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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHKB Gene

protein-coding GIFtS: 59
GCID: GC22M051017

choline kinase beta

(Previous name: choline kinase-like )
(Previous symbol: CHKL)

Explore 177 diseases affiliated with
CHKB via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Choline Kinase Beta¹ ² ³		EK² ³
CHKL¹ ² ³ ⁵		Choline Kinase-Like¹
CHETK¹ ² ³		MDCMC²
CKEKB² ³ ⁵		Choline/Ethanolamine Kinase²
EKB² ³ ⁵		EC 2.7.1.32³
Choline Kinase-Like Protein² ³		EC 2.7.1.82³
Ethanolamine Kinase Beta² 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CHKB:

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)

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

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011526.7

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHKB gene promoter:
PPAR-gamma1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHKB promoter sequence

Search SABiosciences Chromatin IP Primers for CHKB

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9Y259

CHKB Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005189.2

ENSEMBL proteins:

ENSP00000384400

Reactome Protein details: Q9Y259
Human Recombinant Protein Products:

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	Novus Biologicals CHKB Protein Novus Biologicals CHKB Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CHKB

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--

CHKB for ontologies About GeneDecksing

CHKB Antibody Products:

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Assay Products for CHKB:

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	Uscn ELISAs and CLIAs for CHKB

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CHKB for domains About GeneDecksing

2 InterPro domains/families:

IPR011009 Kinase-like_dom

IPR026712 Cho/Etha_kinase

Graphical View of Domain Structure for InterPro Entry Q9Y259

ProtoNet protein and cluster: Q9Y259

1 Blocks protein family: IPB002573 Choline/ethanolamine kinase

UniProtKB/Swiss-Prot: CHKB_HUMAN, Q9Y259

Similarity: Belongs to the choline/ethanolamine kinase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

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

miRNA Products:		OriGene 3'-UTR Clone: CHKB Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHKB
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate CHKB:
		hsa-miR-146b-3p hsa-miR-4254 hsa-miR-874 hsa-miR-4308
		SwitchGear 3'UTR luciferase reporter plasmid: CHKB 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CHKB (see all 6) Browse OriGene siRNA
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Gene Editing
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DNA2.0 Custom Protein Engineering Service for CHKB

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHKB

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004103	choline kinase activity	IDA	19915674
GO:0004305	ethanolamine kinase activity	IDA	19915674
GO:0005524	ATP binding	IEA	--
GO:0016772	transferase activity, transferring phosphorus-containing groups	--	--

CHKB for ontologies About GeneDecksing

Animal Models:
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

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Glycerophospholipid biosynthesis

	Glycerophospholipid biosynthesis	1.00			Glycerophospholipid metabolism	0.54
	Phospholipid metabolism	0.64

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Synthesis of PE

Synthesis of PE

1.00

Synthesis of PC

0.30

Fatty Acid Beta Oxidation

Fatty Acid Beta Oxidation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 BioSystems Pathway for CHKB

Fatty Acid Beta Oxidation

5/6 Reactome Pathways for CHKB (see all 6)

	Glycerophospholipid biosynthesis
	Metabolism
	Phospholipid metabolism
	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

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CHKB

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

5/52 Interacting proteins for CHKB (Q9Y259³ ENSP00000384400⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 52)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H2BC	P62807³	I2D: score=2
HIST1H2BE	P62807³	I2D: score=2
HIST1H2BF	P62807³	I2D: score=2
HIST1H2BG	P62807³	I2D: score=2
HIST1H2BI	P62807³	I2D: score=2

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006644	phospholipid metabolic process	TAS	--
GO:0006646	phosphatidylethanolamine biosynthetic process	TAS	--
GO:0006656	phosphatidylcholine biosynthetic process	TAS	--
GO:0006657	CDP-choline pathway	IDA	19915674
GO:0044281	small molecule metabolic process	TAS	--

CHKB for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CHKB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CHKB

6 HMDB Compounds for CHKB About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Choline	(2-Hydroxyethyl)trimethyl ammonium (see all 19)	62-49-7	--
Ethanolamine	1-Amino-2-hydroxyethane (see all 28)	141-43-5	--
O-Phosphoethanolamine	Phosphoryethanolamine (see all 28)	1071-23-4	--
Phosphorylcholine	Choline phosphate (see all 5)	3616-04-4	--

1 DrugBank Compound for CHKB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Choline	Bilineurine (see all 7)	62-49-7	enzyme	substrate	16371353 17236204

10/146 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about CHKB

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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 Products:		OriGene 3'-UTR Clone: CHKB Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHKB
		4 QIAGEN miScript miRNA Assays for microRNAs that regulate CHKB:
		hsa-miR-146b-3p hsa-miR-4254 hsa-miR-874 hsa-miR-4308
		SwitchGear 3'UTR luciferase reporter plasmid: CHKB 3' UTR sequence

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Additional cDNA 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

24/50 AceView cDNA sequences (see all 50):

AW163316 CD364730 BX355944 BM702182 BX331471 BI494180 AA761255 BM695582

BX346470 AI268288 BE247467 AW771894 T53978 W72661 AA743869 AA149411

BM923362 W76418 BU726575 AA465477 W73539 AW612501 BE769935 BE540418

GeneLoc Exon Structure

5/29 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CHKB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCTGGCAGGC

About this image
See CHKB Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHKB

SOURCE GeneReport for Unigene cluster: Hs.654827

SABiosciences Custom PCR Arrays for CHKB

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In Situ
Assay Products:

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

This gene was present in the common ancestor of eukaryotes.

