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Aliases for CBS Gene

Aliases for CBS Gene

  • Cystathionine-Beta-Synthase 2 3 5
  • Serine Sulfhydrase 3 4
  • Beta-Thionase 3 4
  • EC 4.2.1.22 4 58
  • Cystathionine Beta-Synthase 3
  • Methylcysteine Synthase 3
  • HIP4 3

External Ids for CBS Gene

Previous GeneCards Identifiers for CBS Gene

  • GC21M041021
  • GC21M043367
  • GC21M043346
  • GC21M044473
  • GC21M029891

Summaries for CBS Gene

Entrez Gene Summary 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 Folate-Alcohol and Cancer Pathway 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).

Gene Wiki entry for CBS Gene

Additional gene information for CBS Gene

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
GH21H043044 1.9 FANTOM5 Ensembl ENCODE dbSUPER 19.6 +29.3 29329 6 FOXA2 PKNOX1 ARNT ARID4B YY1 ZNF766 ZNF416 REST ZNF592 KAT8 CBS U2AF1 PKNOX1 RRP1B PIR40419
GH21H042971 2 FANTOM5 Ensembl ENCODE dbSUPER 12.5 +102.9 102879 5 HNRNPUL1 HDGF PKNOX1 FOXA2 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 WDR4 U2AF1 ENSG00000233754 RRP1B CBS NDUFV3 PKNOX1 PIR31692
GH21H043052 1 Ensembl ENCODE 24.3 +23.7 23739 0 PKNOX1 ZNF687 L3MBTL2 TAL1 NR4A1 CEBPB ZNF592 POLR2A NCOR1 HSF1 CBS PIR40419
GH21H043062 0.9 ENCODE dbSUPER 19.8 +13.0 13019 2 SMAD5 E2F1 GATA3 GATA2 POLR2A ZFP3 HNF4A NR2F6 ZNF600 ZBTB26 CBS PIR40419
GH21H042990 1.4 Ensembl ENCODE dbSUPER 11.6 +84.9 84940 3 HDAC1 PKNOX1 ATF1 ZBTB40 CHAMP1 TCF12 GATA2 FOS ATF7 CREM PKNOX1 CBS PIR59099 GC21P042994
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CBS on UCSC Golden Path with GeneCards custom track

Promoters for CBS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000142820 1243 2601 HDGF ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF416 SP3

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:
CBS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for CBS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry 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

  • Ubiquitination at posLast=394394
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CBS (CBS)

Domains & Families for CBS Gene

Gene Families for CBS Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P35520

UniProtKB/Swiss-Prot:

CBS_HUMAN :
  • Belongs to the cysteine synthase/cystathionine beta-synthase family.
Family:
  • Belongs to the cysteine synthase/cystathionine beta-synthase family.
genes like me logo Genes that share domains with CBS: view

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

Phenotypes From GWAS Catalog for CBS Gene

Gene Ontology (GO) - Molecular Function 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
genes like me logo Genes that share ontologies with CBS: view
genes like me logo Genes that share phenotypes with CBS: view

Human Phenotype Ontology for CBS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CBS Gene

miRTarBase miRNAs that target CBS

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBS
  • Applied Biological Materials Clones for CBS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBS gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 3
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CBS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 17087506
GO:0005737 cytoplasm IDA 23981774
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CBS: view

Pathways & Interactions for CBS Gene

genes like me logo Genes that share pathways with CBS: view

UniProtKB/Swiss-Prot P35520-CBS_HUMAN

  • Pathway: Amino-acid biosynthesis; L-cysteine biosynthesis; L-cysteine from L-homocysteine and L-serine: step 1/2.

Gene Ontology (GO) - Biological Process for CBS Gene

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 --
genes like me logo Genes that share ontologies with CBS: view

No data available for SIGNOR curated interactions for CBS Gene

Drugs & Compounds for CBS Gene

(42) Drugs for CBS Gene - From: DrugBank, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
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 193,193
Ademetionine Approved Nutra Target, activator 0
Water Approved Pharma 0

(32) Additional Compounds for CBS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
homocysteine
  • (+-)-homocysteine
  • (S)-2-amino-4-mercapto-Butanoate
  • (S)-2-amino-4-mercapto-Butanoic acid
  • 2-Amino-4-mercapto-Butanoate
  • 2-Amino-4-mercapto-Butanoic acid
454-29-5
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine
  • 2-S-Adenosyl-L-methionine
  • 5'-Deoxyadenosine-5'-L-methionine disulfate ditosylate
  • 5'-Deoxyadenosine-5'-L-methionine disulphate ditosylate
  • Active methionine
29908-03-0
Allocystathionine
  • a-Amino-g-(2-amino-2-carboxyethylmercapto)-Butyric acid
  • alpha-Amino-gamma-(2-amino-2-carboxyethylmercapto)-Butyric acid
  • DL-Allocystathionine
  • DL-S-(2-amino-2-carboxyethyl)-Homocysteine
535-34-2
L-Cystathionine
  • (R)-S-(2-amino-2-carboxyethyl)-L-Homocysteine
  • Cystathionine
  • L-(+)-Cystathionine
  • S-[(2R)-2-Amino-2-carboxyethyl]-L-Homocysteine
  • [R-(R*,S*)]-2-amino-4-[(2-amino-2-carboxyethyl)thio]-Butanoate
56-88-2
Selenocystathionine
  • 2-Amino-4-((2-amino-2-carboxyethyl)seleno)-Butanoate
  • 2-Amino-4-((2-amino-2-carboxyethyl)seleno)-Butanoic acid
  • 2-Amino-4-((2-amino-2-carboxyethyl)seleno)butanoate
  • 2-Amino-4-((2-amino-2-carboxyethyl)seleno)butanoic acid
  • Selenocystathionine
2196-58-9
genes like me logo Genes that share compounds with CBS: view

Transcripts for CBS Gene

Unigene Clusters for CBS Gene

Cystathionine-beta-synthase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBS
  • Applied Biological Materials Clones for CBS
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CBS Gene

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:

Relevant External Links for CBS Gene

GeneLoc Exon Structure for
CBS
ECgene alternative splicing isoforms for
CBS

Expression for CBS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CBS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CBS Gene

This gene is overexpressed in Liver (x10.4) and Pancreas (x5.1).

Protein differential expression in normal tissues from HIPED for CBS Gene

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



Protein tissue co-expression partners for CBS Gene

NURSA nuclear receptor signaling pathways regulating expression of CBS Gene:

CBS

SOURCE GeneReport for Unigene cluster for CBS Gene:

Hs.533013

mRNA 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
genes like me logo Genes that share expression patterns with CBS: view

Primer Products

Orthologs for CBS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CBS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBS 33 34
  • 99.33 (n)
cow
(Bos Taurus)
Mammalia CBS 33 34
  • 87.78 (n)
dog
(Canis familiaris)
Mammalia CBS 33 34
  • 86.87 (n)
rat
(Rattus norvegicus)
Mammalia Cbs 33
  • 82.75 (n)
mouse
(Mus musculus)
Mammalia Cbs 33 34
  • 82.66 (n)
oppossum
(Monodelphis domestica)
Mammalia CBS 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBS 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBS 33 34
  • 74.18 (n)
lizard
(Anolis carolinensis)
Reptilia CBS 34
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cbs 33
  • 72.62 (n)
Str.1560 33
African clawed frog
(Xenopus laevis)
Amphibia cbs-prov 33
zebrafish
(Danio rerio)
Actinopterygii cbsa 33 34
  • 69.21 (n)
cbsb 34
  • 69 (a)
OneToMany
wufq06c06 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14041 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000162 33
  • 60.28 (n)
fruit fly
(Drosophila melanogaster)
Insecta Cbs 33 34
  • 59.65 (n)
CG1753 35
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea F54A3.4 35
  • 55 (a)
C17G1.7 35
  • 44 (a)
K10H10.2 35
  • 38 (a)
F59A7.9 35
  • 36 (a)
cbs-2 34
  • 29 (a)
OneToMany
cbs-1 34
  • 27 (a)
OneToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AGR012C 33
  • 55.53 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYS4 33 34 36
  • 51.01 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09317g 33
  • 50.6 (n)
rice
(Oryza sativa)
Liliopsida Os06g0564500 33
  • 47.4 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU08216 33
  • 56.24 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4303 34
  • 56 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2405 33
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)

Evolution for CBS Gene

ENSEMBL:
Gene Tree for CBS (if available)
TreeFam:
Gene Tree for CBS (if available)

Paralogs for CBS Gene

Paralogs for CBS Gene

(1) SIMAP similar genes for CBS Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with CBS: view

Variants for CBS Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for CBS Gene

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

Variation tolerance for CBS Gene

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

Human Gene Mutation Database (HGMD)
CBS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBS Gene

Disorders for CBS Gene

MalaCards: The human disease database

(54) MalaCards diseases for CBS Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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

Genetic Association Database (GAD)
CBS
Human Genome Epidemiology (HuGE) Navigator
CBS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBS
genes like me logo Genes that share disorders with CBS: view

Publications for CBS Gene

  1. 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 HG (Human mutation 2004) 3 4 22 45 60
  2. The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. (PMID: 9790750) Kraus JP … Kozich V (Genomics 1998) 2 3 4 22 60
  3. Homocysteine level and metabolism in ischemic stroke in the population of Northern Poland. (PMID: 19166826) Sawuła W … Banecki B (Clinical biochemistry 2009) 3 22 45 60
  4. Genetic association study of putative functional single nucleotide polymorphisms of genes in folate metabolism and spina bifida. (PMID: 19683694) Martinez CA … Au KS (American journal of obstetrics and gynecology 2009) 3 22 45 60
  5. 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) Paré G … Ridker PM (Circulation. Cardiovascular genetics 2009) 3 22 45 60

Products for CBS Gene

  • Addgene plasmids for CBS

Sources for CBS Gene

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