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CBS Gene

protein-coding GIFtS: 71

GC21M029891

cystathionine-beta-synthase
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase, and/or ⁹Nature:405,311-319 and CroW21)
About This Section

Aliases & Descriptions
cystathionine-beta-synthase¹ ²		cystathionine beta-synthase²
HIP4¹ ²		methylcysteine synthase²
Serine sulfhydrase² ³		Beta-thionase³
OTTHUMP00000109416²		EC 4.2.1.22³
beta-thionase²		human cystathionine-beta-synthase, EC 4.2.1.229

External Ids:	HGNC: 1550¹	Entrez Gene: 875²	Ensembl: ENSG00000160200⁷	UniProtKB: P35520³

Export aliases for CBS gene to outside databases

Previous GC identifers: GC21M041021 GC21M043367 GC21M043346 GC21M044473

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CBS:

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. Multiple alternatively spliced transcript variants have been found for this

gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

Function: Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide,

especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen

sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the

brain to protect neurons against hypoxic injury (By similarity)

Gene Wiki entry for CBS (Cystathionine beta synthase)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CBS gene promoter:
         GR-alpha   Sp1   GR-beta   E47   Meis-1   STAT5A   AP-4   CUTL1   CP1A   CP1C
         Other transcription factors

Search SABiosciences Chromatin IP Primers for CBS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CBS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.3 Ensembl cytogenetic band: 21q22.3 HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band: 21q22.3

CBS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBS gene location

GeneLoc gene densities for chromosome 21 GeneLoc Exon Structure

(about GC identifiers)

GC21M029891:	GeneLoc	Nature:405,311-319
Start:	29,891,797 bp from pter	30,020,629 bp from centromere
End:	29,914,621 bp from pter	30,035,840 bp from centromere
Size:	22,825 bases	15,212 bases
Orientation:	minus strand	minus strand

1 alternative location:

Chr21- 44,473,301-44,497,053

RefSeq DNA sequence:

NC_000021.8 NT_011515.12

Whole chromosome sequencing:
cDNA sequence:	L00972
genomic clones:	KB1151C12 KB2007G4

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520 (See protein sequence)

Recommended Name: Cystathionine beta-synthase

Size: 551 amino acids; 60587 Da

Cofactor: Pyridoxal phosphate

Subunit: Homotetramer

Subcellular location: Cytoplasm. Nucleus

PDB structure from and Proteopedia :

1JBQ (3D)

1M54 (3D)

Secondary accessions: B2R993 Q99425 Q9BWC5

Alternative splicing: 2 isoforms: P35520-1 P35520-2

Explore the universe of human proteins at neXtProt for CBS: NX_P35520

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000062.1 NP_001171479.1 NP_001171480.1

ENSEMBL proteins:

ENSP00000405929 ENSP00000381234 ENSP00000402823 ENSP00000352643 ENSP00000381231 ENSP00000344460

ENSP00000388235 ENSP00000381225 ENSP00000408014

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: CBS OriGene Protein Over-expression Lysate: CBS
	GenScript Custom Purified and Recombinant Proteins Services for CBS
	Novus Biologicals Proteins for CBS
	Novus Biologicals Lysates for CBS
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

5/6 Gene Ontology (GO) cellular component terms (GO ID links to tree view) (see all 6):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005625	soluble fraction	--	--
GO:0005634	nucleus	IDA	17087506
GO:0005730	nucleolus	IDA	18029348
GO:0005737	cytoplasm	IEA	--
GO:0005829	cytosol	IDA	16780588

About this table

CBS for ontologies About GeneDecksing

Antibodies for CBS:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for CBS
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for CBS
	Novus Biologicals Antibodies for CBS
	Epitomics antibodies for CBS

Assays for CBS:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CBS
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CBS for domains About GeneDecksing

4 InterPro domains/families:

IPR005857 Cysta_beta_synth

IPR000644 Cysta_beta_synth_core

IPR001216 Cys_synth_BS

IPR001926 PyrdxlP-dep_enz_bsu

Graphical View of Domain Structure for InterPro Entry P35520

ProtoNet protein and cluster: P35520

2 Blocks protein families:

IPB000644 CBS domain

IPB001926 Pyridoxal-5'-phosphate-dependent enzyme

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

Similarity: Belongs to the cysteine synthase/cystathionine beta-synthase family

Similarity: Contains 1 CBS domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

Function: Only known pyridoxal phosphate-dependent enzyme that contains heme. Important regulator of hydrogen sulfide,

especially in the brain, utilizing cysteine instead of serine to catalyze the formation of hydrogen sulfide. Hydrogen

sulfide is a gastratransmitter with signaling and cytoprotective effects such as acting as a neuromodulator in the

brain to protect neurons against hypoxic injury (By similarity)

Catalytic activity: L-serine + L-homocysteine = L-cystathionine + H(2)O

Enzyme regulation: Allosterically activated by adenosyl-methionine (AdoMet)

Enzyme Number (IUBMB): EC 4.2.1.22

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CBS Sigma-Aldrich shRNA for CBS
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CBS OriGene shRNA RFP (see all 3): CBS OriGene basic RS shRNA (see all 3): CBS OriGene siRNA (see all 3): CBS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CBS

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CBS
		Search SABiosciences for Assays for microRNAs that regulate CBS

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): CBS OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): CBS OriGene untagged cDNA clones in CMV expression vector (see all 2): CBS OriGene 3'-UTR clone: CBS Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for CBS
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for CBS

Genatlas biochemistry entry for CBS:

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

5/11 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 11):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0004122	cystathionine beta-synthase activity	IDA	19010420
GO:0005515	protein binding	IPI	17087506
GO:0016829	lyase activity	IEA	--
GO:0019899	enzyme binding	IPI	17087506

About this table

CBS for ontologies About GeneDecksing

Animal Models: 15/21 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Cbs) (see all 21):

behavior/neurological	cardiovascular system	cellular	craniofacial	embryogenesis
endocrine/exocrine gland	growth/size	hematopoietic system	homeostasis/metabolism	immune system
lethality-postnatal	life span-post-weaning/aging	limbs/digits/tail	liver/biliary system	muscle

CBS for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

CBS for pathways About GeneDecksing

1 Millipore Pathway for CBS

Methionine metabolism

3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for CBS

	Selenoamino Acid Metabolism
	Glycine, Serine and Threonine Metabolism
	Methionine Metabolism

4 Kegg Pathways (Kegg details for CBS):

	hsa00260 Glycine, serine and threonine metabolism
	hsa00270 Cysteine and methionine metabolism
	hsa00450 Selenoamino acid metabolism
	hsa01100 Metabolic pathways

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

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

    SABiosciences Custom Pathway-Focused PCR Arrays for CBS

  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for CBS
  SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CBS

5/23 Interacting proteins for CBS (P35520^{1, 2} ENSP00000344460³) via UniProtKB, MINT, and/or STRING (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CBS	P35520¹^,²	EBI-740135,EBI-740135 MINT-68447
FXR2	P51116²	MINT-66773
VTA1	Q9NP79²	MINT-66058
AHCY	ENSP00000217426³	STRING: ENSP00000217426
BHMT	ENSP00000274353³	STRING: ENSP00000274353

About this table

5/16 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 16):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001958	endochondral ossification	--	--
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	--	--

About this table

CBS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

CBS for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CBS
10/63 Novoseek chemical compound relationships for CBS gene (see all 63)

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cystathionine	99.2	1037	10052944 (7), 2011158 (5), 11042162 (4), 11742888 (4) (see all 99)
homocysteine	94.4	421	17971175 (5), 9357926 (4), 10363126 (4), 12529702 (4) (see all 99)
methionine	87.7	226	8134195 (3), 17937607 (3), 10954028 (2), 11216902 (2) (see all 99)
vitamin b6	85.8	49	9928444 (2), 9361025 (2), 7981678 (2), 15365998 (2) (see all 27)
folate	84.4	75	10833331 (3), 19633202 (2), 11569694 (2), 11585023 (2) (see all 49)
pyridoxal 5-phosphate	81.9	76	10052942 (5), 7929220 (4), 10052944 (4), 11042162 (1) (see all 27)
s-adenosylmethionine	81.5	91	16614071 (5), 11524006 (4), 8755636 (4), 16953589 (4) (see all 34)
betaine	76.8	21	12828591 (2), 15017331 (2), 9211201 (1), 9357926 (1) (see all 13)
vitamin b12	76.2	20	9235230 (1), 11481906 (1), 17686644 (1), 10758367 (1) (see all 15)
propargylglycine	75.4	4	19631409 (2), 17101327 (1)

About this table

1 PharmGKB drug compound relationship for CBS gene

Drug compound	PharmGKB Relations	PubMed IDs for articles supporting these relationships
pyridoxine	PD FA GN	12124992

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for CBS Sigma-Aldrich shRNA for CBS
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 3): CBS OriGene shRNA RFP (see all 3): CBS OriGene basic RS shRNA (see all 3): CBS OriGene siRNA (see all 3): CBS
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CBS

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CBS
		Search SABiosciences for Assays for microRNAs that regulate CBS

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): CBS OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): CBS OriGene untagged cDNA clones in CMV expression vector (see all 2): CBS OriGene 3'-UTR Clone: CBS Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for CBS

Primers:		OriGene genome-wide validated SYBR primer pairs: CBS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for CBS: PPH13484A

REFSEQ mRNAs for CBS gene (3 alternative transcripts):

NM_000071.2 NM_001178008.1 NM_001178009.1

Additional cDNA sequence:

AK294608.1 AK301063.1 AK313691.1 AL137314.1 BC000440.2 BC007257.1 BC010242.1 BC011381.1

BC012319.1 BT007154.1 CR605513.1 CR613114.1 CR624541.1 L00972.1 L14577.1 L19501.1

X82166.1

21 DOTS entries:

DT.452726 DT.100810615 DT.97859672 DT.100810602 DT.100810619 DT.121131733 DT.121131732 DT.100810621

DT.70103884 DT.121131710 DT.121131727 DT.75182069 DT.95149090 DT.100810612 DT.100810614 DT.121131709

DT.91646095 DT.95149085 DT.97859673 DT.99995100 DT.121131717

24/312 AceView cDNA sequences (see all 312):

AI494305 BQ720498 BM478198 BQ691794 BX101034 D16995 AI368618 CR613114

BE252944 CD672229 N54505 AA643208 CB162041 AI494295 AI668772 CR605513

AI369768 BF507816 AL522542 BI793125 BU552809 BQ225465 BU508699 CD674556

highest scoring ESTs for CBS:

BC007257 L00972 L19501 AA057541 AA057714 AA063180 AA063294 AA136339 AA136426 AA171511

Unigene Cluster for CBS:

Cystathionine-beta-synthase

Hs.533013 [show with all ESTs]

Unigene Representative Sequence: L00972

GeneLoc Exon Structure

5/18 Alternative Splicing Database (ASD) splice patterns (SP) for CBS (see all 18)

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:																																																	-

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:	-						-								-		-												-

About this scheme

ECgene alternative splicing isoforms for CBS
18 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000430013 ENST00000488526 ENST00000398168 ENST00000465732 ENST00000470912

ENST00000496485 ENST00000451248 ENST00000461686(uc002zcs.1) ENST00000359624(uc002zcw.3)

ENST00000486098 ENST00000462349 ENST00000478709 ENST00000491776(uc002zcx.2)

ENST00000398165(uc002zcu.2 uc002zct.2) ENST00000352178(uc002zcv.2)