Orthologs for CHKB gene from 6/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	CHKB⁶	--	65(a)	1 → many	AAWZ02039146(163-9342)
zebrafish (Danio rerio)	Actinopterygii	chkb¹	choline kinase beta	63.82(n) 64.9(a)		563589 NM_001100012.2 NP_001093482.1
fruit fly (Drosophila melanogaster)	Insecta	CG2201¹	CG2201	50.86(n) 42.3(a)		35417 NM_165387.2 NP_724349.1
worm (Caenorhabditis elegans)	Secernentea	cka-2¹	Protein CKA-2	49.95(n) 46.36(a)		180703 NM_001029309.3 NP_001024480.1
thale cress (Arabidopsis thaliana)	eudicotyledons	CK1¹	choline kinase 1	47.03(n) 37.22(a)		843500 NM_105828.3 NP_177315.1
rice (Oryza sativa)	Liliopsida	Os01g0183000¹	hypothetical protein	49.41(n) 36.69(a)		4325332 NM_001048758.2 NP_001042223.2

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)
About This Section

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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs3810647^1,2	C,	--	33908166(+)	`CGGGCG/AGCATC`	7	--	us2k¹		4		EA NA	1530
rs41281533^1,2		--	33908401(+)	`AGAAGA/CAGCTT`	7	--	us2k¹		1		WA	118
rs112742765^1,2	C	--	33908483(+)	`AGGCCA/C/GGTCTC`	7	--	us2k¹		1		CSA	1
rs74605815^1,2	C,F,	--	33909563(+)	`GGCCTG/ATTTTC`	6	--	us2k¹		1		WA	118
rs6010012^1,2	C,F,A,	--	33909941(+)	`AGCAAC/ATACTG`	4	--	us2k¹		4		WA CSA	124
rs79830034^1,2		--	33913358(+)	`AAATCG/TGAGTC`	1	--	us2k¹		0	--	--	--	--
rs9628218^1,2	C,F,	--	33913924(+)	`cctgtC/Ttttac`	1	--	us2k¹		1		WA	118
rs131758^1,2	C,F,O,A,H,	--	51017082(-)	`TCTAAT/AGCCAC`	9	--	ds500¹ ut5¹ int¹ us2k¹ tfbs³		17		MN NS EA NA WA CSA	1390
rs187258702^1,2		--	51017174(+)	`CATCCC/TCACCT`	9	--	ds500¹ us2k¹ int¹		0	--	--	--	--
rs200591144^1,2		--	51017206(+)	`TCACT-/CTCCTCCT`	9	--	ds500¹ us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CHKB (51017378 - 51039884 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for CHKB
2 CNVs: 4139 5192
Human Gene Mutation Database (HGMD): CHKB

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(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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CHKB for disorders           About GeneDecksing

OMIM gene information: 612395    OMIM disorders: --

20/177 diseases for CHKB (see all 177):    About MalaCards

creatine phosphokinase, elevated serum spinal-bulbar muscular atrophy proximal spinal muscular atrophy limb-girdle muscular dystrophy type 2i

limb-girdle muscular dystrophy creatine phosphokinase polymorphous low-grade adenocarcinoma spinal muscular atrophy

maple syrup urine disease inclusion body myositis muscular dystrophy spermatic cord torsion

hypokalemic periodic paralysis cytoplasmic body myopathy toxic epidermal necrolysis newborn respiratory distress syndrome

middle ear cholesteatoma distal muscular dystrophy subacute sclerosing panencephalitis pericardial effusion

10/97 Novoseek 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)

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 9 sources (see all 1086):
(articles sorted by number of sources associating them with CHKB)

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world of online information

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. (2009)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
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. (2004)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Structure and function of choline kinase isoforms in mammalian cells. (PubMed id 15003397)^{1, 3} Aoyama C....Ishidate K. (2004)
Novel expression of equivocal messages containing both regions of choline/ethanolamine kinase and muscle type carnitine palmitoyltransferase I. (PubMed id 10918069)^{1, 2} Yamazaki N.... Terada H. (2000)
TCRA, P2RY11, and CPT1B/CHKB associations in Chinese n arcolepsy. (PubMed id 22177342)¹ Han F....Mignot E. (2012)
A congenital muscular dystrophy with mitochondrial st ructural abnormalities caused by defective de novo phosphatidylcholine biosynth esis. (PubMed id 21665002)¹ Mitsuhashi S....Nishino I. (2011)
Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)¹ RuaA+o G....Wu A.H. (2010)
Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)¹ Bailey S.D....Anand S. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CHKB	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CHKB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CHKB gene:
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GeneCards and IP:
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Limb girdle
LGMD2I
MIYOSHI MYOPATHY
MYOPATHY, CONGENITAL
Pericardial Effusion
Acute myocardial infarction
dysplasia
Rhabdomyolysis
Colitis Ulcerative
Pregnancy Tubal
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HYPOTHYROIDISM PRIMARY
Schizophrenia
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Cholesteatoma Middle Ear
Myositis
Myotonic Dystrophy
Hashimotos Thyroiditis
CREATINE PHOSPHOKINASE, ELEVATED SERUM
DISTAL MUSCULAR DYSTROPHY
Dilated Cardiomyopathy
Polymyositis
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CHKB Gene

choline kinase beta

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