Aliases for CBS Gene
Aliases for CBS Gene
External Ids for CBS Gene
- HGNC: 1550
- Entrez Gene: 875
- Ensembl: ENSG00000160200
- OMIM: 613381
- UniProtKB: P35520
Previous GeneCards Identifiers for CBS Gene
- GC21M041021
- GC21M043367
- GC21M043346
- GC21M044473
- GC21M029891
Summaries for CBS Gene
-
The protein encoded by this gene acts as a homotetramer to catalyze the conversion of homocysteine to cystathionine, the first step in the transsulfuration pathway. The encoded protein is allosterically activated by adenosyl-methionine and uses pyridoxal phosphate as a cofactor. Defects in this gene can cause cystathionine beta-synthase deficiency (CBSD), which can lead to homocystinuria. This gene is a major contributor to cellular hydrogen sulfide production. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]
GeneCards Summary for CBS Gene
CBS (Cystathionine-Beta-Synthase) is a Protein Coding gene. Diseases associated with CBS include Homocystinuria, B6-Responsive And Nonresponsive Types and Homocystinuria. Among its related pathways are One carbon pool by folate and Viral mRNA Translation. GO annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is CBSL.
UniProtKB/Swiss-Prot for CBS Gene
-
Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBS Gene
Genomics for CBS Gene
Regulatory Elements for CBS Gene
Enhancers for CBS Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH21G043044 | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 19.6 | +29.3 | 29329 | 6.3 | PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ARID4B YY1 ZNF766 ZNF416 ZNF207 | CBS U2AF1 PKNOX1 ENSG00000233754 ENSG00000235772 WDR4 PIR40419 |
| GH21G042971 | 2 | FANTOM5 Ensembl ENCODE dbSUPER | 12.5 | +102.9 | 102879 | 5.6 | CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 | CBS NDUFV3 PKNOX1 U2AF1 WDR4 PIR31692 |
| GH21G043052 | 1 | Ensembl ENCODE | 24.3 | +23.7 | 23739 | 0.6 | PKNOX1 AGO1 TAL1 POLR2A NCOR1 HSF1 TRIM24 DNMT1 SNRNP70 L3MBTL2 | CBS PIR40419 |
| GH21G043062 | 1.2 | ENCODE dbSUPER | 19.8 | +13.0 | 13019 | 2.7 | FOXA2 ATF1 MLX AGO1 ARID4B SIN3A DMAP1 YY1 SLC30A9 GATA2 | CBS U2AF1 PIR40419 |
| GH21G043054 | 0.9 | ENCODE dbSUPER | 20.1 | +21.9 | 21938 | 0.2 | SMARCA5 ZNF10 YY1 POLR2A HDAC2 ZNF239 THRAP3 KDM1A HNF4A SUPT5H | CBS PIR40419 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CBS on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the CBS gene promoter:
Regulatory Element Products
Genomic Location for CBS Gene
- Chromosome:
- 21
- Start:
- 43,053,191 bp from pter
- End:
- 43,076,943 bp from pter
- Size:
- 23,753 bases
- Orientation:
- Minus strand
Genomic View for CBS Gene
Genes around CBS on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.3 by Ensembl
- 21q22.3 by Entrez Gene
- 21q22.3 by HGNC
CBS Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CBS Gene
Proteins for CBS Gene
-
Protein details for CBS Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P35520-CBS_HUMAN
- Recommended name:
- Cystathionine beta-synthase
- Protein Accession:
- P35520
- B2R993
- D3DSK4
- Q99425
- Q9BWC5
Protein attributes for CBS Gene
- Size:
- 551 amino acids
- Molecular mass:
- 60587 Da
- Cofactor:
- Name=pyridoxal 5-phosphate; Xref=ChEBI:CHEBI:597326;
- Quaternary structure:
-
- Homotetramer.
Three dimensional structures from OCA and Proteopedia for CBS Gene
Protein Expression for CBS Gene
Selected DME Specific Peptides for CBS Gene
- P35520:
-
- EKVDVLRALGAEIVRTPTNARFDSPESHVGVAWRLK
- GTGGTITGIARKLKEKCPGC
- SNPLAHYD
- GYRCIIVMPEKMS
- EIPNSHILDQY
- LSAPLTVLPT
- LSHILEMDHFALVVHEQIQ
- ILGMVTLGNMLSSLLAGKV
- KSPKILPDIL
- AKCEFFNAGGSVKDRI
- IIGVDPEGSILAEPEELNQTE
Post-translational modifications for CBS Gene
Other Protein References for CBS Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for CBS
- Cell Signaling Technology (CST) Antibodies for CBS (CBS)
-
Custom Antibody ServicesOriGene Antibodies for CBS
- Novus Biologicals Antibodies for CBS
- Invitrogen Antibodies for CBS
- antibodies-online Antibodies for CBS: See all 110
- GeneTex CBS antibody for CBS
Protein Products
-
OriGene Purified Proteins for CBS
- Search Origene for MassSpec and Protein Over-expression Lysates for CBS
- Origene Custom Protein Services for CBS
- antibodies-online Proteins for CBS: See all 22
- Search antibodies-online for peptides
- Search GeneTex for Proteins for CBS
Assay Products
- antibodies-online Kits for CBS: See all 10
Domains & Families for CBS Gene
Gene Families for CBS Gene
- IUPHAR :
Protein Domains for CBS Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for CBS Gene
Graphical View of Domain Structure for InterPro Entry
P35520UniProtKB/Swiss-Prot:
CBS_HUMAN :- Belongs to the cysteine synthase/cystathionine beta-synthase family.
- Family:
-
- Belongs to the cysteine synthase/cystathionine beta-synthase family.
Function for CBS Gene
Molecular function for CBS Gene
- GENATLAS Biochemistry:
- cystathionine beta synthase gene with several transcripts,alternatively spliced in 5,sulfur aminoacid metabolism,susceptibility gene to neural tube defect in association with MTHFR,no evidence of association with NTD in Netherlands and U.K.,interacting with huntingtin
- UniProtKB/Swiss-Prot CatalyticActivity:
- L-serine + L-homocysteine = L-cystathionine + H(2)O.
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Allosterically activated by S-adenosyl-methionine/AdoMet. Activated by S-adenosylhomocysteine/AdoHcy (PubMed:20506325). Binds non-covalently to a heme group that may control the redox sensitivity of the enzyme (PubMed:11483494, PubMed:12173932, PubMed:22738154).
- UniProtKB/Swiss-Prot Function:
- Hydro-lyase catalyzing the first step of the transsulfuration pathway, where the hydroxyl group of L-serine is displaced by L-homocysteine in a beta-replacement reaction to form L-cystathionine, the precursor of L-cysteine. This catabolic route allows the elimination of L-methionine and the toxic metabolite L-homocysteine (PubMed:23981774, PubMed:20506325, PubMed:23974653). Also involved in the production of hydrogen sulfide, a gasotransmitter with signaling and cytoprotective effects on neurons (By similarity).
Enzyme Numbers (IUBMB) for CBS Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004122 | cystathionine beta-synthase activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 17087506 |
| GO:0016829 | lyase activity | IEA | -- |
| GO:0019825 | oxygen binding | IDA | 24515102 |
| GO:0019899 | enzyme binding | IPI | 17087506 |
Phenotypes for CBS Gene
- GenomeRNAi human phenotypes for CBS:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CBS
-
-
ViGene Biosciences lentiviral particle packaged cDNA for CBS gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CBS gene
- Search ViGene Biosciences for CBS
CRISPR Products
-
OriGene CRISPR knockouts for CBS
-
Santa Cruz Biotechnology (SCBT) CRISPR for CBS
- GenScript: Design CRISPR guide RNA sequences for CBS
miRNA for CBS Gene
- miRTarBase miRNAs that target CBS
-
- hsa-mir-106b-3p (MIRT038567)
- hsa-mir-652-3p (MIRT039571)
- hsa-mir-615-3p (MIRT040018)
- hsa-mir-193b-3p (MIRT041577)
- hsa-mir-324-5p (MIRT043169)
- hsa-mir-149-5p (MIRT045521)
- hsa-mir-92a-3p (MIRT049293)
- hsa-mir-6883-5p (MIRT487225)
- hsa-mir-6785-5p (MIRT487227)
- hsa-mir-4728-5p (MIRT487228)
- hsa-mir-149-3p (MIRT487229)
- hsa-mir-765 (MIRT487230)
- hsa-mir-766-5p (MIRT487231)
- hsa-mir-7-5p (MIRT487232)
- hsa-mir-6783-5p (MIRT487233)
- hsa-mir-5093 (MIRT487234)
- hsa-mir-483-5p (MIRT487235)
- hsa-mir-580-5p (MIRT487236)
- hsa-mir-1273e (MIRT503868)
- hsa-mir-6851-5p (MIRT503869)
- hsa-mir-3689d (MIRT503870)
- hsa-mir-4722-5p (MIRT503871)
- hsa-mir-7854-3p (MIRT503872)
- hsa-mir-6840-3p (MIRT503873)
- hsa-mir-665 (MIRT503874)
- hsa-mir-4768-3p (MIRT503875)
- hsa-mir-4459 (MIRT503876)
- hsa-mir-4538 (MIRT503877)
- hsa-mir-4453 (MIRT503878)
- hsa-mir-5006-5p (MIRT568993)
- hsa-mir-3972 (MIRT568994)
- hsa-mir-1202 (MIRT568995)
- hsa-mir-6825-5p (MIRT568996)
- hsa-mir-7106-5p (MIRT568997)
- hsa-mir-4755-3p (MIRT568998)
- hsa-mir-6763-5p (MIRT631292)
- hsa-mir-3150a-3p (MIRT631293)
- hsa-mir-6514-3p (MIRT631294)
- hsa-mir-6783-3p (MIRT631295)
- hsa-mir-1343-3p (MIRT631296)
- hsa-mir-7977 (MIRT631297)
- hsa-mir-550a-5p (MIRT631298)
- hsa-mir-550a-3-5p (MIRT631299)
- hsa-mir-1271-3p (MIRT631300)
- hsa-mir-939-5p (MIRT631301)
- hsa-mir-1343-5p (MIRT631302)
- hsa-mir-3175 (MIRT631303)
- hsa-mir-6811-3p (MIRT631304)
- hsa-mir-214-5p (MIRT631305)
- hsa-mir-8089 (MIRT631306)
- hsa-mir-4700-5p (MIRT631307)
- hsa-mir-4667-5p (MIRT631308)
- hsa-mir-6742-3p (MIRT631309)
- hsa-mir-6852-5p (MIRT631310)
- hsa-mir-939-3p (MIRT631311)
- hsa-mir-4267 (MIRT631312)
- hsa-mir-6736-3p (MIRT631313)
- hsa-mir-129-5p (MIRT644204)
- hsa-mir-8055 (MIRT644205)
- hsa-mir-629-3p (MIRT644206)
- hsa-mir-6864-3p (MIRT644207)
- hsa-mir-3672 (MIRT644208)
- hsa-mir-4713-5p (MIRT644209)
- hsa-mir-6867-3p (MIRT644210)
- hsa-mir-6832-3p (MIRT644211)
- hsa-mir-6756-3p (MIRT644212)
- hsa-mir-3127-3p (MIRT644213)
- hsa-mir-323b-3p (MIRT644214)
- hsa-mir-195-3p (MIRT644215)
- hsa-mir-16-2-3p (MIRT644216)
- hsa-mir-548s (MIRT683812)
- hsa-mir-3926 (MIRT683813)
- hsa-mir-3190-5p (MIRT683814)
- hsa-mir-5699-3p (MIRT683815)
- hsa-mir-4421 (MIRT683816)
- hsa-mir-6849-3p (MIRT683817)
- hsa-mir-6732-3p (MIRT683818)
miRNA Products
- Search ViGene Biosciences for CBS
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CBS
- Browse OriGene Inhibitory RNA Products For CBS
-
ViGene Biosciences ready-to-package AAV shRNAs for CBS gene
Clone Products
- Sino Biological Human cDNA Clone for CBS
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CBS
- VectorBuilder custom plasmid, inducible vectors for CBS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBS
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for CBS gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CBS gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CBS gene
Flow Cytometry Products
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CBS Gene
Localization for CBS Gene
Subcellular locations from UniProtKB/Swiss-Prot for CBS Gene
- Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
| extracellular | 2 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| endoplasmic reticulum | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 17087506 |
| GO:0005737 | cytoplasm | IDA | 23981774 |
| GO:0005829 | cytosol | TAS | -- |
Pathways & Interactions for CBS Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | One carbon pool by folate | ||
| 2 | Viral mRNA Translation | ||
| 3 | Sulfur amino acid metabolism | ||
| 4 | Folate Metabolism | ||
| 5 | Metabolism |
.37
|
|
Pathways by source for CBS Gene
1 Cell Signaling Technology pathway for CBS Gene
11 BioSystems pathways for CBS Gene
2 PharmGKB pathways for CBS Gene
4 KEGG pathways for CBS Gene
1 GeneGo (Thomson Reuters) pathway for CBS Gene
UniProtKB/Swiss-Prot P35520-CBS_HUMAN
- Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2.
Interacting Proteins for CBS Gene
Selected Interacting proteins:
ENSP00000344460
P35520-CBS_HUMAN
for CBS Gene via
STRING
MINT
UniProtKB
IID
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006535 | cysteine biosynthetic process from serine | IEA | -- |
| GO:0006563 | L-serine metabolic process | IDA | 19010420 |
| GO:0006565 | L-serine catabolic process | IDA | 18776696 |
| GO:0008152 | metabolic process | IEA | -- |
| GO:0008652 | cellular amino acid biosynthetic process | IEA | -- |
No data available for SIGNOR curated interactions for CBS Gene
Drugs & Compounds for CBS Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| S-Adenosylmethionine | Approved | Nutra | Target, activator | 0 | ||
| L-Cysteine | Approved | Nutra | Target | 0 | ||
| L-Serine | Approved | Nutra | Full agonist, Agonist, Target | Weak endogenous glycine receptor agonist | 0 | |
| Pyridoxine | Approved, Vet_approved | Nutra | 188,188 | |||
| Water | Approved | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| homocysteine |
|
454-29-5 | ||||
| Allocystathionine |
|
535-34-2 |
|
|||
| L-Cystathionine |
|
56-88-2 |
|
|||
| Selenocystathionine |
|
2196-58-9 |
|
|||
| Selenohomocysteine |
|
29412-93-9 |
|
Transcripts for CBS Gene
mRNA/cDNA for CBS Gene
- (18) REFSEQ mRNAs :
- (14) Additional mRNA sequences :
- (312) Selected AceView cDNA sequences:
- (17) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CBS Gene
CRISPR Products
-
OriGene CRISPR knockouts for CBS
-
Santa Cruz Biotechnology (SCBT) CRISPR for CBS
- GenScript: Design CRISPR guide RNA sequences for CBS
miRNA Products
- Search ViGene Biosciences for CBS
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CBS
- Browse OriGene Inhibitory RNA Products For CBS
-
ViGene Biosciences ready-to-package AAV shRNAs for CBS gene
Clone Products
- Sino Biological Human cDNA Clone for CBS
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for CBS
- VectorBuilder custom plasmid, inducible vectors for CBS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBS
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| ExUns: | 1 | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4a | · | 4b | · | 4c | · | 4d | ^ | 5 | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | - |
| ExUns: | 13a | · | 13b | ^ | 14a | · | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d | ^ | 16a | · | 16b | · | 16c | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21a | · | 21b | · | 21c | ^ | 22a | · | 22b | · | 22c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||
| SP6: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||||||||||
| SP9: | - | ||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP14: | - | - | |||||||||||||||||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||||||||||||||||
| SP16: | |||||||||||||||||||||||||||||||||||||||||
| SP17: | |||||||||||||||||||||||||||||||||||||||||
| SP18: |
Expression for CBS Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Lung (Respiratory System)
- Basal Cells Respiratory Bronchioles
-
Epithelial Cells
- Basal Cells Respiratory Bronchioles
-
Liver (Hepatobiliary System)
- Hepatocytes Liver Lobule
- NULL (Uncategorized)
-
Lymph (Hematopoietic System)
mRNA differential expression in normal tissues according to GTEx for CBS Gene
This gene is overexpressed in Liver (x10.4) and Pancreas (x5.1).
This gene is overexpressed in Gallbladder (31.6), Liver, secretome (16.5), and Liver (15.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CBS Gene
NURSA nuclear receptor signaling pathways regulating expression of CBS Gene:
CBSSOURCE GeneReport for Unigene cluster for CBS Gene:
Hs.533013mRNA Expression by UniProt/SwissProt for CBS Gene:
P35520-CBS_HUMAN
Tissue specificity:
In the adult strongly expressed in liver and pancreas, some expression in heart and brain, weak expression in lung and kidney. In the fetus, expressed in brain, liver and kidney.
