mutLBSgeneDB |
Gene summary for CBS |
![]() |
Basic gene Info. | Gene symbol | CBS |
Gene name | cystathionine-beta-synthase | |
Synonyms | HIP4 | |
Cytomap | UCSC genome browser: 21q22.3 | |
Type of gene | protein-coding | |
RefGenes | NM_000071.2, NM_001178008.1,NM_001178009.1, | |
Description | beta-thionasecystathionine beta-synthasemethylcysteine synthaseserine sulfhydrase | |
Modification date | 20141222 | |
dbXrefs | MIM : 613381 | |
HGNC : HGNC | ||
Ensembl : ENSG00000160200 | ||
HPRD : 01994 | ||
Vega : OTTHUMG00000086834 | ||
Protein | UniProt: P35520 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_CBS | |
BioGPS: 875 | ||
Pathway | NCI Pathway Interaction Database: CBS | |
KEGG: CBS | ||
REACTOME: CBS | ||
Pathway Commons: CBS | ||
Context | iHOP: CBS | |
ligand binding site mutation search in PubMed: CBS | ||
UCL Cancer Institute: CBS | ||
Assigned class in mutLBSgeneDB | A: This gene has a literature evidence and it belongs to targetable_mutLBSgenes. | |
References showing study about ligand binding site mutation for CBS. | 1. "Singh S, Madzelan P, Stasser J, Weeks CL, Becker D, Spiro TG, Penner-Hahn J,Banerjee R. Modulation of the heme electronic structure and cystathionine beta-synthase activity by second coordination sphere ligands: The role of heme ligand switching in redox regulation. J Inorg Biochem. 2009 May;103(5):689-97. doi: 10.1016/j.jinorgbio.2009.01.009. Epub 2009 Jan 22. PubMed PMID: 19232736; PubMed Central PMCID: PMC2772092. " 19232736 2. "Smith AT, Su Y, Stevens DJ, Majtan T, Kraus JP, Burstyn JN. Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase. Biochemistry. 2012 Aug 14;51(32):6360-70. Epub 2012 Jul 31. PubMed PMID: 22738154; PubMed Central PMCID: PMC3569099. " 22738154 |
![]() |
GO ID | GO Term | PubMed ID | GO:0006563 | L-serine metabolic process | 19010420 | GO:0006565 | L-serine catabolic process | 18776696 | GO:0019448 | L-cysteine catabolic process | 15520012 | GO:0043418 | homocysteine catabolic process | 18776696 | GO:0050667 | homocysteine metabolic process | 19010420 | GO:0070814 | hydrogen sulfide biosynthetic process | 15520012 |
Top |
Ligand binding site mutations for CBS |
![]() We represented ligand binding site mutations only. (You can see big image via clicking.) ![]() |
![]() |
![]() |
LBS | AAchange of nsSNV | Cancer type | # samples | I306 | G307S | BRCA | 1 | D538 | L540M | LUSC | 1 | P49 | P49S | SKCM | 1 | V118 | V118M | STAD | 1 | R224 | R224C | UCEC | 1 | K119 | R121H | UCEC | 1 |
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
Top |
Protein structure related information for CBS |
![]() Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
![]() ![]() |
![]() |
![]() Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
LBS | AAchange of nsSNV | Relative stability change | D538 | L540M | -1.4839507 | P49 | P49S | -1.3705286 | K119 | R121H | -1.2461512 | I306 | G307S | -0.75261106 | R224 | R224C | -0.60724271 | V118 | V118M | -0.39603917 |
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
![]() |
Top |
Differential gene expression and gene-gene network for CBS |
![]() |
![]() |
Top |
Top |
Phenotype information for CBS |
![]() |
Disease ID | Disease name | # PubMed | Association type |
umls:C0019880 | Homocystinuria | 79 | Biomarker, GeneticVariation |
umls:C0598608 | Hyperhomocysteinemia | 44 | Biomarker, GeneticVariation |
umls:C1439329 | CYSTATHIONINE BETA-SYNTHASE | 25 | GeneticVariation |
umls:C0007222 | Cardiovascular Diseases | 10 | Biomarker, GeneticVariation |
umls:C0024305 | Lymphoma, Non-Hodgkin | 3 | Biomarker, GeneticVariation |
umls:C0162429 | Malnutrition | 2 | Biomarker, GeneticVariation |
umls:C0011860 | Diabetes Mellitus, Type 2 | 2 | Biomarker, GeneticVariation |
umls:C0020538 | Hypertension | 2 | Biomarker, GeneticVariation |
![]() |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
15156 | G307S | Pathogenic | Germline | GeneReviews:NBK1524 MedGen:C3150344 OMIM:236200 Orphanet:ORPHA394 MedGen:CN068393 MedGen:CN221809 |
187059 | R121H | Likely pathogenic;Pathogenic | Germline;unknown | GeneReviews:NBK1524 MedGen:C3150344 OMIM:236200 Orphanet:ORPHA394 MedGen:CN221809 |
210431 | R224C | Likely pathogenic | Germline | MedGen:CN221809 |
Top |
Pharmacological information for CBS |
![]() Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
![]() |
![]() |
![]() |
![]() |
Drug status | DrugBank ID | Name | Type | Drug structure |
Nutraceutical | DB00114 | Pyridoxal Phosphate | Small molecule | ![]() |
Approved|nutraceutical | DB00118 | S-Adenosylmethionine | Small molecule | ![]() |
Approved|nutraceutical | DB00133 | L-Serine | Small molecule | ![]() |
Approved|nutraceutical | DB00151 | L-Cysteine | Small molecule | ![]() |
![]() |
![]() |
![]() |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAM | S-ADENOSYL-L-METHIONINE | 4uuu | A | D538 | SAM | S-ADENOSYL-L-METHIONINE | 4uuu | B | D538 | SAM | S-ADENOSYL-L-METHIONINE | 4pcu | A | D538 | SAM | S-ADENOSYL-L-METHIONINE | 4pcu | B | D538 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1jbq | A | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1jbq | B | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1jbq | C | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1jbq | D | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1jbq | E | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1jbq | F | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1m54 | A | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1m54 | B | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1m54 | D | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1m54 | E | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1m54 | F | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l0d | A | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l0d | B | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l27 | B | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l27 | D | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l27 | A | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l27 | C | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l28 | A | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l28 | B | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l28 | C | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l28 | D | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l3v | B | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l3v | A | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4l3v | C | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4coo | A | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4coo | B | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4pcu | A | K119 I306 | PLP | PYRIDOXAL 5'-PHOSPHATE | 4pcu | B | K119 I306 | HEM | HEME B | 1m54 | D | P49 | HEM | HEME B | 4pcu | A | P49 | HEM | HEME B | 1m54 | B | P49 R224 | HEM | HEME B | 4pcu | B | P49 R224 | HEM | HEME B | 1jbq | A | R224 | HEM | HEME B | 1jbq | B | R224 | HEM | HEME B | 1jbq | C | R224 | HEM | HEME B | 1jbq | D | R224 | HEM | HEME B | 1jbq | E | R224 | HEM | HEME B | 1jbq | F | R224 | HEM | HEME B | 1m54 | F | R224 | HEM | HEME B | 4l27 | B | R224 | HEM | HEME B | 4l27 | D | R224 | HEM | HEME B | 4l27 | C | R224 | PLP | PYRIDOXAL 5'-PHOSPHATE | 1m54 | C | V118 K119 I306 |
Top |
Conservation information for LBS of CBS |
![]() |
LBS | AA sequence | # species | Species |
![]() |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |