Aliases for CHKB Gene
Aliases for CHKB Gene
External Ids for CHKB Gene
- HGNC: 1938
- Entrez Gene: 1120
- Ensembl: ENSG00000100288
- OMIM: 612395
- UniProtKB: Q9Y259
Previous HGNC Symbols for CHKB Gene
- CHKL
Previous GeneCards Identifiers for CHKB Gene
- GC22M049149
- GC22M049298
- GC22M049307
- GC22M049364
- GC22M051007
- GC22M033908
- GC22M051017
Summaries for CHKB Gene
-
Choline kinase (CK) and ethanolamine kinase (EK) catalyze the phosphorylation of choline/ethanolamine to phosphocholine/phosphoethanolamine. This is the first enzyme in the biosynthesis of phosphatidylcholine/phosphatidylethanolamine in all animal cells. The highly purified CKs from mammalian sources and their recombinant gene products have been shown to have EK activity also, indicating that both activities reside on the same protein. The choline kinase-like protein encoded by CHKL belongs to the choline/ethanolamine kinase family; however, its exact function is not known. Read-through transcripts are expressed from this locus that include exons from the downstream CPT1B locus. [provided by RefSeq, Jun 2009]
GeneCards Summary for CHKB Gene
CHKB (Choline Kinase Beta) is a Protein Coding gene. Diseases associated with CHKB include Muscular Dystrophy, Congenital, Megaconial Type and Myoblastoma. Among its related pathways are Metabolism and Phospholipase D signaling pathway. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring phosphorus-containing groups and choline kinase activity. An important paralog of this gene is CHKA.
UniProtKB/Swiss-Prot for CHKB Gene
-
Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.
Additional gene information for CHKB Gene
- Monarch Initiative
- Search for CHKB at DataMed
- Search for CHKB at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHKB Gene
Genomics for CHKB Gene
GeneHancer (GH) Regulatory Elements for CHKB Gene
Promoters and enhancers for CHKB Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH22J050581 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE | 675.5 | +18.9 | 18925 | 2.7 | HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF207 FOS | CHKB CHKB-DT CHKB-CPT1B CPT1B MAPK8IP2 | |
| GH22J050600 | Promoter | 1.7 | EPDnew Ensembl | 650.7 | +0.8 | 754 | 0.6 | ATF1 MLX ARID4B SIN3A DMAP1 ZNF2 ZNF48 SLC30A9 ZNF766 GLIS2 | CHKB MAPK8IP2 CPT1B | |
| GH22J050601 | Enhancer | 1 | ENCODE | 650.7 | +1.2 | 1168 | 0.1 | ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF48 SLC30A9 ZNF766 | CHKB MAPK8IP2 ENSG00000272940 | |
| GH22J050603 | Promoter | 0.5 | EPDnew | 650.7 | -1.7 | -1674 | 0.1 | MAPK8IP2 CHKB GC22P050611 | ||
| GH22J050626 | Promoter/Enhancer | 2.2 | EPDnew Ensembl ENCODE dbSUPER | 30.9 | -26.6 | -26568 | 2.4 | HDGF ZNF493 ARID4B SIN3A YBX1 GLI4 ZNF2 ZNF280A GLIS2 KLF7 | ARSA BRD1 ZBED4 RABL2B ENSG00000272836 TUBGCP6 PLXNB2 ALG12 CHKB LOC105373095 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CHKB on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CHKB gene promoter:
-
- PPAR-gamma2
- PPAR-gamma1
Regulatory Element Products
Genomic Locations for CHKB Gene
Genomic Locations for CHKB Gene
- chr22:50,578,949-50,601,455
- (GRCh38/hg38)
- Size:
- 22,507 bases
- Orientation:
- Minus strand
- chr22:51,017,378-51,039,884
- (GRCh37/hg19)
- Size:
- 22,507 bases
- Orientation:
- Minus strand
Genomic View for CHKB Gene
Genes around CHKB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.33 by Entrez Gene
- 22q13.33 by HGNC
- 22q13.33 by Ensembl
CHKB 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 CHKB Gene
Proteins for CHKB Gene
-
Protein details for CHKB Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y259-CHKB_HUMAN
- Recommended name:
- Choline/ethanolamine kinase
- Protein Accession:
- Q9Y259
- A0PJM6
- Q13388
Protein attributes for CHKB Gene
- Size:
- 395 amino acids
- Molecular mass:
- 45271 Da
- Quaternary structure:
-
- Homodimer, and heterodimer with CHKA.
- Miscellaneous:
-
- This protein is produced by a bicistronic gene which also produces the CPT1B protein from a non-overlapping reading frame.
- SequenceCaution:
-
- Sequence=AAB03342.2; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for CHKB Gene
Post-translational modifications for CHKB Gene
Other Protein References for CHKB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CHKB
- Novus Biologicals Antibodies for CHKB
- Invitrogen Antibodies for CHKB (AFLGC-CHKB)
- GeneTex CHKB Antibody for CHKB
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHKB
Protein Products
- R&D Systems Proteins and Enzymes for CHKB (Choline Kinase beta)
- Search Origene for MassSpec and Protein Over-expression Lysates for CHKB
- Origene Custom Protein Services for CHKB
- Search GeneTex for Proteins for CHKB
-
Abcam proteins for CHKB
Assay Products
- antibodies-online: Search results for 4 available CHKB Elisa Kits ranked by validation data
- Compare Top CHKB Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for CHKB Gene
Domains & Families for CHKB Gene
Gene Families for CHKB Gene
- Human Protein Atlas (HPA):
-
- Enzymes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CHKB Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CHKB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9Y259- Family:
-
- Belongs to the choline/ethanolamine kinase family.
Function for CHKB Gene
Molecular function for CHKB Gene
- UniProtKB/Swiss-Prot Function:
- Has a key role in phospholipid biosynthesis. Catalyzes the first step in phosphatidylethanolamine biosynthesis. Phosphorylates ethanolamine, and can also act on choline (in vitro). Has higher activity with ethanolamine. May not significantly contribute to in vivo phosphatidylcholine biosynthesis.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + choline = ADP + phosphocholine.
- UniProtKB/Swiss-Prot CatalyticActivity:
- ATP + ethanolamine = ADP + O-phosphoethanolamine.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=0.57 mM for choline {ECO:0000269 PubMed:19915674}; KM=2.9 mM for ethanolamine {ECO:0000269 PubMed:19915674};
Enzyme Numbers (IUBMB) for CHKB Gene
Phenotypes From GWAS Catalog for CHKB Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004103 | choline kinase activity | TAS | -- |
| GO:0004305 | ethanolamine kinase activity | TAS | -- |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016301 | kinase activity | IEA | -- |
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for CHKB Gene
- MGI mutant phenotypes for CHKB:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CHKB:
-
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Reduced mammosphere formation
- Decreased Hepatitis C Virus pseudoparticles (HCVpp; H77; genotype 1a) infection
- Decreased cella89culturea89derived Hepatitis C virus (HCVcc; Luca89Jc1) infection
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
Animal Model Products
-
Taconic Biosciences Mouse Models for CHKB
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHKB
-
CRISPR Products
-
OriGene CRISPR knockouts for CHKB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHKB
- genomics-online: gRNA clones - Search results for available CHKB gene related products
- Applied Biological Materials CRISPR for CHKB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHKB
- GenScript: Design CRISPR guide RNA sequences for CHKB
miRNA for CHKB Gene
- miRTarBase miRNAs that target CHKB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHKB
- Browse OriGene Inhibitory RNA Products For CHKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHKB
- genomics-online: shRNA clones - Search results for available CHKB gene related products
Clone Products
- Sino Biological Human cDNA Clone for CHKB
- Addgene plasmids for CHKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHKB
- genomics-online: cdna clones - Search results for available CHKB gene related products
- orf clones - Search results for available CHKB gene related products
- Applied Biological Materials Clones for CHKB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CHKB
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CHKB Gene
Localization for CHKB Gene
| Compartment | Confidence |
|---|---|
| cytosol | 4 |
| mitochondrion | 2 |
| plasma membrane | 1 |
- Cytosol (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for CHKB Gene
Pathways & Interactions for CHKB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Glycerophospholipid biosynthesis |
.01
|
|
| 2 | Metabolism |
.37
|
|
| 3 | Phospholipase D signaling pathway | ||
| 4 | Synthesis of PC | ||
| 5 | Mitochondrial LC-Fatty Acid Beta-Oxidation | ||
Pathways by source for CHKB Gene
2 BioSystems pathways for CHKB Gene
6 Reactome pathways for CHKB Gene
3 KEGG pathways for CHKB Gene
UniProtKB/Swiss-Prot Q9Y259-CHKB_HUMAN
- Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.
