CBS (cystathionine beta-synthase)

2004-05-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
CBSL,HIP4
FUSION GENES

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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA450423l-methionineChemicalLiterature, MultilinkAnnotationassociated24651765

References

Pubmed IDYearTitleCitations
1079155920005,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review.184
195314792009Relative contributions of cystathionine beta-synthase and gamma-cystathionase to H2S biogenesis via alternative trans-sulfuration reactions.165
238366522013Tumor-derived hydrogen sulfide, produced by cystathionine-β-synthase, stimulates bioenergetics, cell proliferation, and angiogenesis in colon cancer.140
155200122004Production of the neuromodulator H2S by cystathionine beta-synthase via the condensation of cysteine and homocysteine.89
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
149776392004Polymorphisms in genes involved in folate metabolism and colorectal neoplasia: a HuGE review.81
242361042013Cystathionine beta-synthase (CBS) contributes to advanced ovarian cancer progression and drug resistance.73
194933492009118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
126423432003Genetic and nutritional factors contributing to hyperhomocysteinemia in young adults.54

Citation

Dessen P

CBS (cystathionine beta-synthase)

Atlas Genet Cytogenet Oncol Haematol. 2004-05-01

Online version: http://atlasgeneticsoncology.org/gene/364/cbs-(cystathionine-beta-synthase)