Details for: CHKB

Gene ID: 1120

Symbol: CHKB

Ensembl ID: ENSG00000100288

Description: choline kinase beta

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.33
    Marker Score: 556
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.05
    Marker Score: 1621
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.04
    Marker Score: 16271
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.04
    Marker Score: 284
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71752
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47976
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1
    Marker Score: 1886
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30401
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2404
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.94
    Marker Score: 482
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.93
    Marker Score: 57478
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.93
    Marker Score: 438.5
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.93
    Marker Score: 34219
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.91
    Marker Score: 8653
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2717
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.9
    Marker Score: 8493
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.9
    Marker Score: 7711.5
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.89
    Marker Score: 625.5
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.87
    Marker Score: 4975
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5257
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.86
    Marker Score: 2035
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.86
    Marker Score: 308
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.84
    Marker Score: 1465
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.83
    Marker Score: 1348
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.79
    Marker Score: 246
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.75
    Marker Score: 14938
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.74
    Marker Score: 28271.5
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.74
    Marker Score: 3083
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.74
    Marker Score: 588.5
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.73
    Marker Score: 1999
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.73
    Marker Score: 294
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.73
    Marker Score: 232
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.73
    Marker Score: 376
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.73
    Marker Score: 554.5
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 0.7
    Marker Score: 1961
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7
    Marker Score: 2925
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.69
    Marker Score: 2673.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.69
    Marker Score: 222
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.67
    Marker Score: 403
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.67
    Marker Score: 610
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.67
    Marker Score: 171
  • Cell Name: taste receptor cell (CL0000209)
    Fold Change: 0.66
    Marker Score: 568
  • Cell Name: myoepithelial cell of mammary gland (CL0002324)
    Fold Change: 0.66
    Marker Score: 3228.5
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 0.64
    Marker Score: 13684
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.63
    Marker Score: 1045
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.62
    Marker Score: 397
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.61
    Marker Score: 20839
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.6
    Marker Score: 260
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.59
    Marker Score: 4537
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.58
    Marker Score: 2375
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.57
    Marker Score: 8452
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.56
    Marker Score: 272
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.56
    Marker Score: 547
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.56
    Marker Score: 277
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.55
    Marker Score: 129
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.55
    Marker Score: 336
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 436
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 0.55
    Marker Score: 194
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.55
    Marker Score: 725
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.54
    Marker Score: 5416
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.53
    Marker Score: 9465
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.52
    Marker Score: 247
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 0.52
    Marker Score: 166
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.51
    Marker Score: 338
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.51
    Marker Score: 536
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.5
    Marker Score: 388
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.5
    Marker Score: 1042
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.5
    Marker Score: 625
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.5
    Marker Score: 261
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.5
    Marker Score: 570
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.49
    Marker Score: 327
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.49
    Marker Score: 141
  • Cell Name: CD34-positive, CD38-negative hematopoietic stem cell (CL0001024)
    Fold Change: 0.49
    Marker Score: 352
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 0.49
    Marker Score: 3615
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.48
    Marker Score: 327
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.48
    Marker Score: 166
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.47
    Marker Score: 411
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.46
    Marker Score: 91
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 0.46
    Marker Score: 308
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.46
    Marker Score: 468
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 273
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.46
    Marker Score: 189
  • Cell Name: group 3 innate lymphoid cell (CL0001071)
    Fold Change: 0.45
    Marker Score: 189
  • Cell Name: respiratory epithelial cell (CL0002368)
    Fold Change: 0.45
    Marker Score: 246
  • Cell Name: lung goblet cell (CL1000143)
    Fold Change: 0.44
    Marker Score: 128
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.44
    Marker Score: 115
  • Cell Name: duct epithelial cell (CL0000068)
    Fold Change: 0.44
    Marker Score: 206
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.44
    Marker Score: 201
  • Cell Name: dendritic cell, human (CL0001056)
    Fold Change: 0.44
    Marker Score: 448
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.44
    Marker Score: 141
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.44
    Marker Score: 718.5
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.44
    Marker Score: 743
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.43
    Marker Score: 14682
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.43
    Marker Score: 173
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.42
    Marker Score: 512.5
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.42
    Marker Score: 23635
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 0.42
    Marker Score: 398
  • Cell Name: endocrine cell (CL0000163)
    Fold Change: 0.42
    Marker Score: 218
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.42
    Marker Score: 85
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.42
    Marker Score: 385.5

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Other Information

**Key characteristics:** * The CHKB gene is located on chromosome 15q26.1. * It is a single-exon gene encoding a protein of 414 amino acids. * The protein is expressed in a variety of cell types, including retinal ganglion cells, cardiac muscle myoblasts, and cerebral cortex neurons. **Pathways and functions:** * The CHKB gene is a key enzyme in the choline kinase pathway, which is responsible for the synthesis and degradation of choline. * Choline is a precursor to numerous bioactive molecules, including ethanolamine, which is involved in cell signaling and membrane trafficking. * The choline kinase pathway is important for maintaining cellular homeostasis and preventing the accumulation of toxic substances. * Dysregulation of the CHKB gene can lead to a variety of diseases, including retinal disorders, cardiac disease, and neurodevelopmental disorders. **Clinical significance:** * Mutations in the CHKB gene have been linked to a number of human diseases, including: * Retinal disorders, such as macular degeneration and retinitis pigmentosa * Cardiac disease, such as hyperlipidemia and atherosclerosis * Neurodevelopmental disorders, such as autism and schizophrenia * Inhibition of the CHKB enzyme has been shown to be a potential therapeutic strategy for these diseases.

Genular Protein ID: 2394261400

Symbol: CHKB_HUMAN

Name: Choline/ethanolamine kinase

UniProtKB Accession Codes:

Q9Y259 A0PJM6 Q13388

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 15 ChEMBL 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 2 EMBL 11 EPD 1 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 9 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 3 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 4 SABIO-RK 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 10918069

Title: Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I.

PubMed ID: 10918069

DOI: 10.1074/jbc.m006322200

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19915674

Title: Differential role of human choline kinase alpha and beta enzymes in lipid metabolism: implications in cancer onset and treatment.

PubMed ID: 19915674

DOI: 10.1371/journal.pone.0007819

PubMed ID: 21665002

Title: A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.

PubMed ID: 21665002

DOI: 10.1016/j.ajhg.2011.05.010

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22782513

Title: Congenital megaconial myopathy due to a novel defect in the choline kinase beta gene.

PubMed ID: 22782513

DOI: 10.1001/archneurol.2011.2333

PubMed ID: 24997086

Title: Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.

PubMed ID: 24997086

DOI: 10.1016/j.ejpn.2014.06.005

PubMed ID: 26067811

Title: Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

PubMed ID: 26067811

DOI: 10.1007/s10545-015-9856-2

PubMed ID: 25187204

Title: Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

PubMed ID: 25187204

DOI: 10.1002/mus.24446

PubMed ID: 26006750

Title: Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene.

PubMed ID: 26006750

DOI: 10.1016/j.braindev.2015.05.008

PubMed ID: 27138744

Title:

PubMed ID: 27138744

DOI: 10.1016/j.braindev.2016.04.009

Sequence Information:

  • Length: 395
  • Mass: 45271
  • Checksum: 18367468B22FB9CE
  • Sequence:
    • MAAEATAVAG SGAVGGCLAK DGLQQSKCPD TTPKRRRASS LSRDAERRAY QWCREYLGGA 
WRRVQPEELR VYPVSGGLSN LLFRCSLPDH LPSVGEEPRE VLLRLYGAIL QGVDSLVLES 
VMFAILAERS LGPQLYGVFP EGRLEQYIPS RPLKTQELRE PVLSAAIATK MAQFHGMEMP 
FTKEPHWLFG TMERYLKQIQ DLPPTGLPEM NLLEMYSLKD EMGNLRKLLE STPSPVVFCH 
NDIQEGNILL LSEPENADSL MLVDFEYSSY NYRGFDIGNH FCEWVYDYTH EEWPFYKARP 
TDYPTQEQQL HFIRHYLAEA KKGETLSQEE QRKLEEDLLV EVSRYALASH FFWGLWSILQ 
ASMSTIEFGY LDYAQSRFQF YFQQKGQLTS VHSSS

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.