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CHKB Gene

protein-coding   GIFtS: 61
GCID: GC22M051017

Choline Kinase Beta

(Previous name: choline kinase-like)
(Previous symbol: CHKL)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Choline Kinase Beta1 2 3     EK2 3
CHKL1 2 3 5     MDCMC2 5
CKEKB2 3 5     Choline Kinase-Like1
EKB2 3 5     Choline/Ethanolamine Kinase2
Choline Kinase-Like Protein2 3     EC 2.7.1.323
Ethanolamine Kinase Beta2 3     EC 2.7.1.823
CHETK2 3     Choline/Ethanolamine Kinase Beta3
CK2 3     Ethanolamine Kinase3
CKB2 3     

External Ids:    HGNC: 19381   Entrez Gene: 11202   Ensembl: ENSG000001002887   OMIM: 6123955   UniProtKB: Q9Y2593   

Export aliases for CHKB gene to outside databases

Previous GC identifers: GC22M049149 GC22M049298 GC22M049307 GC22M049364 GC22M051007 GC22M033908


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 distal muscular dystrophy, and muscular dystrophy, congenital, megaconial type. GO annotations related to this gene include ethanolamine kinase activity and choline kinase activity. An important paralog of this gene is CHKA.

UniProtKB/Swiss-Prot: CHKB_HUMAN, Q9Y259
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

Gene Wiki entry for CHKB Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NC_018933.2  NT_011526.8  
Regulatory elements:
   Regulatory transcription factor binding sites in the CHKB gene promoter:
         PPAR-gamma1   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCHKB promoter sequence
   Search Chromatin IP Primers for CHKB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CHKB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.33   Ensembl cytogenetic band:  22q13.33   HGNC cytogenetic band: 22q13.33

CHKB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHKB gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M051017:  view genomic region     (about GC identifiers)

Start:
51,017,378 bp from pter      End:
51,039,884 bp from pter
Size:
22,507 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CHKB_HUMAN, Q9Y259 (See protein sequence)
Recommended Name: Choline/ethanolamine kinase  
Size: 395 amino acids; 45271 Da
Subunit: 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
Sequence caution: Sequence=AAB03342.2; Type=Erroneous gene model prediction;
3 PDB 3D structures from and Proteopedia for CHKB:
2IG7 (3D)        3FEG (3D)        3LQ3 (3D)    
Secondary accessions: A0PJM6 Q13388
Alternative splicing: 2 isoforms:  Q9Y259-1   Q9Y259-2   

Explore the universe of human proteins at neXtProt for CHKB: NX_Q9Y259

Explore proteomics data for CHKB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CHKB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005189.2  
    ENSEMBL proteins: 
     ENSP00000384400  
    Reactome Protein details: Q9Y259

    CHKB Human Recombinant Protein Products:

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    Novus Biologicals CHKB Protein
    Novus Biologicals CHKB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    CHKB Antibody Products:

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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR011009 Kinase-like_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y259

    ProtoNet protein and cluster: Q9Y259

    1 Blocks protein domain: IPB002573 Choline/ethanolamine kinase

    UniProtKB/Swiss-Prot: CHKB_HUMAN, Q9Y259
    Similarity: Belongs to the choline/ethanolamine kinase family


    CHKB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CHKB_HUMAN, Q9Y259
    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
    Catalytic activity: ATP + choline = ADP + phosphocholine
    Catalytic activity: ATP + ethanolamine = ADP + O-phosphoethanolamine
    Biophysicochemical properties: Kinetic parameters: KM=0.57 mM for choline; KM=2.9 mM for ethanolamine;

         Enzyme Numbers (IUBMB): EC 2.7.1.321 EC 2.7.1.821

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004103choline kinase activity IDA19915674
    GO:0004305ethanolamine kinase activity IDA19915674
    GO:0005524ATP binding IEA--
    GO:0016772transferase activity, transferring phosphorus-containing groups ----
         
    CHKB for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Chkb):
     behavior/neurological  homeostasis/metabolism  limbs/digits/tail  muscle  nervous system 
     skeleton 

    CHKB for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CHKB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CHKB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHKB
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHKB

    miRNA
    Products:
        
    miRTarBase miRNAs that target CHKB:
    hsa-let-7b-5p (MIRT052190), hsa-mir-196b-5p (MIRT042674), hsa-mir-92a-3p (MIRT049124), hsa-mir-320a (MIRT044642), hsa-mir-346 (MIRT042718), hsa-mir-324-5p (MIRT043074), hsa-mir-744-5p (MIRT037448), hsa-mir-935 (MIRT036653), hsa-mir-1260b (MIRT052723)

