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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... See more...
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 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.
Additional gene information for CKB Gene
- HGNC(1991)
- Entrez Gene(1152)
- Ensembl(ENSG00000166165)
- OMIM(123280)
- UniProtKB(P12277)
- Open Targets Platform(ENSG00000166165)
- 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 , 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:
-
- 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
- G Biosciences Immunotag™ CKB Antibody
- NSJ Bioreagents CKB Antibody / Creatine kinase B
-
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
- G Biosciences Human Creatine Kinase BB/CKB/B-CK, Liquid
- 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
- antibodies-online: Show 35 available CKB Proteins ranked by validation data
- Compare Top CKB Proteins
-
Signalway 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
- InterPro:
- Blocks:
-
- ATP:guanido phosphotransferase
- ProtoNet:
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={ECO:0000255|PROSITE-ProRule:PRU10029};.
- 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: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 | -- |
Phenotypes for CKB Gene
- MGI mutant phenotypes for CKB:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CKB:
-
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- no effect
- shRNA abundance <= 50%
- Increased viability (proliferation)
- Decreased endosome-nucleus distance (endosomes clustered in the perinuclear region)
- Decreased viability
- Decreased viability in esophageal squamous lineage
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Downregulation of NFkappaB pathway
- Decreased vesicular stomatitis virus (VSV) infection
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
- Decreased 12E8 tau but not total tau protein expression and decreased ratio of 12E8/total tau protein expression
- Transferrin accumulation in small spots in the cell periphery, polarized transferrin accumulation in plasma membrane protrusions
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CKB - Select products 50% OFF >
- * CKB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CKB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CKB
-
Santa Cruz Biotechnology (SCBT) CRISPR for CKB
miRNA for CKB Gene
- miRTarBase miRNAs that target CKB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, 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
Clone Products
- Applied Biological Materials (abm): Clones for CKB - Select products 50% OFF >
- * CKB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- 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
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 |
| extracellular | 4 |
| nucleus | 4 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
| 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 | -- |
Pathways & Interactions for CKB Gene
| 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 | ||
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 | 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 |
Drug Products
- G Biosciences Human Creatine Kinase BB/CKB/B-CK, Liquid
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 :
-
- ENST00000348956 1420 nts (view in UCSC)
- ENST00000554989 625 nts (view in UCSC)
- ENST00000554282 735 nts (view in UCSC)
- ENST00000553528 1170 nts (view in UCSC)
- ENST00000553652 1239 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CKB - Select products 50% OFF >
- * CKB CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CKB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CKB
-
Santa Cruz Biotechnology (SCBT) CRISPR for CKB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, 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
Clone Products
- Applied Biological Materials (abm): Clones for CKB - Select products 50% OFF >
- * CKB as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- 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
| 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
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CKB
SOURCE 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)
- 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)
Primer Products
-
OriGene qPCR primer pairs for CKB
-
OriGene qPCR primer pairs and template standards for CKB
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 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 |
|
- 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
(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
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 |
| 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 |
|---|---|---|
| macular telangiectasia type 2 |
|
|
| neonatal hypoxic and ischemic brain injury |
|
|
| subendocardial myocardial infarction |
|
|
| cardiac arrest |
|
|
| acute myocardial infarction |
|
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
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
- 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
- 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
- Reduced creatine kinase B activity in multiple sclerosis normal appearing white matter. (PMID: 20520825) Steen C … De Keyser J (PloS one 2010) 3 23
- 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
ExternalLinks
Products for CKB Gene
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Sources for CKB Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
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- (30) HomoloGene
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- (33) SGD
- (34) FlyBase
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- (44) Atlas
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- (63) OCA
- (64) Proteopedia
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- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
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- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
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- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
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- (109) Disease Ontology
- (110) Genetics Home Reference
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- (112) MedlinePlus
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- (115) NCBI Bookshelf
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- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
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- (128) SNPedia
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- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
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- (143) Applied Biosystems
- (144) GlyConnect
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- (148) RNACentral
- (149) LncRNADisease
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- (151) miR2Disease
- (152) DiseaseEnhancer
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- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
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- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
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- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB