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 homo... See more...

Aliases for CBS Gene

Aliases for CBS Gene

  • Cystathionine Beta-Synthase 2 3 4 5
  • Serine Sulfhydrase 3 4
  • Beta-Thionase 3 4
  • EC 4.2.1.22 4 51
  • HIP4 2 3
  • Cystathionine Beta-Synthase-Like Protein 3
  • Cystathionine-Beta-Synthase 2
  • Methylcysteine Synthase 3
  • CBSL 3
  • CBS 5

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 Due To Cystathionine Beta-Synthase Deficiency and Homocystinuria. Among its related pathways are Folate Metabolism and One carbon pool by folate. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and enzyme binding. An important paralog of this gene is CBSL.

UniProtKB/Swiss-Prot Summary 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBS Gene

Genomics for CBS Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CBS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBS on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBS

Top Transcription factor binding sites by QIAGEN in the CBS gene promoter:
  • Arnt
  • FOXJ2
  • FOXJ2 (long isoform)
  • GR
  • GR-alpha
  • Ik-3
  • Sp1
  • ZIC2

Genomic Locations for CBS Gene

Genomic Locations for CBS Gene
chr21:43,053,190-43,076,943
(GRCh38/hg38)
Size:
23,754 bases
Orientation:
Minus strand
chr21:44,473,301-44,497,053
(GRCh37/hg19)
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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for CBS Gene

InterPro:
Blocks:
  • Pyridoxal-5'-phosphate-dependent enzyme, beta family
  • CBS domain
ProtoNet:

Suggested Antigen Peptide Sequences for CBS Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53863, highly similar to Cystathionine beta-synthase (EC 4.2.1.22) (B7Z2D6_HUMAN)
  • Cysteine synthase (C9JMA6_HUMAN)
  • Serine sulfhydrase (CBS_HUMAN)
  • Cystathionine B synthase (Q5CCK6_HUMAN)
  • Cystathionine B synthase (Q5CCK7_HUMAN)

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

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).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=L-homocysteine + L-serine = H2O + L,L-cystathionine; Xref=Rhea:RHEA:10112, ChEBI:CHEBI:15377, ChEBI:CHEBI:33384, ChEBI:CHEBI:58161, ChEBI:CHEBI:58199; EC=4.2.1.22; Evidence={ECO:0000269|PubMed:20506325, ECO:0000269|PubMed:23974653, ECO:0000269|PubMed:23981774, ECO:0000269|PubMed:25044645};.
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).
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

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:0003824 catalytic activity IEA --
GO:0004122 cystathionine beta-synthase activity IDA 7929220
GO:0004124 cysteine synthase activity IBA --
GO:0005515 protein binding IPI 17087506
GO:0016829 lyase activity IEA --
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBS

Clone Products

  • Addgene plasmids for CBS

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 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 IBA,IDA 23981774
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with CBS: view

No data available for Subcellular locations from COMPARTMENTS for CBS Gene

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.

SIGNOR curated interactions for CBS Gene

Is activated by:

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

Drugs & Compounds for CBS Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cysteine Approved Nutra Target 250
Pyridoxal Phosphate Approved, Investigational Nutra Target, cofactor 16
Pyridoxine Approved, Investigational, Vet_approved Nutra 229,229
Ademetionine Approved, Investigational Nutra Target, activator 0
Water Approved Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
s-adenosylmethionine
  • (3S)-5'-[(3-amino-3-Carboxypropyl)methylsulfonio]-5'-deoxyadenosine, inner salt
  • [1-(Adenin-9-yl)-1,5-dideoxy-beta-D-ribofuranos-5-yl][(3S)-3-amino-3-carboxypropyl](methyl)sulfonium
  • Acylcarnitine
  • AdoMet
  • S-(5'-Deoxyadenosin-5'-yl)-L-methionine
485-80-3
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
  • L-(+)-Cystathionine
  • S-(beta-amino-beta-Carboxyethyl)homocysteine
  • S-(b-amino-b-Carboxyethyl)homocysteine
  • S-(β-amino-β-carboxyethyl)homocysteine
56-88-2
Selenocystathionine
  • 2-amino-4-[(2-amino-2-Carboxyethyl)selanyl]butyric acid
  • Selenocystathionines
  • 2-amino-4-[(2-amino-2-Carboxyethyl)selanyl]butyrate
  • 2-amino-4-((2-amino-2-Carboxyethyl)seleno)-butanoate
  • 2-amino-4-((2-amino-2-Carboxyethyl)seleno)-butanoic acid
2196-58-9
Selenohomocysteine
  • 2-amino-4-Selanyl-butanoate
  • 2-amino-4-Selanyl-butanoic acid
  • Se-selenocysteine
29412-93-9
genes like me logo Genes that share compounds with CBS: view

Transcripts for CBS Gene

mRNA/cDNA for CBS Gene

5 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBS

Clone Products

  • Addgene plasmids for CBS

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

Expression for CBS Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for CBS Gene



Protein tissue co-expression partners for CBS Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

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
Regions:
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

No data available for Evidence on tissue expression from TISSUES for CBS Gene

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 30 31
  • 99.33 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CBS 30 31
  • 87.78 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CBS 30 31
  • 86.87 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cbs 30
  • 82.75 (n)
Mouse
(Mus musculus)
Mammalia Cbs 30 31
  • 82.66 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CBS 31
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CBS 31
  • 72 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CBS 30 31
  • 74.18 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CBS 31
  • 74 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia cbs 30
  • 72.62 (n)
Str.1560 30
African clawed frog
(Xenopus laevis)
Amphibia cbs-prov 30
Zebrafish
(Danio rerio)
Actinopterygii cbsa 30 31
  • 69.21 (n)
OneToMany
cbsb 31
  • 69 (a)
OneToMany
wufq06c06 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14041 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000162 30
  • 60.28 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Cbs 30 31
  • 59.65 (n)
OneToOne
CG1753 32
  • 51 (a)
Worm
(Caenorhabditis elegans)
Secernentea F54A3.4 32
  • 55 (a)
C17G1.7 32
  • 44 (a)
K10H10.2 32
  • 38 (a)
F59A7.9 32
  • 36 (a)
cbs-2 31
  • 29 (a)
OneToMany
cbs-1 31
  • 27 (a)
OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AGR012C 30
  • 55.53 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CYS4 30 31 33 33
  • 51.01 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F09317g 30
  • 50.6 (n)
Rice
(Oryza sativa)
Liliopsida Os06g0564500 30
  • 47.4 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08216 30
  • 56.24 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.4303 31
  • 56 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.2405 30
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)
Aminode:
Evolutionary constrained regions (ECRs) for CBS: view image

Paralogs for CBS Gene

Paralogs for CBS Gene

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

  • CBS_HUMAN
  • C9JMA6_HUMAN
  • F5H2U1_HUMAN
  • H7C1W6_HUMAN
  • H7C2H4_HUMAN
  • H7C2W0_HUMAN
  • Q5CCK6_HUMAN
  • Q5CCK7_HUMAN
genes like me logo Genes that share paralogs with CBS: view

Variants for CBS Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBS Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
639664 Uncertain Significance: Classic homocystinuria 43,058,955(-) G/A MISSENSE_VARIANT
641139 Uncertain Significance: Classic homocystinuria 43,068,512(-) G/C MISSENSE_VARIANT
642590 Uncertain Significance: Classic homocystinuria 43,065,454(-) G/A MISSENSE_VARIANT
642728 Uncertain Significance: Classic homocystinuria 43,066,272(-) G/A MISSENSE_VARIANT
643284 Uncertain Significance: Classic homocystinuria 43,060,472(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for CBS Gene

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)

Additional Variant Information for CBS Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CBS Gene

MalaCards: The human disease database

(18) MalaCards diseases for CBS Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
homocystinuria due to cystathionine beta-synthase deficiency
  • homocystinuria with or without response to pyridoxine
homocystinuria
  • cbs deficiency
homocysteinemia
  • hyperhomocysteinemia
hypermethioninemia
  • mat deficiency
pyridoxine deficiency anemia
  • vitamin b6 deficiency syndrome
- 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

Additional Disease Information for CBS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23 41
  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 23
  3. 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 23 41
  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 23 41
  5. Homocysteine level and metabolism in ischemic stroke in the population of Northern Poland. (PMID: 19166826) Sawuła W … Banecki B (Clinical biochemistry 2009) 3 23 41

Products for CBS Gene

  • Signalway ELISA kits for CBS

Sources for CBS Gene