ENST00000441030 ENST00000398158 ENST00000458223

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

CBS expression in normal and diseased human tissues

¹ / ² / ³

6 probe-sets matching CBS gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38474_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	L00972	0.80	1.00	0.91	1
212816_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE613178	0.60	1.00	0.82	1
240517_at²^{, 3}	U133-B	1	0.36	1.00	--	--	BF507816	0.40	1.00	0.76	1
1553972_a_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
212816_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
240517_at²	U133Plus2	1	0.36	1.00	--	--	--	--	--	--	--

About this table

CBS for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: GCTTCCTAAA

SOURCE GeneReport for Unigene cluster: Hs.533013

Expression variation in blood from EXPOLDB for CBS

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

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

Primers:		OriGene genome-wide validated SYBR primer pairs: CBS Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for CBS: PPH13484A

SABiosciences Custom PCR Arrays for CBS

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for CBS gene from 5/20 species (see all 20)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	CBS¹	--	cystathionine-beta-synthase	86.16(n) 86.91(a)	611071 XM_848703.1 XP_853796.1
chimpanzee (Pan troglodytes)	CBS¹	--	cystathionine-beta-synthase	99.27(n) 99.27(a)	736626 XM_001142443.1 XP_001142443.1
cow (Bos taurus)	CBS¹	--	cystathionine-beta-synthase	87.54(n) 87.11(a)	514525 XM_592392.3 XP_592392.2
rat (Rattus norvegicus)	Cbs¹	--	cystathionine beta synthase	82.69(n) 84.28(a)	24250 NM_012522.1 NP_036654.1
mouse (Mus musculus)	Cbs^{1 , 5}	17 (16.93 cM)⁵	cystathionine beta-synthase^{1, 5}	82.72(n)¹ 84.8(a)¹	12411¹ NM_178224.2¹ NP_835742.1¹ AC084065⁵ AI047524⁵ (see all 22)

About this table Species with no ortholog for CBS

ENSEMBL Gene Tree for CBS (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 21 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs12613^1,2	C,F,A,	44473691(-)	`ACTGCG/ACAGAG`	3	--	ut3¹ ese³		17	MN NS EA NA WA	1284
rs234701^1,2	C,H,	44476759(+)	`GGCCCG/AGGCAT`	3	--	int¹		10	MN NA EA WA	358
rs234702^1,2	C,H,	44477543(+)	`AGCCTC/GCTCTC`	3	--	int¹		11	MN NS NA EA WA	568
rs234703^1,2	--	44478000(+)	`GTGACC/TGGGCA`	3	--	int¹		1	NA	2
rs234704^1,2	C,	44480283(+)	`AGGAGG/AGACAG`	3	--	int¹		5	MN NA EA	348
rs234705^1,2	C,F,A,H,	44483772(+)	`CTCAGC/TGCAGG`	3	--	int¹		28	MN NS EA NA WA	2940
rs234706^1,2	C,F,A,H,	44485350(+)	`GTGTCA/GTAGTG`	6	Y	ref¹ syn¹ ese³		35	EA NA MN NS WA	3304
rs234707^1,2	C,F,A,H,	44486271(+)	`GCTCAT/GCCATC`	3	--	int¹		3	NA	6
rs234708^1,2	C,A,H,	44486324(+)	`AGCCCT/CGGCCA`	3	--	int¹		3	NA WA	76
rs234709^1,2	C,F,A,H,	44486964(+)	`CTCCTC/TCCCCT`	3	--	int¹ trp³		9	NS NA EA WA	290

About this table

HapMap Linkage Disequilibrium images for CBS (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CBS: --

QIAGEN SeqTarget long-range PCR primers for resequencing CBS

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CBS for disorders About GeneDecksing

OMIM: 613381 disorders: 236200

UniProtKB/Swiss-Prot: CBS_HUMAN, P35520

Defects in CBS are the cause of cystathionine beta-synthase deficiency (CBSD) [MIM:236200]. CBSD is 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

10/64 Novoseek disease relationships for CBS gene (see all 64)

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
homocystinuria	97.4	249	8744616 (4), 11338767 (3), 14744647 (3), 12007221 (3) (see all 99)
hyperhomocysteinemia	91.9	86	2011158 (4), 15386278 (3), 18987302 (2), 16375773 (2) (see all 51)
hypermethioninemia	85.8	6	12765841 (1), 10674710 (1), 15972722 (1)
ectopia lentis	81.5	2	11596648 (1), 10564686 (1)
homocysteinemia	81.4	7	9587026 (1), 2407253 (1), 1445498 (1), 8364009 (1) (see all 6)
vascular diseases	73.7	35	2011158 (3), 11216902 (2), 9712328 (2), 9848890 (2) (see all 23)
folate deficiency	71	8	2007933 (1), 11569694 (1), 16575899 (1), 8364009 (1) (see all 6)
neural tube defects	67.1	5	9712534 (1), 10517251 (1), 12725044 (1), 9084933 (1)
down syndrome	60.4	28	11391481 (2), 16541333 (2), 16115349 (1), 11415440 (1) (see all 13)
mental retardation	55.8	11	11596648 (1), 14744647 (1), 16160063 (1), 16274669 (1) (see all 8)

About this table

2 PharmGKB disease relationships for CBS gene

Disease	PharmGKB Relations	PubMed IDs for articles supporting these relationships
Homocystinuria	PD FA GN	12124992
Hyperhomocysteinemia	GN	10704624 10704624

About this table

Genatlas disease: CBS

homocystinuria,pyridoxine responsive or not responsive forms,neural tube defect,no evidence of association with NTD in

Netherlands and U.K.,interacting with huntingtin

GeneTests: CBS

Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency

Locus Specific Mutation Databases (LSDB): CBS
Human Gene Mutation Database (HGMD): CBS
Genetic Association Database (GAD): CBS
Human Genome Epidemiology (HuGE) Navigator: CBS (162 documents)

Export disorders and mutations for CBS gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

Baxter Receives Health Canada Approval for Advate(R) [Antihemophilic Factor (Recombinant)

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/605 PubMed articles for CBS gene, integrated from 7 sources (see all 605):
(articles sorted by number of sources associating them with CBS)

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. (PubMed id 9790750)^{1, 2, 3, 7} Kraus J.P.... Kozich V. (1998)
A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. (PubMed id 7611293)^{1, 2, 4, 7} Shih V.E.... Ramesh V. (1995)
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment. (PubMed id 12124992)^{1, 2, 5} Gaustadnes M.... Wilcken D.E. (2002)
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations. (PubMed id 12007221)^{1, 2, 7} Maclean K.N.... Kraus J.P. (2002)
Human cystathionine beta-synthase is a target for sumoylation. (PubMed id 17087506)^{1, 2, 7} Kabil O.... Banerjee R. (2006)
A 31 bp VNTR in the cystathionine beta-synthase (CBS) gene is associated with reduced CBS activity and elevated post-load homocysteine levels. (PubMed id 11528503)^{1, 4, 7} Lievers K.J....Blom H.J. (2001)
Cystathionine beta-synthase polymorphisms and hyperhomocysteinaemia: an association study. (PubMed id 12529702)^{1, 4, 7} Lievers K.J....Blom H.J. (2003)
A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene. (PubMed id 8528202)^{1, 2, 7} Kruger W.D. and Cox D.R. (1995)
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta- synthase using an improved bacterial expression system. (PubMed id 7981678)^{1, 2, 7} de Franchis R.... Kraus J.P. (1994)
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes. (PubMed id 8022826)^{1, 2, 7} Kruger W.D. and Cox D.R. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 875	HGNC: 1550	AceView: CBS	Ensembl:ENSG00000160200	euGenes: HUgn875
ECgene: CBS	Kegg: 875	H-InvDB: CBS

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for CBS	Genetics and Cytogenetics in Oncology and Haematology
CBS mutation database	http://cbs.lf1.cuni.cz/index.php
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CBS

Intellectual Property for CBS gene
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Patent Information for CBS gene:
Search GeneIP for patents involving CBS

GeneCards and IP:
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CBS Gene

protein-coding GIFtS: 71

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