Evidence on tissue expression from TISSUES for CBS Gene
- Nervous system(4.9)
- Liver(4.7)
- Eye(4.6)
- Lung(4.5)
- Muscle(4.5)
- Blood(2.3)
- Heart(2.3)
- Pancreas(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CBS Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Organs:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
- tooth
Thorax:
- chest wall
- clavicle
- diaphragm
- esophagus
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- intestine
- liver
- pancreas
- stomach
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- hair
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CBS
Orthologs for CBS Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CBS 34 35 |
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| cow (Bos Taurus) |
Mammalia | CBS 34 35 |
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| dog (Canis familiaris) |
Mammalia | CBS 34 35 |
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| rat (Rattus norvegicus) |
Mammalia | Cbs 34 |
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| mouse (Mus musculus) |
Mammalia | Cbs 34 35 |
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| oppossum (Monodelphis domestica) |
Mammalia | CBS 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CBS 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CBS 34 35 |
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| lizard (Anolis carolinensis) |
Reptilia | CBS 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cbs 34 |
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| Str.1560 34 |
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| African clawed frog (Xenopus laevis) |
Amphibia | cbs-prov 34 |
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| zebrafish (Danio rerio) |
Actinopterygii | cbsa 34 35 |
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| cbsb 35 |
|
OneToMany | |||
| wufq06c06 34 |
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| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.14041 34 |
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| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000162 34 |
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| fruit fly (Drosophila melanogaster) |
Insecta | Cbs 34 35 |
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| CG1753 36 |
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| worm (Caenorhabditis elegans) |
Secernentea | F54A3.4 36 |
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| C17G1.7 36 |
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| K10H10.2 36 |
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| F59A7.9 36 |
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| cbs-2 35 |
|
OneToMany | |||
| cbs-1 35 |
|
OneToMany | |||
| A. gosspyii yeast (Ashbya gossypii) |
Saccharomycetes | AGOS_AGR012C 34 |
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| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CYS4 34 35 37 |
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| K. lactis yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0F09317g 34 |
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| rice (Oryza sativa) |
Liliopsida | Os06g0564500 34 |
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| bread mold (Neurospora crassa) |
Ascomycetes | NCU08216 34 |
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| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.4303 35 |
|
OneToOne | |
| sea squirt (Ciona intestinalis) |
Ascidiacea | Cin.2405 34 |
|
- Species where no ortholog for CBS was found in the sources mined by GeneCards:
-
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- 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)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- 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)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for CBS Gene
Paralogs for CBS Gene
- CBSL 5
- LOC102724560 34
(1) SIMAP similar genes for CBS Gene using alignment to 8 proteins:
Variants for CBS Gene
| SNP ID | Clin | Chr 21 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs11700812 | Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] | 43,060,480(+) | CGCAG(C/G/T)GCTGG | nc-transcript-variant, reference, missense | |
| rs117687681 | Pathogenic, Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] | 43,060,481(+) | GCAGC(A/G)CTGGC | nc-transcript-variant, reference, missense | |
| rs121964962 | Pathogenic, Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] | 43,062,988(-) | GGATC(A/G)GCTAC | nc-transcript-variant, reference, missense | |
| rs121964963 | Pathogenic, Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] | 43,066,260(-) | CGAGC(C/T)GACAT | nc-transcript-variant, reference, missense | |
| rs121964964 | Pathogenic, Cystathionine beta-synthase deficiency (CBSD) [MIM:236200] | 43,066,353(-) | CAACG(C/G/T)GGGCG | nc-transcript-variant, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2666871 | CNV | deletion | 23128226 |
| esv3647098 | CNV | loss | 21293372 |
| nsv1072185 | CNV | deletion | 25765185 |
| nsv459278 | CNV | gain | 19166990 |
| nsv510800 | CNV | deletion | 20534489 |
| nsv521438 | CNV | loss | 19592680 |
| nsv526609 | CNV | loss | 19592680 |
| nsv587657 | CNV | gain | 21841781 |
| nsv587662 | CNV | gain | 21841781 |
| nsv953637 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
41.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.94;
49.14% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CBS Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBS Gene
Disorders for CBS Gene