Interacting Proteins for CHKB Gene
GPS-Prot Interaction Network for CHKB
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006646 | phosphatidylethanolamine biosynthetic process | TAS | -- |
| GO:0006656 | phosphatidylcholine biosynthetic process | TAS | -- |
| GO:0006657 | CDP-choline pathway | IEA | -- |
| GO:0008654 | phospholipid biosynthetic process | IEA | -- |
No data available for SIGNOR curated interactions for CHKB Gene
Drugs & Compounds for CHKB Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Choline | Approved | Nutra | Enzyme, substrate | 176 | ||
| Choline salicylate | Approved | Nutra | Enzyme, substrate | 0 | ||
| Ethanolamine | Experimental | Pharma | 0 | |||
| Phosphorylcolamine | Experimental | Pharma | 0 | |||
| ATP | Investigational | Nutra | Agonist, Activator, Full agonist, Antagonist, Potentiation, Pore Blocker | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor | 58-64-0 | |||
| phosphorylcholine |
|
3616-04-4 |
|
Drug Products
Transcripts for CHKB Gene
mRNA/cDNA for CHKB Gene
- (2) REFSEQ mRNAs :
- (12) Additional mRNA sequences :
- (50) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000406938 1638 bps (uc003bmv.4)
- ENST00000492582 2069 bps (uc062fnv.1)
- ENST00000464225 624 bps (uc062fnw.1)
- ENST00000471515 657 bps (uc062fnx.1)
- ENST00000484266 1401 bps (uc062fny.1)
CRISPR Products
-
OriGene CRISPR knockouts for CHKB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHKB
- genomics-online: gRNA clones - Search results for available CHKB gene related products
- Applied Biological Materials CRISPR for CHKB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHKB
- GenScript: Design CRISPR guide RNA sequences for CHKB
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHKB
- Browse OriGene Inhibitory RNA Products For CHKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHKB
- genomics-online: shRNA clones - Search results for available CHKB gene related products
Clone Products
- Sino Biological Human cDNA Clone for CHKB
- Addgene plasmids for CHKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHKB
- genomics-online: cdna clones - Search results for available CHKB gene related products
- orf clones - Search results for available CHKB gene related products
- Applied Biological Materials Clones for CHKB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | · | 3d | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b | · |
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| ExUns: | 13c | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d | ^ | 16a | · | 16b | · | 16c | ^ | 17a | · | 17b | · | 17c | · | 17d | · | 17e | ^ | 18a | · | 18b | · | 18c | · | 18d | ^ | 19a | · | 19b | · | 19c | ^ | 20a | · | 20b | ^ | 21a | · | 21b | ^ |
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| SP29: |
| ExUns: | 22a | · | 22b | · | 22c | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | ^ | 26a | · | 26b | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 | ^ | 33a | · | 33b | · | 33c | ^ | 34a | · | 34b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
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| SP29: |
Expression for CHKB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Eye (Sensory Organs)
-
Placenta (Extraembryonic Tissues)
-
Heart (Cardiovascular System)
This gene is overexpressed in Peripheral blood mononuclear cells (11.2).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CHKB Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CHKB Gene:
CHKBSOURCE GeneReport for Unigene cluster for CHKB Gene:
Hs.654827Evidence on tissue expression from TISSUES for CHKB Gene
- Blood(4)
- Lung(4)
- Nervous system(4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CHKB Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- face
- head
- skull
Thorax:
- heart
- heart valve
Limb:
- lower limb
General:
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for CHKB
-
OriGene qPCR primer pairs and template standards for CHKB
- genomics-online: primer clones - Search results for available CHKB gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for CHKB Gene
Orthologs for CHKB Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CHKB 34 33 |
|
OneToMany | |
| dog (Canis familiaris) |
Mammalia | CHKB 33 |
|
||
| -- 34 |
|
OneToMany | |||
| cow (Bos Taurus) |
Mammalia | CHKB 34 33 |
|
OneToMany | |
| rat (Rattus norvegicus) |
Mammalia | Chkb 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Chkb 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
OneToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | chkb 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | chkb 34 33 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007957 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG2201 34 33 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | cka-1 34 33 |
|
ManyToMany | |
| cka-2 34 |
|
ManyToMany | |||
| ckb-4 34 |
|
ManyToMany | |||
| ckb-1 34 |
|
ManyToMany | |||
| ckb-2 34 |
|
ManyToMany | |||
| ckb-3 34 |
|
ManyToMany | |||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | EKI1 34 |
|
ManyToMany | |
| CKI1 34 |
|
ManyToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G74320 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os05g0535400 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for CHKB was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- 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)
- rainbow trout (Oncorhynchus mykiss)
- 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)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for CHKB Gene
- ENSEMBL:
- Gene Tree for CHKB (if available)
- TreeFam:
- Gene Tree for CHKB (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CHKB: view image
Paralogs for CHKB Gene
Variants for CHKB Gene
| SNP ID | Clin | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1056964 | likely-benign, Congenital Muscular Dystrophy, CHKB-related | 50,579,047(-) | A/C/G/T | 3_prime_UTR_variant | |
| rs112742765 | uncertain-significance, Congenital Muscular Dystrophy, CHKB-related | 50,579,055(-) | G/A/C | 3_prime_UTR_variant | |
| rs114094125 | uncertain-significance, Congenital Muscular Dystrophy, CHKB-related | 50,582,878(-) | C/G | 5_prime_UTR_variant | |
| rs138205828 | uncertain-significance, likely-benign, benign, Congenital Muscular Dystrophy, CHKB-related, not specified, Muscular dystrophy, congenital, megaconial type | 50,582,633(-) | T/C | coding_sequence_variant, missense_variant | |
| rs140867913 | uncertain-significance, Congenital Muscular Dystrophy, CHKB-related | 50,582,307(-) | G/A | coding_sequence_variant, missense_variant |
Residual Variation Intolerance Score:
26.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.99;
20.43% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CHKB Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHKB Gene
Disorders for CHKB Gene
(27) MalaCards diseases for CHKB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| muscular dystrophy, congenital, megaconial type |
|
|
| myoblastoma |
|
|
| compartment syndrome |
|
|
| testicular torsion |
|
|
| fainting |
|
|
Search CHKB in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for CHKB
- 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 CHKB Gene
Publications for CHKB Gene
- Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PMID: 20602615) Ruaño G … Wu AH (Pharmacogenomics 2010) 3 44 58
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
- Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PMID: 18996102) Ruaño G … Hanks S (Clinica chimica acta; international journal of clinical chemistry 2009) 3 44 58
- Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). (PMID: 19404393) Miyagawa T … Tokunaga K (PloS one 2009) 3 44 58
- Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment. (PMID: 19915674) Gallego-Ortega D … Lacal JC (PloS one 2009) 3 4 58
Products for CHKB Gene
- Browse R&D Systems for Antibodies
- R&D Systems Proteins and Enzymes for CHKB (Choline Kinase beta)
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
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- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CHKB
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for CHKB
- Origene Custom Protein Services for CHKB
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CHKB
- Browse OriGene Inhibitory RNA Products For CHKB
- OriGene qPCR primer pairs for CHKB
- OriGene qPCR primer pairs and template standards for CHKB
- OriGene CRISPR knockouts for CHKB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CHKB
- GenScript: Next-day shipping of latest version cDNA ORF clones for CHKB in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CHKB
- GenScript Custom Assay Services for CHKB
- GenScript Custom overexpressing Cell Line Services for CHKB
- GenScript: Design CRISPR guide RNA sequences for CHKB
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CHKB
- Sino Biological Human cDNA Clone for CHKB
- Browse Sino Biological Recombinant Proteins
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- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- 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 CHKB
- Novus Biologicals lysates and proteins for CHKB
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for CHKB
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
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- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for CHKB
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for CHKB (AFLGC-CHKB)
- Cyagen custom Knockout/knockin (KOKI) mouse models for CHKB
- Addgene plasmids for CHKB
- antibodies-online: Search results for 35 available CHKB Antibodies ranked by validation data
- Compare Top CHKB Antibodies
- antibodies-online: Search results for 4 available CHKB Elisa Kits ranked by validation data
- Compare Top CHKB Elisa Kits
- Quality Products:
- antibodies-online: Search results for 11 available CHKB Proteins ranked by validation data
- Compare Top CHKB Proteins
- Quality Products:
- GeneTex CHKB Antibody for CHKB
- Search GeneTex for Proteins for CHKB
- Santa Cruz Biotechnology (SCBT) Antibodies for CHKB
- Search Santa Cruz Biotechnology (SCBT) for CHKB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CHKB
- Horizon Cell Lines for CHKB
- genomics-online: cdna clones - Search results for available CHKB gene related products
- orf clones - Search results for available CHKB gene related products
- genomics-online: gRNA clones - Search results for available CHKB gene related products
- genomics-online: primer clones - Search results for available CHKB gene related products
- genomics-online: shRNA clones - Search results for available CHKB gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CHKB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CHKB
- GeneCopoeia miRNA 3'UTR Target clone products for CHKB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHKB
Sources for CHKB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (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) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt