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Aliases for CKB Gene

Aliases for CKB Gene

  • Creatine Kinase B 2 3 5
  • Creatine Kinase Brain-Type 2 3
  • Creatine Kinase B Chain 3 4
  • EC 2.7.3.2 4 58
  • CKBB 3 4
  • B-CK 3 4
  • Epididymis Secretory Protein Li 29 3
  • Epididymis Luminal Protein 211 3
  • Creatine Kinase, Brain 2
  • Creatine Kinase B-Type 3
  • Creatine Kinase Brain 3
  • HEL-S-29 3
  • EC 2.7.3 58
  • HEL-211 3
  • BCK 3

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 Prostate Rhabdomyosarcoma and Dressler's Syndrome. Among its related pathways are Metabolism and Abacavir Pathway, Pharmacokinetics/Pharmacodynamics. 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 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.

Additional gene information for CKB Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CKB Gene

Genomics for CKB Gene

Regulatory Elements for CKB Gene

Enhancers for CKB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14H103517 1.6 Ensembl ENCODE dbSUPER 24.1 +2.4 2443 6.4 HDGF ARNT ARID4B SIN3A FEZF1 ZNF2 ZBTB7B SLC30A9 ZNF416 ZNF143 XRCC3 MARK3 CKB BAG5 RPL23AP11 CDC42BPB RNU7-160P ENSG00000269940 ENSG00000260285 APOPT1
GH14H103332 2.4 ENCODE dbSUPER 15.7 +188.8 188753 4.7 HDGF PKNOX1 FOXA2 ZFP64 ARID4B SIN3A DMAP1 YY1 ZNF766 ZNF207 BAG5 XRCC3 ENSG00000259775 CKB KLC1 MARK3 ENSG00000260285 ZFYVE21 PIR56134 EIF5
GH14H103512 1.3 Ensembl ENCODE dbSUPER 24.7 +10.0 10039 1.5 CTCF KLF1 KLF17 ZIC2 ZFHX2 GLIS2 SCRT2 ZNF600 MAFK EGR2 MARK3 CKB RNU7-160P GC14M103376 GC14P103445
GH14H103538 1.4 Ensembl ENCODE dbSUPER 22.4 -19.2 -19227 7.1 MLX ZSCAN4 KLF17 SIN3A RAD21 GLIS2 SCRT2 ZNF391 EGR2 GLIS1 MARK3 CKB KLC1 ENSG00000246451 ENSG00000269958 APOPT1 RNU7-160P TRMT61A
GH14H103549 1.7 FANTOM5 Ensembl ENCODE dbSUPER 18 -28.3 -28268 4.1 SOX13 DRAP1 SAP130 ARID4B FEZF1 RAD21 ZIC2 THRB RARA ZFHX2 CKB KLC1 ENSG00000269958 ENSG00000246451 MARK3 PPP1R13B GC14P103554 ENSG00000258851
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CKB on UCSC Golden Path with GeneCards custom track

Promoters for CKB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000073571 1211 2201 HDGF ARNT SIN3A FEZF1 ZNF2 ZBTB7B ZNF416 ZNF143 SP3 NFYC

Genomic Locations for CKB Gene

Genomic Locations for CKB Gene
chr14:103,519,658-103,523,111
(GRCh38/hg38)
Size:
3,454 bases
Orientation:
Minus strand
chr14:103,985,996-103,989,448
(GRCh37/hg19)

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. 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, posLast=223223, posLast=242242, Lys265, posLast=298298, posLast=304304, posLast=307307, and posLast=313313
  • 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

Suggested Antigen Peptide Sequences for CKB Gene

GenScript: Design optimal peptide antigens:

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

GENATLAS Biochemistry:
creatine kinase,brain
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + creatine = ADP + phosphocreatine.
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.

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:0003824 catalytic activity IEA --
GO:0004111 creatine kinase activity TAS,ISS --
GO:0005515 protein binding IPI 16189514
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity 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:

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
extracellular 5
cytosol 5
mitochondrion 4
nucleus 4
cytoskeleton 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:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion 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 IEP 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphocreatine Approved Pharma 9
Creatine Nutra Target, ligand 136
ATP Nutra Agonist 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with CKB: view

Transcripts for CKB Gene

Unigene Clusters for CKB Gene

Creatine kinase, brain:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids 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
ECgene alternative splicing isoforms for
CKB

Expression for CKB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CKB Gene



Protein tissue co-expression partners for CKB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CKB Gene:

