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... See more...

Aliases for CKB Gene

Aliases for CKB Gene

  • Creatine Kinase B 2 3 5
  • Creatine Phosphokinase B-Type 3 4
  • Creatine Kinase Brain-Type 2 3
  • Creatine Kinase B Chain 3 4
  • Creatine Kinase B-Type 3 4
  • Brain Creatine Kinase 3 4
  • EC 2.7.3.2 4 51
  • CPK-B 3 4
  • B-CK 3 4
  • CKBB 3 4
  • Epididymis Secretory Protein Li 29 3
  • Epididymis Luminal Protein 211 3
  • Creatine Kinase, Brain 2
  • Creatine Kinase Brain 3
  • HEL-S-29 3
  • EC 2.7.3 51
  • HEL-211 3
  • BCK 3
  • CKB 5

External Ids for CKB Gene

Previous HGNC Symbols for CKB Gene

  • CKBB

Previous GeneCards Identifiers for CKB Gene

  • GC14M101377
  • GC14M097801
  • GC14M101976
  • GC14M103055
  • GC14M103986

Summaries for CKB Gene

Entrez Gene Summary for CKB 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 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]

GeneCards Summary for CKB Gene

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.

UniProtKB/Swiss-Prot Summary for CKB Gene

  • Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CKB Gene

Genomics for CKB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CKB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CKB on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CKB

Top Transcription factor binding sites by QIAGEN in the CKB gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • Max1
  • SRY
  • USF-1
  • USF-1:USF-2
  • USF1

Genomic Locations for CKB Gene

Genomic Locations for CKB Gene
chr14:103,519,667-103,522,833
(GRCh38/hg38)
Size:
3,167 bases
Orientation:
Minus strand
chr14:103,985,996-103,989,448
(GRCh37/hg19)
Size:
3,453 bases
Orientation:
Minus strand

Genomic View for CKB Gene

Genes around CKB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CKB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CKB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CKB Gene

Proteins for CKB Gene

  • Protein details for CKB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12277-KCRB_HUMAN
    Recommended name:
    Creatine kinase B-type
    Protein Accession:
    P12277
    Secondary Accessions:
    • A8K236
    • B2R5R4
    • Q2LE07
    • Q6FG40
    • Q9UC66

    Protein attributes for CKB Gene

    Size:
    381 amino acids
    Molecular mass:
    42644 Da
    Quaternary structure:
    • Dimer of identical or non-identical chains, which can be either B (brain type) or M (muscle type). With MM being the major form in skeletal muscle and myocardium, MB existing in myocardium, and BB existing in many tissues, especially brain.

    Three dimensional structures from OCA and Proteopedia for CKB Gene

neXtProt entry for CKB Gene

Selected DME Specific Peptides for CKB Gene

P12277:
  • RLQKRGTGGVDT
  • VAGDEESY
  • RAGVHIK
  • HNDNKTFLVW
  • LIDDHFLFDKPVSPLL
  • DARGIWHN
  • GGDDLDP
  • NEEDHLR
  • DRHGGYKP
  • SEVELVQ
  • KLRFPAEDEFPDLS
  • GMARDWPDARGIWHN
  • GDLAGRYY
  • FLVWVNEEDH
  • TPSGFTLDD
  • QQQLIDDHFLF
  • HNNHMAK
  • DARGIWHNDNK
  • DDVIQTGVDNPGHP
  • NEEDHLRVI
  • CPSNLGT
  • MTEAEQQQLIDDHFLFDKPVSP
  • VFKDLFDP
  • LTCPSNLGTGLR
  • AGDEESY
  • LPPHCSRGERR
  • YVLSSRVRTGRSI
  • SNADRLGFSEVE

Post-translational modifications for CKB Gene

  • Ubiquitination at Lys11, Lys223, Lys242, Lys265, Lys298, Lys304, Lys307, and Lys313
  • Modification sites at PhosphoSitePlus

Domains & Families for CKB Gene

Gene Families for CKB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CKB Gene

Suggested Antigen Peptide Sequences for CKB Gene

GenScript: Design optimal peptide antigens:
  • Creatine kinase B chain (KCRB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P12277

UniProtKB/Swiss-Prot:

KCRB_HUMAN :
  • Belongs to the ATP:guanido phosphotransferase family.
Family:
  • Belongs to the ATP:guanido phosphotransferase family.
genes like me logo Genes that share domains with CKB: view

Function for CKB Gene

Molecular function for CKB Gene

UniProtKB/Swiss-Prot Function:
Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + creatine = ADP + H(+) + N-phosphocreatine; Xref=Rhea:RHEA:17157, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57947, ChEBI:CHEBI:58092, ChEBI:CHEBI:456216; EC=2.7.3.2; Evidence={ECO:0000255|PROSITE-ProRule:PRU10029};.
GENATLAS Biochemistry:
creatine kinase,brain

Enzyme Numbers (IUBMB) for CKB Gene

Phenotypes From GWAS Catalog for CKB Gene

Gene Ontology (GO) - Molecular Function for CKB Gene

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 --
genes like me logo Genes that share ontologies with CKB: view
genes like me logo Genes that share phenotypes with CKB: view

Animal Models for CKB Gene

MGI Knock Outs for CKB:
  • Ckb Ckb<tm1.1(KOMP)Wtsi>
  • Ckb Ckb<tm1Bew>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CKB

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CKB Gene

Localization for CKB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CKB Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CKB gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CKB Gene

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 --
genes like me logo Genes that share ontologies with CKB: view

Pathways & Interactions for CKB Gene

genes like me logo Genes that share pathways with CKB: view

Pathways by source for CKB Gene

Gene Ontology (GO) - Biological Process for CKB Gene

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
genes like me logo Genes that share ontologies with CKB: view

No data available for SIGNOR curated interactions for CKB Gene

Drugs & Compounds for CKB Gene

(21) Drugs for CKB Gene - From: DrugBank, HMDB, and Novoseek

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

(12) Additional Compounds for CKB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
genes like me logo Genes that share compounds with CKB: view

Transcripts for CKB Gene

mRNA/cDNA for CKB Gene

2 REFSEQ mRNAs :
20 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CKB

Alternative Splicing Database (ASD) splice patterns (SP) for CKB Gene

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: - - -

Relevant External Links for CKB Gene

GeneLoc Exon Structure for
CKB

Expression for CKB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CKB Gene

Protein differential expression in normal tissues from HIPED for CKB Gene

This gene is overexpressed in Retina (13.0), Brain (6.7), and Cardia (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CKB Gene



Protein tissue co-expression partners for CKB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CKB

SOURCE GeneReport for Unigene cluster for CKB Gene:

Hs.173724

Evidence on tissue expression from TISSUES for CKB Gene

  • Nervous system(5)
  • Eye(4.9)
  • Lung(4.8)
  • Heart(4.6)
  • Intestine(4.5)
  • Stomach(4.2)
  • Muscle(4)
  • Kidney(3.4)
  • Pancreas(3.2)
  • Skin(2.9)
  • Thyroid gland(2.4)
  • Adrenal gland(2.3)
  • Blood(2.2)
  • Liver(2.2)
genes like me logo Genes that share expression patterns with CKB: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CKB Gene

Orthologs for CKB Gene

This gene was present in the common ancestor of animals.

Orthologs for CKB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CKB 30 31
  • 99.74 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CKB 30 31
  • 94.23 (n)
OneToMany
-- 31
  • 84 (a)
OneToMany
-- 31
  • 81 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CKB 30 31
  • 93.18 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 92 (a)
OneToMany
-- 31
  • 88 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Ckb 30
  • 91.34 (n)
Mouse
(Mus musculus)
Mammalia Ckb 30 17 31
  • 90.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CKB 31
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CKB 30 31
  • 79.44 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 82 (a)
OneToMany
-- 31
  • 79 (a)
OneToMany
-- 31
  • 76 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ckb 30
  • 74.1 (n)
Zebrafish
(Danio rerio)
Actinopterygii ckba 31
  • 84 (a)
OneToMany
ckbb 30 31
  • 77.78 (n)
OneToMany
-- 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1737 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG5144 31 32
  • 35 (a)
ManyToMany
CG4546 31 32
  • 29 (a)
ManyToMany
Argk 31 32
  • 28 (a)
ManyToMany
CG30274 31
  • 19 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea ZC434.8 31 32
  • 40 (a)
ManyToMany
F44G3.2 31 32
  • 38 (a)
ManyToMany
F46H5.3 31
  • 37 (a)
ManyToMany
W10C8.5 31 32
  • 36 (a)
ManyToMany
F11G11.13 31
  • 33 (a)
ManyToMany
F32B5.1 31 32
  • 33 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.6164 31
  • 69 (a)
ManyToMany
-- 31
  • 66 (a)
ManyToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2638 30
Species where no ortholog for CKB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CKB Gene

ENSEMBL:
Gene Tree for CKB (if available)
TreeFam:
Gene Tree for CKB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CKB: view image

Paralogs for CKB Gene

Paralogs for CKB Gene

(4) SIMAP similar genes for CKB Gene using alignment to 7 proteins:

  • KCRB_HUMAN
  • G3V2I1_HUMAN
  • G3V461_HUMAN
  • G3V4N7_HUMAN
  • H0YJG0_HUMAN
  • H0YJJ7_HUMAN
  • H0YJK0_HUMAN

Pseudogenes.org Pseudogenes for CKB Gene

genes like me logo Genes that share paralogs with CKB: view

Variants for CKB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CKB Gene

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

Additional dbSNP identifiers (rs#s) for CKB Gene

Structural Variations from Database of Genomic Variants (DGV) for CKB Gene

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

Variation tolerance for CKB Gene

Residual Variation Intolerance Score: 43.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.82; 17.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CKB Gene

Human Gene Mutation Database (HGMD)
CKB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CKB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKB Gene

Disorders for CKB Gene

MalaCards: The human disease database

(14) MalaCards diseases for CKB Gene - From: DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CKB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CKB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CKB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CKB Gene

Publications for CKB Gene

  1. Ankyrin repeat and suppressors of cytokine signaling box protein asb-9 targets creatine kinase B for degradation. (PMID: 17148442) Debrincat MA … Hilton DJ (The Journal of biological chemistry 2007) 3 23 26
  2. Functional candidate genes in age-related macular degeneration: significant association with VEGF, VLDLR, and LRP6. (PMID: 16384981) Haines JL … Pericak-Vance MA (Investigative ophthalmology & visual science 2006) 3 23 41
  3. Creatine kinase B is necessary to limit myoblast fusion during myogenesis. (PMID: 25810257) Simionescu-Bankston A … Pavlath GK (American journal of physiology. Cell physiology 2015) 2 3
  4. Reduced creatine kinase B activity in multiple sclerosis normal appearing white matter. (PMID: 20520825) Steen C … De Keyser J (PloS one 2010) 3 23
  5. Structural studies of human brain-type creatine kinase complexed with the ADP-Mg2+-NO3- -creatine transition-state analogue complex. (PMID: 18977227) Bong SM … Hwang KY (FEBS letters 2008) 3 4

Products for CKB Gene

Sources for CKB Gene