved | Pharma | Enzyme, substrate | 117 | ||
Magnesium gluconate | Approved, Investigational | Pharma | Enzyme, substrate, inducer | 0 | ||
Tenofovir disoproxil | Approved, Investigational | Pharma | Enzyme, substrate, inducer | 0 | ||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | · | 4d | · | 4e | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | · | 8c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | CKB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | CKB 30 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | CKB 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Rat (Rattus norvegicus) |
Mammalia | Ckb 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ckb 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | CKB 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | CKB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ckb 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ckba 31 |
|
OneToMany | |
ckbb 30 31 |
|
OneToMany | |||
-- 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1737 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5144 31 32 |
|
ManyToMany | |
CG4546 31 32 |
|
ManyToMany | |||
Argk 31 32 |
|
ManyToMany | |||
CG30274 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | ZC434.8 31 32 |
|
ManyToMany | |
F44G3.2 31 32 |
|
ManyToMany | |||
F46H5.3 31 |
|
ManyToMany | |||
W10C8.5 31 32 |
|
ManyToMany | |||
F11G11.13 31 |
|
ManyToMany | |||
F32B5.1 31 32 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6164 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2638 30 |
|
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1041105054 | Uncertain Significance: Premature ovarian insufficiency | 103,521,351(-) | C/G | MISSENSE_VARIANT | |
rs12505 | - | p.Leu360Phe | |||
rs35156510 | - | p.Ser309Leu | |||
rs36002620 | - | p.Lys177Arg |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3938n54 | CNV | loss | 21841781 |
dgv3939n54 | CNV | loss | 21841781 |
dgv3940n54 | CNV | gain | 21841781 |
dgv3941n54 | CNV | gain+loss | 21841781 |
dgv3942n54 | CNV | gain | 21841781 |
dgv3943n54 | CNV | gain | 21841781 |
dgv3944n54 | CNV | loss | 21841781 |
dgv3945n54 | CNV | gain+loss | 21841781 |
dgv3946n54 | CNV | loss | 21841781 |
esv29714 | CNV | loss | 19812545 |
nsv1044967 | CNV | gain | 25217958 |
nsv1054574 | CNV | loss | 25217958 |
nsv565994 | CNV | gain | 21841781 |
nsv565997 | CNV | loss | 21841781 |
nsv565998 | CNV | loss | 21841781 |
nsv565999 | CNV | gain+loss | 21841781 |
nsv566003 | CNV | gain+loss | 21841781 |
nsv566004 | CNV | gain | 21841781 |
nsv566019 | CNV | gain | 21841781 |
nsv827068 | CNV | loss | 20364138 |
nsv832883 | CNV | loss | 17160897 |
nsv952259 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
macular telangiectasia type 2 |
|
|
neonatal hypoxic and ischemic brain injury |
|
|
subendocardial myocardial infarction |
|
|
cardiac arrest |
|
|
acute myocardial infarction |
|