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)
  • Intestine(4.4)
  • Heart(4.1)
  • Stomach(4)
  • Muscle(3.9)
  • Kidney(3)
  • Pancreas(2.8)
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 33 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia CKB 33 34
  • 94.23 (n)
-- 34
  • 84 (a)
OneToMany
-- 34
  • 81 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CKB 33 34
  • 93.18 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ckb 33
  • 91.34 (n)
mouse
(Mus musculus)
Mammalia Ckb 33 16 34
  • 90.46 (n)
oppossum
(Monodelphis domestica)
Mammalia CKB 34
  • 38 (a)
OneToOne
chicken
(Gallus gallus)
Aves CKB 33 34
  • 79.44 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 82 (a)
OneToMany
-- 34
  • 79 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ckb 33
  • 74.1 (n)
zebrafish
(Danio rerio)
Actinopterygii ckba 34
  • 84 (a)
OneToMany
ckbb 33 34
  • 77.78 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1737 33
fruit fly
(Drosophila melanogaster)
Insecta Argk 35 34
  • 38 (a)
CG5144 35 34
  • 38 (a)
CG4546 35 34
  • 36 (a)
CG30274 34
  • 19 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea F32B5.1 35 34
  • 40 (a)
ZC434.8 35 34
  • 40 (a)
F44G3.2 35 34
  • 39 (a)
W10C8.5 35 34
  • 39 (a)
F46H5.3 34
  • 37 (a)
ManyToMany
F11G11.13 34
  • 33 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.6164 34
  • 69 (a)
ManyToMany
-- 34
  • 66 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2638 33
Species where no ortholog for CKB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)

Paralogs for CKB Gene

Paralogs for CKB Gene

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

Pseudogenes.org Pseudogenes for CKB Gene

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

Variants for CKB Gene

Sequence variations from dbSNP and Humsavar for CKB Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs1000928715 -- 103,524,166(+) GTGGC(A/G)CAATG upstream-variant-2KB
rs1001043594 -- 103,524,228(+) AGCGC(C/G)TGCTG upstream-variant-2KB
rs1001144563 -- 103,523,937(+) GGAGG(A/G)AAAAA upstream-variant-2KB
rs1001962775 -- 103,523,472(+) CTTAA(A/G)AGGCC upstream-variant-2KB
rs1002224019 -- 103,521,710(+) GATAA(C/G)AGCGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv952259 CNV deletion 24416366
nsv832883 CNV loss 17160897
nsv827068 CNV loss 20364138
nsv566019 CNV gain 21841781
nsv566004 CNV gain 21841781
nsv566003 CNV gain+loss 21841781
nsv565999 CNV gain+loss 21841781
nsv565998 CNV loss 21841781
nsv565997 CNV loss 21841781
nsv565994 CNV gain 21841781
nsv1054574 CNV loss 25217958
nsv1044967 CNV gain 25217958
esv29714 CNV loss 19812545
dgv3946n54 CNV loss 21841781
dgv3945n54 CNV gain+loss 21841781
dgv3944n54 CNV loss 21841781
dgv3943n54 CNV gain 21841781
dgv3942n54 CNV gain 21841781
dgv3941n54 CNV gain+loss 21841781
dgv3940n54 CNV gain 21841781
dgv3939n54 CNV loss 21841781
dgv3938n54 CNV loss 21841781

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)

Relevant External Links for CKB Gene

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

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

Disorders for CKB Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
prostate rhabdomyosarcoma
  • rhabdomyosarcoma of the prostate
dressler's syndrome
  • dressler syndrome
schizophrenia 17
  • schizophrenia susceptibility locus chromosome 2p16-related
neonatal hypoxic and ischemic brain injury
  • hie
prostate sarcoma
  • sarcoma of the prostate
- elite association - COSMIC cancer census association via MalaCards
Search CKB in MalaCards View complete list of genes associated with diseases

Relevant External Links for CKB

Genetic Association Database (GAD)
CKB
Human Genome Epidemiology (HuGE) Navigator
CKB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CKB
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 22 25 60
  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 22 45 60
  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 60
  4. Reduced creatine kinase B activity in multiple sclerosis normal appearing white matter. (PMID: 20520825) Steen C … De Keyser J (PloS one 2010) 3 22 60
  5. Proteomic surveillance of retinal autoantigens in endogenous uveitis: implication of esterase D and brain-type creatine kinase as novel autoantigens. (PMID: 18552983) Okunuki Y … Takeuchi M (Molecular vision 2008) 3 22 60

Products for CKB Gene

Sources for CKB Gene

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