Aliases for CKB Gene
Aliases for CKB Gene
External Ids for CKB Gene
- HGNC: 1991
- Entrez Gene: 1152
- Ensembl: ENSG00000166165
- OMIM: 123280
- UniProtKB: P12277
Previous HGNC Symbols for CKB Gene
- CKBB
Previous GeneCards Identifiers for CKB Gene
- GC14M101377
- GC14M097801
- GC14M101976
- GC14M103055
- GC14M103986
Summaries 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 Subendocardial Myocardial Infarction. Among its related pathways are Metabolism and Arginine and proline metabolism. 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 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
- Monarch Initiative
- Search for CKB at DataMed
- Search for CKB at HumanCyc
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
GeneHancer (GH) Regulatory Elements for CKB Gene
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 UCSC Golden Path with GeneCards custom track
- 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
- chr14:103,519,658-103,523,111
- (GRCh38/hg38)
- Size:
- 3,454 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:
-
- 14q32.33 by HGNC
- 14q32.33 by Entrez Gene
- 14q32.33 by Ensembl
CKB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression 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
Other Protein References for CKB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CKB
- Novus Biologicals Antibodies for CKB
-
Abcam antibodies for CKB
- Invitrogen Antibodies for CKB (AFLGC-CKB)
-
Santa Cruz Biotechnology (SCBT) Antibodies for CKB
- Sino Biological Antibodies for CKB
Protein Products
-
OriGene Purified Proteins for CKB
- Search Origene for MassSpec and Protein Over-expression Lysates for CKB
- Origene Custom Protein Services for CKB
- Sino Biological Recombinant Proteins for CKB
- Sino Biological Cell Lysates for CKB
- ProSpec Recombinant Proteins for CKB
-
ProSci Proteins for CKB
-
Abcam proteins for CKB
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- Family:
-
- Belongs to the ATP:guanido phosphotransferase family.
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=. ;.
- GENATLAS Biochemistry:
- creatine kinase,brain
Enzyme Numbers (IUBMB) for CKB Gene
Phenotypes From GWAS Catalog for CKB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004111 | creatine kinase activity | ISS | -- |
| GO:0005515 | protein binding | IPI | 16189514 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016301 | kinase activity | IEA | -- |
Phenotypes for CKB Gene
- MGI mutant phenotypes for CKB:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CKB:
-
- Dynamic nuclei (hole, folded or small irregular)
- Decreased viability in esophageal squamous lineage
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
- Decreased viability
- no effect
- Decreased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- Downregulation of NFkappaB pathway
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased 12E8 tau but not total tau protein expression and decreased ratio of 12E8/total tau protein expression
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
- Transferrin accumulation in the perinuclear area
- Decreased vesicular stomatitis virus (VSV) infection
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CKB
-
CRISPR Products
-
OriGene CRISPR knockouts for CKB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CKB
- genomics-online: gRNA clones - Search results for available CKB gene related products
- Applied Biological Materials (abm): CRISPR Clones for CKB - Now 50% OFF >
- * CKB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CKB CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CKB
miRNA for CKB Gene
- miRTarBase miRNAs that target CKB
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CKB
- Browse OriGene Inhibitory RNA Products For CKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CKB
- genomics-online: shRNA clones - Search results for available CKB gene related products
Clone Products
- Applied Biological Materials (abm): Clones for CKB - Now 50% OFF >
- * CKB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CKB tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG205953
- MR205953
- MR205953L1
- MR205953L1V
- MR205953L2
- MR205953L2V
- MR205953L3
- MR205953L3V
- MR205953L4
- MR205953L4V
- RC203669
- RC203669L1
- RC203669L1V
- RC203669L2
- RC203669L2V
- RC203669L3
- RC203669L3V
- RC203669L4
- RC203669L4V
- RG203669
- RR210613
- RR210613L1
- RR210613L1V
- RR210613L2
- RR210613L2V
- RR210613L3
- RR210613L3V
- RR210613L4
- RR210613L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CKB
- Addgene plasmids for CKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CKB
- genomics-online: cdna clones - Search results for available CKB gene related products
- orf clones - Search results for available CKB gene related products
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 4 |
| extracellular | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | ISS | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | TAS,IDA | -- |
| GO:0030425 | dendrite | IEA | -- |
Pathways & Interactions for CKB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Metabolism |
.38
|
|
| 2 | CDK-mediated phosphorylation and removal of Cdc6 | ||
| 3 | Arginine and proline metabolism | ||
| 4 | Abacavir Pathway, Pharmacokinetics/Pharmacodynamics | ||
