CHKB Gene (Protein Coding)

Choline Kinase Beta

GC22M050578
GIFtS:
47
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, ... See more...

Aliases for CHKB Gene

Aliases for CHKB Gene

  • Choline Kinase Beta 2 3 4 5
  • Choline Kinase-Like Protein 3 4
  • Choline/Ethanolamine Kinase 3 4
  • Ethanolamine Kinase Beta 3 4
  • CHETK 3 4
  • CKEKB 3 4
  • CHKL 3 4
  • CKB 3 4
  • EKB 3 4
  • CK 3 4
  • EK 3 4
  • Choline/Ethanolamine Kinase Beta 4
  • Ethanolamine Kinase 4
  • Choline Kinase-Like 2
  • EC 2.7.1.32 4
  • EC 2.7.1.82 4
  • MDCMC 3

External Ids for CHKB Gene

Previous HGNC Symbols for CHKB Gene

  • CHKL

Previous GeneCards Identifiers for CHKB Gene

  • GC22M049149
  • GC22M049298
  • GC22M049307
  • GC22M049364
  • GC22M051007
  • GC22M033908
  • GC22M051017

Summaries for CHKB Gene

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 Muscular Dystrophy, Congenital, Megaconial Type and Proximal Myopathy With Focal Depletion Of Mitochondria. Among its related pathways are Mitochondrial LC-Fatty Acid Beta-Oxidation and Glycerophospholipid biosynthesis. 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 Summary for CHKB Gene

  • Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis.

Gene Wiki entry for CHKB Gene

Additional gene information for CHKB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification 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 CraniofacialAtlas 525.5 +18.8 18767 3 HNRNPK SIN3A NRF1 USF1 POLR2G SP1 PHF8 ZFX POLR2A ZBTB10 CHKB CHKB-DT CHKB-CPT1B CPT1B MAPK8IP2
GH22J050601 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 513.5 +0.7 654 1.6 ZBTB40 SIN3A REST ZBTB11 GABPA AFF1 ZBTB26 TARDBP SAP30 ZBTB25 CHKB MAPK8IP2 CPT1B LMF2
GH22J050603 Promoter 0.4 EPDnew 500.7 -1.7 -1674 0.1 EZH2 MAPK8IP2 CHKB NONHSAG034262.2
GH22J050523 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 23 +71.8 71751 12.1 HNRNPK ZBTB40 EP300 CTCF SIN3A NRF1 POLR2G USF1 SP1 NCOR1 SCO2 TYMP ODF3B ALG12 LMF2 PLXNB2 ENSG00000273192 ENSG00000273137 BRD1 CHKB
GH22J050626 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.2 -26.7 -26658 2.6 ZBTB40 CTCF SIN3A NRF1 USF1 POLR2G SP1 BCLAF1 PHB2 ZBTB5 ARSA lnc-MAPK8IP2-2 BRD1 RABL2B TUBGCP6 ENSG00000272836 ENSG00000260613 ZBED4 PLXNB2 ALG12
- 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

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CHKB

Top Transcription factor binding sites by QIAGEN in the CHKB gene promoter:
  • PPAR-gamma1
  • PPAR-gamma2

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:
CHKB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CHKB Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CHKB Gene

Proteins for CHKB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CHKB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y259-CHKB_HUMAN
    Recommended name:
    Choline/ethanolamine kinase
    Protein Accession:
    Q9Y259
    Secondary Accessions:
    • 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};

    Three dimensional structures from OCA and Proteopedia for CHKB Gene

    Alternative splice isoforms for CHKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CHKB Gene

Protein Expression for CHKB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CHKB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CHKB Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Blocks:
  • Choline/ethanolamine kinase
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CHKB Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ95084, Homo sapiens choline kinase-like (CHKL), transcript variant 1,mRNA (A0PJM6_HUMAN)
  • choline/ethanolamine kinase beta (CHKB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y259

UniProtKB/Swiss-Prot:

CHKB_HUMAN :
  • Belongs to the choline/ethanolamine kinase family.
Family:
  • Belongs to the choline/ethanolamine kinase family.
genes like me logo Genes that share domains with CHKB: view

Function for CHKB Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for CHKB Gene

