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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
choline kinase beta
Summary
- Gene Symbol
-
- CHKB
- Aliases
-
- CHETK
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- ATP-binding
- Acetylation
- Alternative splicing
- Congenital muscular dystrophy
- Direct protein sequencing
- Disease variant
- Kinase
- Phospholipid biosynthesis
- Reference proteome
- Proteins
| UniProt | Protein Name |
|---|---|
| Q9Y259 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| muscle organ development | ||
| phosphatidylethanolamine biosynthetic process | ||
| CDP-choline pathway |
GO Hierarchy
biological process
metabolic process [inference]
cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| ethanolamine kinase activity | ||
| choline kinase activity | ||
| ATP binding |
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110281 | autosomal recessive limb-girdle muscular dystrophy type 2G | |
| DOID:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
| DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000750 | Delayed speech and language development |
| HP:0001249 | Intellectual disability |
| HP:0001250 | Seizure |
| HP:0001270 | Motor delay |
| HP:0001290 | Generalized hypotonia |
| HP:0001324 | Muscle weakness |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0002465 | Poor speech |
| Disease ID | Disease Name |
|---|---|
| OMIM:602541 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
LIPID MAPS Gene / Proteome Database
- LMPD ID
- LMP001706
- Gene Name
- choline kinase beta
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 175565 | WB:WBGene00000512 | ||
| 177807 | WB:WBGene00000509 | ||
| 180703 | WB:WBGene00000510 | ||
| 181904 | WB:WBGene00000511 | ||
| 181905 | WB:WBGene00000513 | ||
| 184864 | WB:WBGene00000514 | ||
| 35417 | FB:FBgn0032955 | ||
| 100186785 | CIOIN01178 | ||
| 563589 | ZFIN:ZDB-GENE-030131-2928 | ||
| 108711264 | Xenbase:XB-GENE-17333334 |