(57) MalaCards diseases for CBS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| homocystinuria, b6-responsive and nonresponsive types |
|
|
| homocystinuria |
|
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| homocystinuria due to cbs deficiency |
|
|
| mthfr deficiency |
|
|
| thoracic aortic aneurysms and aortic dissections |
|
|
Search CBS in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CBS_HUMAN- Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]: An enzymatic deficiency resulting in altered sulfur metabolism and homocystinuria. The clinical features of untreated homocystinuria due to CBS deficiency include myopia, ectopia lentis, mental retardation, skeletal anomalies resembling Marfan syndrome, and thromboembolic events. Light skin and hair can also be present. Biochemical features include increased urinary homocystine and methionine. {ECO:0000269 PubMed:10215408, ECO:0000269 PubMed:10408774, ECO:0000269 PubMed:10462600, ECO:0000269 PubMed:11013450, ECO:0000269 PubMed:11359213, ECO:0000269 PubMed:11553052, ECO:0000269 PubMed:12007221, ECO:0000269 PubMed:12124992, ECO:0000269 PubMed:12815602, ECO:0000269 PubMed:1301198, ECO:0000269 PubMed:14635102, ECO:0000269 PubMed:15146473, ECO:0000269 PubMed:15365998, ECO:0000269 PubMed:15993874, ECO:0000269 PubMed:16205833, ECO:0000269 PubMed:16429402, ECO:0000269 PubMed:20506325, ECO:0000269 PubMed:21240075, ECO:0000269 PubMed:21520339, ECO:0000269 PubMed:22738154, ECO:0000269 PubMed:23974653, ECO:0000269 PubMed:23981774, ECO:0000269 PubMed:25044645, ECO:0000269 PubMed:7506602, ECO:0000269 PubMed:7564249, ECO:0000269 PubMed:7611293, ECO:0000269 PubMed:7635485, ECO:0000269 PubMed:7762555, ECO:0000269 PubMed:7849717, ECO:0000269 PubMed:7967489, ECO:0000269 PubMed:7981678, ECO:0000269 PubMed:8353501, ECO:0000269 PubMed:8528202, ECO:0000269 PubMed:8755636, ECO:0000269 PubMed:8803779, ECO:0000269 PubMed:8990018, ECO:0000269 PubMed:9156316, ECO:0000269 PubMed:9266356, ECO:0000269 PubMed:9361025, ECO:0000269 PubMed:9889017}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for CBS Gene
homocystinuria,pyridoxine responsive or not responsive forms,neural tube defect,no evidence of association with NTD in Netherlands and U.K.,interacting with huntingtin
Relevant External Links for CBS
Publications for CBS Gene
- The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: vitamin B6 nonresponsiveness and a common ancestral haplotype. (PMID: 15365998) Linnebank M. … Koch H.G. (Hum. Mutat. 2004) 3 4 22 46 64
- The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. (PMID: 9790750) Kraus J.P. … Kozich V. (Genomics 1998) 2 3 4 22 64
- Homocysteine level and metabolism in ischemic stroke in the population of Northern Poland. (PMID: 19166826) SawuA8a W. … Banecki B. (Clin. Biochem. 2009) 3 22 46 64
- Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. (PMID: 19683694) Martinez C.A. … Au K.S. (Am. J. Obstet. Gynecol. 2009) 3 22 46 64
- Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. (PMID: 20031578) ParAc G. … Ridker P.M. (Circ Cardiovasc Genet 2009) 3 22 46 64
Products for CBS Gene
- Browse R&D Systems for Antibodies
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- Custom Antibody ServicesOriGene Antibodies for CBS
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CBS
- Search Origene for MassSpec and Protein Over-expression Lysates for CBS
- Origene Custom Protein Services for CBS
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CBS
- Browse OriGene Inhibitory RNA Products For CBS
- OriGene qPCR primer pairs for CBS
- OriGene CRISPR knockouts for CBS
- OriGene ORF clones in human for CBS
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CBS
- GenScript: Next-day shipping cDNA ORF clone for CBS in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CBS
- GenScript Custom Assay Services for CBS
- GenScript Custom overexpressing Cell Line Services for CBS
- GenScript: Design CRISPR guide RNA sequences for CBS
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CBS
- Cell Signaling Technology (CST) Antibodies for CBS (CBS)
- Search for Antibodies & Assays
- Sino Biological Human cDNA Clone for CBS
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for CBS
- Novus Biologicals proteins and lysates for CBS
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Addgene plasmids for CBS
- antibodies-online Antibodies for CBS: See all 110
- antibodies-online Kits for CBS: See all 10
- antibodies-online Proteins for CBS: See all 22
- Search antibodies-online for peptides
- GeneTex CBS antibody for CBS
- Search GeneTex for Proteins for CBS
- ViGene Biosciences adenoviral particle packaged cDNA for CBS gene
- ViGene Biosciences lentiviral particle packaged cDNA for CBS gene
- ViGene Biosciences ready-to-package AAV shRNAs for CBS gene
- Search ViGene Biosciences for CBS
- Search Santa Cruz Biotechnology (SCBT) for CBS siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CBS
- Cyagen custom Knockout/knockin (KOKI) mouse models for CBS
- VectorBuilder custom plasmid, inducible vectors for CBS
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CBS
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CBS Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
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- (122) diseasecard
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- (140) FANTOM5
- (141) ENCODE
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- (143) Horizon
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- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer