CBS (cystathionine beta-synthase)

2004-05-01  

Identity

HGNC
CBS
LOCATION
21q22.3
LOCUSID
875
ALIAS
CBSL,HIP4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 875
MIM: 613381
HGNC: 1550
Ensembl: ENSG00000160200

Variants:

dbSNP: 875
ClinVar: 875
TCGA: ENSG00000160200
COSMIC: CBS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160200ENST00000352178P35520
ENSG00000160200ENST00000359624P35520
ENSG00000160200ENST00000398158P35520
ENSG00000160200ENST00000398165P35520
ENSG00000160200ENST00000430013H7C2H4
ENSG00000160200ENST00000441030C9JMA6
ENSG00000160200ENST00000451248H7C1W6
ENSG00000160200ENST00000458223H7C2W0

Expression (GTEx)

0
1
2
3
4
5
6
7
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Glycine, serine and threonine metabolismKEGGko00260
Glycine, serine and threonine metabolismKEGGhsa00260
Cysteine and methionine metabolismKEGGko00270
Cysteine and methionine metabolismKEGGhsa00270
Metabolic pathwaysKEGGhsa01100
Methionine degradationKEGGhsa_M00035
Cysteine biosynthesis, homocysteine + serine => cysteineKEGGhsa_M00338
Methionine degradationKEGGM00035
Cysteine biosynthesis, homocysteine + serine => cysteineKEGGM00338
Biosynthesis of amino acidsKEGGhsa01230
Biosynthesis of amino acidsKEGGko01230
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Sulfur amino acid metabolismREACTOMER-HSA-1614635
Cysteine formation from homocysteineREACTOMER-HSA-1614603
Selenoamino acid metabolismREACTOMER-HSA-2408522
Metabolism of ingested SeMet, Sec, MeSec into H2SeREACTOMER-HSA-2408508

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450423l-methionineChemicalLiterature, MultilinkAnnotationassociated24651765

References

Pubmed IDYearTitleCitations
384884172024Association between CBS gene T833C, G919A and 844ins68 polymorphisms in the 8th exon region and coronary artery disease: a meta-analysis.0
385634632024Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria.1
385755662024Architecture and regulation of filamentous human cystathionine beta-synthase.1
384884172024Association between CBS gene T833C, G919A and 844ins68 polymorphisms in the 8th exon region and coronary artery disease: a meta-analysis.0
385634632024Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria.1
385755662024Architecture and regulation of filamentous human cystathionine beta-synthase.1
364768322023ERα/ERβ-directed CBS transcription mediates E2β-stimulated hUAEC H2S production.4
378646232023The Role of Cystathionine-β-Synthase, H(2)S, and miRNA-377 in Hypoxic-Ischemic Encephalopathy: Insights from Human and Animal Studies.0
379492282023Disease-causing cystathionine β-synthase linker mutations impair allosteric regulation.1
382389502023[Exploration of cystathionine β-synthase and cystathionine γ-lyase gene expression poor prognostic predictive value with the application of bioinformatics data mining in liver cancer].0
364768322023ERα/ERβ-directed CBS transcription mediates E2β-stimulated hUAEC H2S production.4
378646232023The Role of Cystathionine-β-Synthase, H(2)S, and miRNA-377 in Hypoxic-Ischemic Encephalopathy: Insights from Human and Animal Studies.0
379492282023Disease-causing cystathionine β-synthase linker mutations impair allosteric regulation.1
382389502023[Exploration of cystathionine β-synthase and cystathionine γ-lyase gene expression poor prognostic predictive value with the application of bioinformatics data mining in liver cancer].0
344957912022Understanding the role of R266K mutation in cystathionine β-synthase (CBS) enzyme: an in silico study.0

Citation

Dessen P

CBS (cystathionine beta-synthase)

Atlas Genet Cytogenet Oncol Haematol. 2004-05-01

Online version: http://atlasgeneticsoncology.org/gene/364/img/css/case-report-explorer/