UniProtKB/Swiss-Prot Function:
Has a key role in phospholipid metabolism, and catalyzes the first step of phosphatidylethanolamine and phosphatidylcholine biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + choline = ADP + H(+) + phosphocholine; Xref=Rhea:RHEA:12837, ChEBI:CHEBI:15354, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:295975, ChEBI:CHEBI:456216; EC=2.7.1.32; Evidence={ECO:0000269 PubMed:19915674, ECO:0000269 PubMed:21665002}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:12838; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + ethanolamine = ADP + H(+) + phosphoethanolamine; Xref=Rhea:RHEA:13069, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57603, ChEBI:CHEBI:58190, ChEBI:CHEBI:456216; EC=2.7.1.82; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:13070; Evidence=. ;.
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

Gene Ontology (GO) - Molecular Function for CHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004103 choline kinase activity IDA 19915674
GO:0004305 ethanolamine kinase activity IDA,IEA 19915674
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with CHKB: view
genes like me logo Genes that share phenotypes with CHKB: view

Human Phenotype Ontology for CHKB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for CHKB

CRISPR Products

miRNA for CHKB Gene

miRTarBase miRNAs that target CHKB

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHKB

Clone Products

  • Addgene plasmids for CHKB

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CHKB Gene

Localization for CHKB Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CHKB gene
Compartment Confidence
cytosol 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CHKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CHKB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for CHKB Gene

Pathways & Interactions for CHKB Gene

genes like me logo Genes that share pathways with CHKB: view

UniProtKB/Swiss-Prot Q9Y259-CHKB_HUMAN

  • Pathway: Phospholipid metabolism; phosphatidylethanolamine biosynthesis; phosphatidylethanolamine from ethanolamine: step 1/3.

Gene Ontology (GO) - Biological Process for CHKB Gene

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:0007517 muscle organ development IEA --
genes like me logo Genes that share ontologies with CHKB: view

No data available for SIGNOR curated interactions for CHKB Gene

Drugs & Compounds for CHKB Gene

Products:

  1. Drug

(94) Drugs for CHKB Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Choline Approved Nutra Enzyme, substrate 222
Choline salicylate Approved Nutra Enzyme, substrate 0
Ethanolamine Experimental Pharma 0
Phosphorylcolamine Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(57) Additional Compounds for CHKB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
 Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 58-64-0
phosphorylcholine
  • Choline phosphate
  • CHOP
  • N-Trimethyl-2-aminoethylphosphonate
  • O-Phosphocholine
  • Phosphoryl-choline
 3616-04-4
genes like me logo Genes that share compounds with CHKB: view

Transcripts for CHKB Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CHKB Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CHKB

Clone Products

  • Addgene plasmids for CHKB

Alternative Splicing Database (ASD) splice patterns (SP) for CHKB Gene

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:
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SP5: - - - - - -
SP6: - - - - -
SP7: - - - -
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SP12: - - - - -
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SP16: -
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SP22: - -
SP23: -
SP24:
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SP26:
SP27:
SP28: -
SP29:

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:
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SP10: - - - - - - - -
SP11:
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SP13: - - - - - - - - -
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SP17: - - - -
SP18: - - - -
SP19: - - - - -
SP20: - - - -
SP21:
SP22:
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SP24:
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SP26:
SP27:
SP28:
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: - - - - - -
SP3: - - - -
SP4: - - - - - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:
SP15: - -
SP16:
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SP19:
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SP21:
SP22:
SP23:
SP24:
SP25:
SP26:
SP27: -
SP28:
SP29:

Relevant External Links for CHKB Gene

GeneLoc Exon Structure for
CHKB

Expression for CHKB Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CHKB Gene

mRNA expression in normal human tissues for CHKB Gene
mRNA expression by BioGPS for CHKB GenemRNA expression by GTEx for CHKB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CHKB Gene

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



Protein tissue co-expression partners for CHKB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CHKB

SOURCE GeneReport for Unigene cluster for CHKB Gene:

Hs.654827

Evidence 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
genes like me logo Genes that share expression patterns with CHKB: view

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.

Orthologs for CHKB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CHKB 31 30
  • 99.58 (n)
 OneToMany
dog
(Canis familiaris)
 Mammalia CHKB 30
  • 89.28 (n)
-- 31
  • 85 (a)
 OneToMany
cow
(Bos Taurus)
 Mammalia CHKB 31 30
  • 88.95 (n)
 OneToMany
rat
(Rattus norvegicus)
 Mammalia Chkb 30
  • 85.58 (n)
mouse
(Mus musculus)
 Mammalia Chkb 17 31 30
  • 85.11 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 76 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 65 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 65 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia chkb 30
  • 60.59 (n)
zebrafish
(Danio rerio)
 Actinopterygii chkb 31 30
  • 62.95 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007957 30
  • 53.09 (n)
fruit fly
(Drosophila melanogaster)
 Insecta CG2201 31 30
  • 49.46 (n)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea cka-1 31 30
  • 49.95 (n)
 ManyToMany
cka-2 31
  • 37 (a)
 ManyToMany
ckb-4 31
  • 25 (a)
 ManyToMany
ckb-1 31
  • 25 (a)
 ManyToMany
ckb-2 31
  • 24 (a)
 ManyToMany
ckb-3 31
  • 24 (a)
 ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes EKI1 31
  • 16 (a)
 ManyToMany
CKI1 31
  • 16 (a)
 ManyToMany
thale cress
(Arabidopsis thaliana)
 eudicotyledons AT1G74320 30
  • 46.89 (n)
rice
(Oryza sativa)
 Liliopsida Os05g0535400 30
  • 50 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 39 (a)
 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

Paralogs for CHKB Gene

(2) SIMAP similar genes for CHKB Gene using alignment to 1 proteins:

  • CHKB_HUMAN
genes like me logo Genes that share paralogs with CHKB: view

Variants for CHKB Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CHKB Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
638334 Conflicting Interpretations: Muscular dystrophy, congenital, megaconial type 50,582,644(-) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
638384 Uncertain Significance: Muscular dystrophy, congenital, megaconial type 50,581,438(-) AGCCAGTGGG/A NON_CODING_TRANSCRIPT_VARIANT
639037 Pathogenic: Muscular dystrophy, congenital, megaconial type 50,580,643(-) TG/T FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
642440 Uncertain Significance: Muscular dystrophy, congenital, megaconial type 50,579,428(-) A/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
645296 Uncertain Significance: Muscular dystrophy, congenital, megaconial type 50,579,454(-) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for CHKB Gene

Structural Variations from Database of Genomic Variants (DGV) for CHKB Gene

Variant ID Type Subtype PubMed ID
esv2758852 CNV loss 17122850
nsv1057656 CNV gain 25217958
nsv1059234 CNV gain 25217958
nsv471224 CNV loss 18288195
nsv589222 CNV gain 21841781
nsv589223 CNV loss 21841781
nsv829340 CNV gain 20364138
nsv834239 CNV loss 17160897
nsv955202 CNV deletion 24416366

Variation tolerance for CHKB Gene

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

Human Gene Mutation Database (HGMD)
CHKB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CHKB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHKB Gene

Disorders for CHKB Gene

MalaCards: The human disease database

(48) MalaCards diseases for CHKB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
muscular dystrophy, congenital, megaconial type
  • mdcmc
proximal myopathy with focal depletion of mitochondria
myositis
  • myopathy, familial idiopathic inflammatory; iim
compartment syndrome
  • compartmental syndrome
muscular dystrophy
  • muscular dystrophies
- elite association - COSMIC cancer census association via MalaCards
Search CHKB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CHKB_HUMAN
  • Muscular dystrophy, congenital, megaconial type (MDCMC) [MIM:602541]: An autosomal recessive, congenital muscular dystrophy characterized by early-onset muscle wasting, mental retardation, and dilated cardiomyopathy in half of affected individuals. Some patients may die from cardiomyopathy in the first or second decade of life. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center. {ECO:0000269 PubMed:21665002, ECO:0000269 PubMed:22782513, ECO:0000269 PubMed:24997086, ECO:0000269 PubMed:25187204, ECO:0000269 PubMed:26006750, ECO:0000269 PubMed:26067811}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CHKB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CHKB: view

No data available for Genatlas for CHKB Gene

Publications for CHKB Gene

  1. Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients. (PMID: 26067811) Haliloglu G … Topaloglu H (Journal of inherited metabolic disease 2015) 3 4 54
  2. A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis. (PMID: 21665002) Mitsuhashi S … Nishino I (American journal of human genetics 2011) 3 4 54
  3. 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 41 54
  4. 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 41 54
  5. 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 41 54

ExternalLinks

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