Human Gene CKB (ENST00000348956.7) from GENCODE V44
  Description: Homo sapiens creatine kinase B (CKB), transcript variant 1, mRNA. (from RefSeq NM_001823)
RefSeq Summary (NM_001823): 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].
Gencode Transcript: ENST00000348956.7
Gencode Gene: ENSG00000166165.14
Transcript (Including UTRs)
   Position: hg38 chr14:103,519,667-103,522,830 Size: 3,164 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg38 chr14:103,519,864-103,522,493 Size: 2,630 Coding Exon Count: 7 

Page IndexSequence and LinksPrimersMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureOther SpeciesmRNA DescriptionsPathwaysOther Names
Methods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:103,519,667-103,522,830)mRNA (may differ from genome)Protein (381 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: CKB
Diseases sorted by gene-association score: prostate rhabdomyosarcoma (16), dressler's syndrome (16), schizophrenia 17 (12), neonatal hypoxic and ischemic brain injury (11), prostate sarcoma (11), acute myocardial infarction (7), cardiac arrest (7), bacterial meningitis (6), small cell cancer of the lung, somatic (6), myxedema (5), spinal muscular atrophy-3 (5), salmonellosis (4), xanthinuria, type i (4), nephrolithiasis, calcium oxalate (4), myocardial infarction (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 783.95 RPKM in Brain - Cortex
Total median expression: 12819.04 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -29.3077-0.381 Picture PostScript Text
3' UTR -55.20197-0.280 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsemblWormBase 
Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence 
AlignmentAlignmentAlignmentAlignmentAlignment 

-  Descriptions from all associated GenBank mRNAs
  AK290101 - Homo sapiens cDNA FLJ78469 complete cds, highly similar to Homo sapiens creatine kinase, brain (CKB), mRNA.
BC019259 - Homo sapiens creatine kinase, brain, mRNA (cDNA clone MGC:2140 IMAGE:3503057), complete cds.
EU794629 - Homo sapiens epididymis secretory protein Li 29 (HEL-S-29) mRNA, complete cds.
BC010002 - Homo sapiens creatine kinase, brain, mRNA (cDNA clone MGC:16766 IMAGE:4135106), complete cds.
L47647 - Homo sapiens creatine kinase B mRNA, complete cds.
BC001190 - Homo sapiens creatine kinase, brain, mRNA (cDNA clone MGC:3160 IMAGE:3354679), complete cds.
BC019281 - Homo sapiens creatine kinase, brain, mRNA (cDNA clone MGC:3967 IMAGE:2823530), complete cds.
AK298198 - Homo sapiens cDNA FLJ52237 complete cds, highly similar to Creatine kinase B-type (EC 2.7.3.2).
M16364 - Human creatine kinase-B mRNA, complete cds.
M16451 - Human creatine kinase b-subunit mRNA, complete cds.
BC004914 - Homo sapiens creatine kinase, brain, mRNA (cDNA clone MGC:4752 IMAGE:3537262), complete cds.
BC008323 - Homo sapiens creatine kinase, brain, mRNA (cDNA clone MGC:15764 IMAGE:3358085), complete cds.
JD449844 - Sequence 430868 from Patent EP1572962.
DL491484 - Novel nucleic acids.
CR542268 - Homo sapiens full open reading frame cDNA clone RZPDo834G0426D for gene CKB, creatine kinase, brain; complete cds, incl. stopcodon.
FJ224337 - Homo sapiens epididymis luminal protein 211 (HEL-211) mRNA, complete cds.
AK312282 - Homo sapiens cDNA, FLJ92581, highly similar to Homo sapiens creatine kinase, brain (CKB), mRNA.
JF432538 - Synthetic construct Homo sapiens clone IMAGE:100073761 creatine kinase, brain (CKB) gene, encodes complete protein.
KJ896610 - Synthetic construct Homo sapiens clone ccsbBroadEn_06004 CKB gene, encodes complete protein.
KJ896611 - Synthetic construct Homo sapiens clone ccsbBroadEn_06005 CKB gene, encodes complete protein.
KJ905172 - Synthetic construct Homo sapiens clone ccsbBroadEn_14584 CKB gene, encodes complete protein.
KU177977 - Homo sapiens creatine kinase brain isoform 1 (CKB) mRNA, partial cds.
KU177978 - Homo sapiens creatine kinase brain isoform 2 (CKB) mRNA, partial cds, alternatively spliced.
CU676412 - Synthetic construct Homo sapiens gateway clone IMAGE:100017140 5' read CKB mRNA.
LF212515 - JP 2014500723-A/20018: Polycomb-Associated Non-Coding RNAs.
MA448092 - JP 2018138019-A/20018: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00330 - Arginine and proline metabolism
hsa01100 - Metabolic pathways

BioCyc Knowledge Library
PWY-6158 - creatine-phosphate biosynthesis

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000348956.1, ENST00000348956.2, ENST00000348956.3, ENST00000348956.4, ENST00000348956.5, ENST00000348956.6, NM_001823, uc001ynf.1, uc001ynf.2, uc001ynf.3, uc001ynf.4, V9HWH2
UCSC ID: ENST00000348956.7
RefSeq Accession: NM_001823
CCDS: CCDS9981.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.