    Block miRNA regulation of human, mouse, rat CHKB using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate CHKB:
    hsa-miR-146b-3p hsa-miR-4254 hsa-miR-874 hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidCHKB 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat CHKB

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for CHKB
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    GenScript: all cDNA clones in your preferred vector: CHKB (NM_005198)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHKB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHKB

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CHKB 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHKB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    peroxisome3
    cytosol2
    nucleus2
    extracellular1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    CHKB for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CHKB About    
    See pathways by source

    SuperPathContained pathways About
    1Glycerophospholipid biosynthesis
    Glycerophospholipid biosynthesis0.64
    Synthesis of PC0.00
    Phospholipid metabolism0.64
    Synthesis of PE0.00
    Glycerophospholipid metabolism0.62
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    3Mitochondrial LC-Fatty Acid Beta-Oxidation
    Fatty Acid Beta Oxidation0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for CHKB
        Fatty Acid Beta Oxidation

    2 Reactome Pathways for CHKB
        Synthesis of PE
    Synthesis of PC


    2 Kegg Pathways  (Kegg details for CHKB):
        Glycerophospholipid metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: CHKB_HUMAN, Q9Y259
    Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from
    ethanolamine: step 1/3


    CHKB for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CHKB
    Interactions:

        Search GeneGlobe Interaction Network for CHKB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for CHKB (Q9Y2593 ENSP000003844004) via UniProtKB, MINT, STRING, and/or I2D (see all 82) (see top 5)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206286Q8N1B43I2D: score=1 
    ENSG00000224455Q8N1B43I2D: score=1 
    ENSG00000225590Q8N1B43I2D: score=1 
    ENSG00000228425Q8N1B43I2D: score=1 
    ENSG00000236014Q8N1B43I2D: score=1 
    VPS52Q8N1B43I2D: score=1 
    HIST1H2BCP628073I2D: score=2 
    HIST1H2BEP628073I2D: score=2 
    HIST1H2BFP628073I2D: score=2 
    HIST1H2BGP628073I2D: score=2 
    HIST1H2BIP628073I2D: score=2 
    NAP1L4Q997333, ENSP000003699154I2D: score=4 STRING: ENSP00000369915
    ARFGAP1Q8N6T33, ENSP000003146154I2D: score=1 STRING: ENSP00000314615
    ARL1P406163, ENSP000002616364I2D: score=1 STRING: ENSP00000261636
    MRE11AP499593, ENSP000003258634I2D: score=1 STRING: ENSP00000325863
    PLD1Q133933, ENSP000003427934I2D: score=1 STRING: ENSP00000342793
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    GSK3BP498413I2D: score=4 
    HIST2H2BFQ5QNW63I2D: score=4 
    HIST1H2BHQ930793I2D: score=2 
    SRPK2P783623I2D: score=2 
    AADATQ8N5Z03I2D: score=1 
    ABATP804043I2D: score=1 
    ACAA1P091103I2D: score=1 
    ATP6V1B2P212813I2D: score=1 
    ATP6V1E1P365433I2D: score=1 
    ATP8A1Q9Y2Q03I2D: score=1 
    CBSP355203I2D: score=1 
    DNAJA1P316893I2D: score=1 
    EEF1GP266413I2D: score=1 
    EIF2B5Q131443I2D: score=1 
    FAM96BQ9Y3D03I2D: score=1 
    FZR1Q9UM113I2D: score=1 
    GMPPBQ9Y5P63I2D: score=1 
    GRTP1Q5TC633I2D: score=1 
    HLTFQ145273I2D: score=1 
    IP6K3Q96PC23I2D: score=1 
    METTL1Q9UBP63I2D: score=1 
    MMS19Q96T763I2D: score=1 
    MYO5BQ9ULV03I2D: score=1 
    PEMTQ9UBM13I2D: score=1 
    PFDN5Q994713I2D: score=1 
    PRPF8Q6P2Q93I2D: score=1 
    PSMD3O432423I2D: score=1 
    RAB6AP203403I2D: score=1 
    RAB6BQ9NRW13I2D: score=1 
    RRM2P313503I2D: score=1 
    SACM1LQ9NTJ53I2D: score=1 
    TADA2AO754783I2D: score=1 
    UBCP0CG483I2D: score=1 
    YME1L1Q96TA23I2D: score=1 
    ZNF622Q969S33I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006644phospholipid metabolic process TAS--
    GO:0006646phosphatidylethanolamine biosynthetic process TAS--
    GO:0006656phosphatidylcholine biosynthetic process TAS--
    GO:0006657CDP-choline pathway IDA19915674
    GO:0044281small molecule metabolic process TAS--

    CHKB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CHKB

    6 HMDB Compounds for CHKB    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Choline(2-Hydroxyethyl)trimethyl ammonium (see all 19)62-49-7--
    Ethanolamine1-Amino-2-hydroxyethane (see all 28)141-43-5--
    O-PhosphoethanolaminePhosphoryethanolamine (see all 28)1071-23-4--
    PhosphorylcholineCholine phosphate (see all 5)3616-04-4--

    1 DrugBank Compound for CHKB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    CholineBilineurine (see all 7)62-49-7enzymesubstrate16371353 17236204

    Selected Novoseek inferred chemical compound relationships for CHKB gene (see all 146)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 95.3 1967 16324360 (4), 7736901 (3), 1764545 (3), 8873665 (3) (see all 99)
    cyclocreatine 75.9 17 7923134 (3), 11745437 (2), 8042860 (1), 9888469 (1) (see all 6)
    lactate 75.5 270 11108185 (3), 8557926 (3), 17650795 (3), 8358570 (2) (see all 99)
    aspartate 71.7 140 19254158 (2), 19421954 (2), 12639201 (2), 14642073 (2) (see all 99)
    alpha-hydroxybutyrate 71.2 9 2046229 (1), 9453514 (1), 10370734 (1), 18971188 (1) (see all 9)
    phosphocreatine 69.3 60 19332463 (4), 8276423 (3), 9746337 (2), 8635232 (2) (see all 30)
    alanine 50.5 62 12639201 (2), 9216454 (1), 11018813 (1), 15754570 (1) (see all 59)
    adp 41.4 27 8276423 (3), 8797846 (2), 9479037 (1), 9746337 (1) (see all 15)
    dantrolene 40.3 14 14649364 (3), 14719706 (3), 15717469 (2), 7486044 (2) (see all 5)
    atp 40.3 98 10387096 (4), 19332463 (4), 9764442 (3), 15647364 (3) (see all 52)



    CHKB for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CHKB gene (2 alternative transcripts): 
    NM_005198.4  NM_152253.1  

    Unigene Cluster for CHKB:

    Choline kinase beta
    Hs.654827  [show with all ESTs]
    Unigene Representative Sequence: NM_005198
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406938(uc003bmv.3) ENST00000492582(uc003bmt.2) ENST00000464225
    ENST00000471515 ENST00000484266 ENST00000481673 ENST00000479003 ENST00000468532
    ENST00000489453 ENST00000476289 ENST00000463053 ENST00000465842
    miRNA
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    Block miRNA regulation of human, mouse, rat CHKB using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate CHKB:
    hsa-miR-146b-3p hsa-miR-4254 hsa-miR-874 hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidCHKB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CHKB
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CHKB (NM_005198)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CHKB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CHKB
    Primer
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    OriGene qPCR primer pairs and template standards for CHKB
    OriGene qSTAR qPCR primer pairs in human, mouse for CHKB
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      QuantiTect SYBR Green Assays in human, mouse, rat CHKB
      QuantiFast Probe-based Assays in human, mouse, rat CHKB

    Additional mRNA sequence: 

    AB029886.1 AK314324.1 AL096780.1 AL096781.1 BC024286.1 BC050443.1 BC082263.1 BC101488.1 
    BC113521.1 BC141974.1 BC150582.1 CR456419.1 

    23 DOTS entries:

    DT.100838063  DT.444144  DT.100866086  DT.95264267  DT.102835430  DT.95239121  DT.91825945  DT.97770629 
    DT.97791231  DT.100835220  DT.95073240  DT.97846203  DT.100866077  DT.100662643  DT.100767679  DT.120661725 
    DT.120661774  DT.87003770  DT.91978213  DT.120661788  DT.100653056  DT.100703190  DT.100866072 

    Selected AceView cDNA sequences (see all 50):

    AW163316 CD364730 BM702182 BI494180 AA761255 BX331471 BM695582 BX355944 
    BX346470 W72661 AA149411 T53978 BE247467 AW771894 AA743869 AI268288 
    BU726575 AA465477 W73539 BM923362 W76418 AW612501 BX391233 AW157517 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CHKB (see all 29)    About this scheme

    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 ·
    SP1:                                                        -     -           -           -                                                     -     -     -   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                          -           -                 -     -           -           -                                                                     

    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 ^
    SP1:  -     -     -     -     -                                                     -     -                                                           -         
    SP2:                    -     -                                                     -     -                                                           -         
    SP3:                    -     -                                                     -     -                                                           -         
    SP4:                                                                                -     -                                                           -         
    SP5:                                                                                                                                                            

    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:                    -     -           -                             -                                               -     -               
    SP3:                    -     -           -                             -                                                                     
    SP4:                    -     -           -                             -                                               -     -               
    SP5:                                                                                                                                          


    ECgene alternative splicing isoforms for CHKB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    CHKB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCTGGCAGGC
    CHKB Expression
    About this image


    CHKB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)
             Lens
     
     Heart (Cardiovascular System)
     
     Placenta (Extraembryonic Tissues)
    CHKB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CHKB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654827
        Custom PCR Arrays for CHKB
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat CHKB
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHKB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CHKB gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Chkb1 , 5 choline kinase beta1, 5 85.11(n)1
    86.04(a)1
      15 (44.89 cM)5
    126511  NM_007692.61  NP_031718.11 
     894164055 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    65(a)
    1 → many
    AAWZ02039146(163-9342)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia chkb1 choline kinase beta 60.59(n)
    65.24(a)
      100145186  NM_001126676.1  NP_001120148.1 
    zebrafish
    (Danio rerio)
    Actinopterygii chkb1 choline kinase beta 62.95(n)
    63.14(a)
      563589  NM_001100012.2  NP_001093482.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG22011 CG2201 49.46(n)
    39.73(a)
      35417  NM_165387.3  NP_724349.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cka-11 cka-1 49.95(n)
    43.32(a)
      177807  NM_001136377.2  NP_001129849.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes EKI16
    CKI16
    Ethanolamine kinase, primarily responsible for pho...
    Choline kinase, catalyzing the first step in phosp...
    16(a)
    16(a)
    many ↔ many
    many ↔ many
    IV(751631-753235) YDR147W
    XII(408445-410193) YLR133W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G743201 AT1G74320 46.89(n)
    36.34(a)
      843772  NM_106092.3  NP_177572.2 
    rice
    (Oryza sativa)
    Liliopsida Os05g05354001 Os05g0535400 50(n)
    34.62(a)
      9268113  NM_001187573.1  NP_001174502.1 


    ENSEMBL Gene Tree for CHKB (if available)
    TreeFam Gene Tree for CHKB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CHKB gene
    CHKA2  ETNK12  CHKB-CPT1B2  ETNK22  
    2 SIMAP similar genes for CHKB using alignment to 1 protein entry:     CHKB_HUMAN:
    CHKA    ETNK2

    CHKB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for CHKB (see all 41)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1317541,2
    C--33913778(-) TTTTT-/TTTT  
      
    /TTTTT
    GAGAC
    1 -- us2k10--------
    rs9639801,2
    C,F,H--34965120(-) CAATGT/GGAGGT 1 -- us2k112Minor allele frequency- G:0.28MN NA WA CSA 437
    rs1143718031,2
    C,F--34965176(+) CCCCAG/AGCTAG 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs798300341,2
    C--34965362(+) AAATCG/TGAGTC 1 -- us2k10--------
    rs1317551,2
    C,F,A,H--34965522(-) accacA/Gcccgg 1 -- us2k17Minor allele frequency- G:0.48NS NA WA EA 484
    rs60100151,2
    C,A--34965524(+) GGGCGT/CGGTGG 1 -- us2k15Minor allele frequency- C:0.13WA CSA NA EA 244
    rs60100161,2
    C,A--34965572(+) CGGGCG/AGATCA 1 -- us2k1 tfbs32Minor allele frequency- A:0.33WA CSA 3
    rs1812941861,2
    --34965646(+) ACAAAA/GATTAG 1 -- us2k10--------
    rs22836741,2
    C,F--34965703(+) GAGGCG/ATGACA 1 -- us2k16Minor allele frequency- A:0.16NA WA CSA EA 363
    rs1859771271,2
    C--34965760(+) CTGAGC/G/TGACAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CHKB (51017378 - 51039884 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CHKB (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv914559CNV Loss21882294
    nsv915495CNV Loss21882294
    nsv914561CNV Loss21882294
    dgv5062n71CNV Loss21882294
    dgv5068n71CNV Loss21882294
    nsv914525CNV Loss21882294
    nsv914543CNV Loss21882294
    nsv834239CNV Loss17160897
    dgv5066n71CNV Loss21882294
    nsv471224CNV Loss18288195

    Human Gene Mutation Database (HGMD): CHKB
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CHKB
    DNA2.0 Custom Variant and Variant Library Synthesis for CHKB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612395   
    OMIM disorders: 602541  
    Selected diseases for CHKB (see all 172):    
    About MalaCards
    distal muscular dystrophy    muscular dystrophy, congenital, megaconial type    cytoplasmic body myopathy    japanese spotted fever
    cardiac rupture    newborn respiratory distress syndrome    chkb-related muscle diseases    spermatic cord torsion
    compartment syndrome    adult dermatomyositis    acute myocardial infarction    creatine phosphokinase, elevated serum
    gas gangrene    proximal spinal muscular atrophy    myositis    neuroleptic malignant syndrome
    myoblastoma    pericardial effusion    psychotic disorder    viral pneumonia

    1 disease from the University of Copenhagen DISEASES database for CHKB:
    Sleep disorder

    CHKB for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for CHKB gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rhabdomyolysis 84 82 19534642 (4), 20014178 (4), 1952045 (2), 14655521 (2) (see all 46)
    acute myocardial infarction 78.9 102 11253625 (3), 7666339 (3), 8164150 (2), 8937582 (2) (see all 79)
    creatine phosphokinase, elevated serum 78.6 4 9141928 (1), 16502425 (1), 11993531 (1), 11532557 (1)
    myopathy 76.3 60 15367725 (3), 19078624 (2), 17327290 (2), 19833260 (2) (see all 48)
    polymyositis 71.8 18 8480146 (2), 2088650 (2), 9745852 (1), 7914924 (1) (see all 13)
    myositis 71.7 30 7474450 (3), 8480146 (2), 17763431 (2), 11317279 (1) (see all 22)
    myocardial infarction 70.7 87 18328834 (3), 8557926 (3), 19050596 (2), 9115102 (2) (see all 61)
    muscular dystrophy duchenne 65.3 8 10825803 (2), 9829280 (1), 11269976 (1), 11532557 (1) (see all 7)
    infarct 64.1 94 16645412 (7), 19050596 (4), 15546288 (4), 9453514 (4) (see all 47)
    neuroleptic malignant syndrome 60.2 6 8101383 (1), 16453254 (1), 16145285 (1), 19952877 (1) (see all 6)

    Genetic Association Database (GAD): CHKB
    Human Genome Epidemiology (HuGE) Navigator: CHKB (7 documents)

    Export disorders for CHKB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CHKB gene, integrated from 10 sources (see all 1090):
    (articles sorted by number of sources associating them with CHKB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Physiogenomic analysis of statin-treated patients: domain-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)1, 4 RuaA+o G....Wu A.H. (Pharmacogenomics 2010)
    2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    3. Polymorphism located between CPT1B and CHKB, and HLA-DRB1*1501-DQB1*0602 haplotype confer susceptibility to CNS hypersomnias (essential hypersomnia). (PubMed id 19404393)1, 4 Miyagawa T....Tokunaga K. (PLoS ONE 2009)
    4. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)1, 4 RuaA+o G....Hanks S. ( international journal of clinical chemistry 2009)
    5. Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment. (PubMed id 19915674)1, 2 Gallego-Ortega D.... Lacal J.C. (PLoS ONE 2009)
    6. Variant between CPT1B and CHKB associated with susceptibility to narcolepsy. (PubMed id 18820697)1, 4 Miyagawa T....Tokunaga K. (Nat. Genet. 2008)
    7. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Structure and function of choline kinase isoforms in mammalian cells. (PubMed id 15003397)1, 3 Aoyama C....Ishidate K. (Prog. Lipid Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1120 HGNC: 1938 AceView: CHKB Ensembl:ENSG00000100288 euGenes: HUgn1120
    ECgene: CHKB Kegg: 1120 H-InvDB: CHKB

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CHKB Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CHKB gene:
    Search GeneIP for patents involving CHKB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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