| 5 | Viral mRNA Translation | ||
Pathways by source for CKB Gene
1 BioSystems pathway for CKB Gene
4 Reactome pathways for CKB Gene
1 PharmGKB pathway for CKB Gene
2 KEGG pathways for CKB Gene
Interacting Proteins for CKB Gene
Selected Interacting proteins:
P12277-KCRB_HUMAN
ENSP00000299198
for CKB Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CKB
| 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 |
No data available for SIGNOR curated interactions for CKB Gene
Drugs & Compounds for CKB Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Creatine | Approved, Investigational | Nutra | Target, ligand | 152 | ||
| Magnesium gluconate | Approved, Investigational | Pharma | Enzyme, substrate, inducer | 0 | ||
| ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation | 0 | ||
| Phosphocreatine | Nutra | Target, ligand | 12 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 |
Transcripts for CKB Gene
mRNA/cDNA for CKB Gene
- (2) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (1026) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000348956 1709 bps (ENST00000348956.6)
- ENST00000554989 625 bps (ENST00000554989.1)
- ENST00000554282 735 bps (ENST00000554282.5)
- ENST00000553528 1170 bps (ENST00000553528.5)
- ENST00000553652 1239 bps (ENST00000553652.5)
CRISPR Products
-
OriGene CRISPR knockouts for CKB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CKB
- genomics-online: gRNA clones - Search results for available CKB gene related products
- Applied Biological Materials (abm): CRISPR Clones for CKB - Now 50% OFF >
- * CKB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CKB CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CKB
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CKB
- Browse OriGene Inhibitory RNA Products For CKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CKB
- genomics-online: shRNA clones - Search results for available CKB gene related products
Clone Products
- Applied Biological Materials (abm): Clones for CKB - Now 50% OFF >
- * CKB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CKB tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
-
- MG205953
- MR205953
- MR205953L1
- MR205953L1V
- MR205953L2
- MR205953L2V
- MR205953L3
- MR205953L3V
- MR205953L4
- MR205953L4V
- RC203669
- RC203669L1
- RC203669L1V
- RC203669L2
- RC203669L2V
- RC203669L3
- RC203669L3V
- RC203669L4
- RC203669L4V
- RG203669
- RR210613
- RR210613L1
- RR210613L1V
- RR210613L2
- RR210613L2V
- RR210613L3
- RR210613L3V
- RR210613L4
- RR210613L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CKB
- Addgene plasmids for CKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CKB
- genomics-online: cdna clones - Search results for available CKB gene related products
- orf clones - Search results for available CKB gene related products
| 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: | - | - | - |
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CKB Gene:
CKBSOURCE GeneReport for Unigene cluster for CKB Gene:
Hs.173724Evidence 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)
Primer Products
-
OriGene qPCR primer pairs for CKB
-
OriGene qPCR primer pairs and template standards for CKB
- genomics-online: primer clones - Search results for available CKB gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CKB 35 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CKB 35 34 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | CKB 35 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| rat (Rattus norvegicus) |
Mammalia | Ckb 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ckb 17 35 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CKB 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CKB 35 34 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ckb 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ckba 35 |
|
OneToMany | |
| ckbb 35 34 |
|
OneToMany | |||
| -- 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.1737 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG5144 35 36 |
|
ManyToMany | |
| CG4546 35 36 |
|
ManyToMany | |||
| Argk 35 36 |
|
ManyToMany | |||
| CG30274 35 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | ZC434.8 35 36 |
|
ManyToMany | |
| F44G3.2 35 36 |
|
ManyToMany | |||
| F46H5.3 35 |
|
ManyToMany | |||
| W10C8.5 35 36 |
|
ManyToMany | |||
| F11G11.13 35 |
|
ManyToMany | |||
| F32B5.1 35 36 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.6164 35 |
|
ManyToMany | |
| -- 35 |
|
ManyToMany | |||
| Cin.2638 34 |
|
||||
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2638 34 |
|
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CKB: view image
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
Variants for CKB Gene
| SNP ID | Clin | Chr 14 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000928715 | -- | 103,524,166(-) | A/G | upstream_transcript_variant | |
| rs1001043594 | -- | 103,524,228(-) | C/G | upstream_transcript_variant | |
| rs1001144563 | -- | 103,523,937(-) | G/A | upstream_transcript_variant | |
| rs1001962775 | -- | 103,523,472(-) | G/A | upstream_transcript_variant | |
| rs1002224019 | -- | 103,521,710(-) | G/C | intron_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CKB Gene
Disorders for CKB Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| prostate rhabdomyosarcoma |
|
|
| subendocardial myocardial infarction |
|
|
| dressler's syndrome |
|
|
| macular telangiectasia type 2 |
|
|
| neonatal hypoxic and ischemic brain injury |
|
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
No data available for UniProtKB/Swiss-Prot and Genatlas for CKB Gene
Publications for CKB Gene
- 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 58
- 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 45 58
- 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 58
- Reduced creatine kinase B activity in multiple sclerosis normal appearing white matter. (PMID: 20520825) Steen C … De Keyser J (PloS one 2010) 3 23 58
- 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 58
ExternalLinks
Products for CKB Gene
- Custom Antibody ServicesOriGene Antibodies for CKB
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CKB
- Search Origene for MassSpec and Protein Over-expression Lysates for CKB
- Origene Custom Protein Services for CKB
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CKB
- Browse OriGene Inhibitory RNA Products For CKB
- OriGene qPCR primer pairs for CKB
- OriGene qPCR primer pairs and template standards for CKB
- OriGene CRISPR knockouts for CKB
- MG205953
- MR205953
- MR205953L1
- MR205953L1V
- MR205953L2
- MR205953L2V
- MR205953L3
- MR205953L3V
- MR205953L4
- MR205953L4V
- RC203669
- RC203669L1
- RC203669L1V
- RC203669L2
- RC203669L2V
- RC203669L3
- RC203669L3V
- RC203669L4
- RC203669L4V
- RG203669
- RR210613
- RR210613L1
- RR210613L1V
- RR210613L2
- RR210613L2V
- RR210613L3
- RR210613L3V
- RR210613L4
- RR210613L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CKB
- Sino Biological Human cDNA Clone for CKB
- Sino Biological Recombinant Proteins for CKB
- Sino Biological Cell Lysates for CKB
- Sino Biological Antibodies for CKB
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CKB
- Novus Biologicals proteins and lysates for CKB
- Novus Biologicals ELISA Kits for CKB
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CKB
- Abcam proteins for CKB
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- antibodies-online: Search results for 229 available CKB Antibodies ranked by validation data
- Compare Top CKB Antibodies
- antibodies-online: Search results for 53 available CKB Elisa Kits ranked by validation data
- Compare Top CKB Elisa Kits
- antibodies-online: Search results for 33 available CKB Proteins ranked by validation data
- Compare Top CKB Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for CKB
- Search Santa Cruz Biotechnology (SCBT) for CKB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CKB
- Search for CKB Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for CKB
- Horizon Cell Lines for CKB
- genomics-online: cdna clones - Search results for available CKB gene related products
- orf clones - Search results for available CKB gene related products
- genomics-online: gRNA clones - Search results for available CKB gene related products
- genomics-online: primer clones - Search results for available CKB gene related products
- genomics-online: shRNA clones - Search results for available CKB gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CKB
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CKB
Sources for CKB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) UniGene
- (28) AceView
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) HGMD
- (45) GAD
- (46) BGMUT
- (47) HuGE
- (48) Atlas
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) OCA
- (69) Proteopedia
- (70) MOPED
- (71) neXtProt
- (72) Reactome
- (73) GeneGo (Thomson Reuters)
- (74) fRNAdb
- (75) DISEASES
- (76) SIMAP
- (77) GenomeRNAi
- (78) LifeMap
- (79) miRTarBase
- (80) MalaCards
- (81) Invitrogen
- (82) BitterDB
- (83) ESI-BIO
- (84) RefSeq
- (85) BioSystems
- (86) MaxQB
- (87) IUPHAR
- (88) BioGPS
- (89) Illumina
- (90) COMPARTMENTS
- (91) HOMER
- (92) PaxDb
- (93) ApexBio
- (94) Addgene
- (95) antibodies-online
- (96) CYP
- (97) NONCODE
- (98) SwitchGear Genomics
- (99) TreeFam
- (100) PathCards
- (101) GeneReviews
- (102) GeneTex
- (103) Taconic Biosciences
- (104) GTEx
- (105) ProteomicsDB
- (106) SCBT
- (107) DGIdb
- (108) ClinicalTrials
- (109) FDA Approved Drugs
- (110) RVIS
- (111) SIGNOR
- (112) diseasecard
- (113) NIH Rare Diseases
- (114) Orphanet
- (115) UMLS
- (116) GTR
- (117) Disease Ontology
- (118) Genetics Home Reference
- (119) MeSH
- (120) MedlinePlus
- (121) CDC
- (122) NINDS
- (123) NCBI Bookshelf
- (124) ClinVar
- (125) Gene Damage Index
- (126) ViGene Biosciences
- (127) HPO
- (128) UDN
- (129) VISTA
- (130) FANTOM5
- (131) ENCODE
- (132) ProSci
- (133) Horizon
- (134) NURSA
- (135) IID
- (136) Cyagen
- (137) VectorBuilder
- (138) SNPedia
- (139) BRCA Exchange
- (140) St John's Lab
- (141) CIViC
- (142) ProteoGenix
- (143) dbSUPER
- (144) TISSUES
- (145) Gene ORGANizer
- (146) abm
- (147) CrownBio
- (148) Human Protein Atlas
- (149) GWAS Catalog
- (150) Monarch Initiative
- (151) DataMed
- (152) HumanCyc
- (153) genomics-online
- (154) UCNEbase
- (155) EPDnew
- (156) Applied Biosystems
- (157) GlyConnect
- (158) Aminode
- (159) GeneCopoeia
- (160) GPS-Prot
- (161) RNACentral
- (162) LncRNADisease
- (163) LOVD
- (164) miR2Disease
- (165) DiseaseEnhancer
- (166) Boster Bio
- (167) Biorbyt
- (168) Biocompare
- (169) Mastermind