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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BHMT Gene

protein-coding GIFtS: 68
GCID: GC05P078443

betaine--homocysteine S-methyltransferase

Explore 39 diseases affiliated with
BHMT via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Betaine--Homocysteine S-Methyltransferase¹ ²
BHMT1¹ ²
EC 2.1.1.5³ ⁸
Betaine--Homocysteine S-Methyltransferase 1²
EC 2.1.1⁸

External Ids:	HGNC: 1047¹	Entrez Gene: 635²	Ensembl: ENSG00000145692⁷	OMIM: 602888⁵	UniProtKB: Q93088³

Export aliases for BHMT gene to outside databases

Previous GC identifers: GC05P077213 GC05P078644 GC05P078446 GC05P078491 GC05P073615

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

Entrez Gene summary for BHMT:

This gene encodes a cytosolic enzyme that catalyzes the conversion of betaine and homocysteine to dimethylglycine and

methionine, respectively. Defects in this gene could lead to hyperhomocyst(e)inemia, but such a defect has not yet

been observed. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088

Function: Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine

and methionine, respectively. This reaction is also required for the irreversible oxidation of choline

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006713.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the BHMT gene promoter:
Tal-1 FOXF2 AP-4 NF-kappaB Evi-1 GATA-2 S8 Sox9 NF-kappaB1 Hlf
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: BHMT promoter sequence

Search SABiosciences Chromatin IP Primers for BHMT

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BHMT

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

Entrez Gene cytogenetic band: 5q14.1 Ensembl cytogenetic band: 5q14.1 HGNC cytogenetic band: 5q14.1

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

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P078443: view genomic region (about GC identifiers)

Start:	78,407,602 bp from pter	End:	78,428,113 bp from pter
Size:	20,512 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088 (See protein sequence)

Recommended Name: Betaine--homocysteine S-methyltransferase 1

Size: 406 amino acids; 44998 Da

Cofactor: Binds 1 zinc ion per subunit

Subunit: Homotetramer

Subcellular location: Cytoplasm

2 PDB 3D structures from and Proteopedia for BHMT:

1LT7 (3D)

1LT8 (3D)

Secondary accessions: Q9UNI9

Explore the universe of human proteins at neXtProt for BHMT: NX_Q93088

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q93088

4/13 DME Specific Peptides for BHMT (Q93088) (see all 13)

RQVADEG

PSMSKPD

IARQVAD

KLMKEGL

BHMT Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001704.2

ENSEMBL proteins:

ENSP00000274353 ENSP00000428240

Reactome Protein details: Q93088
Human Recombinant Protein Products for BHMT:

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	Uscn Proteins for BHMT

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005829	cytosol	TAS	--
GO:0043234	protein complex	IEA	--

BHMT for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for BHMT

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

BHMT for domains About GeneDecksing

2 InterPro domains/families:

IPR017226 Betaine-hCys_S-MeTrfase_BHMT

IPR003726 S_MeTrfase

Graphical View of Domain Structure for InterPro Entry Q93088

ProtoNet protein and cluster: Q93088

1 Blocks protein family: IPB003726 Homocysteine S-methyltransferase

UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088

Similarity: Contains 1 Hcy-binding domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: BHMT1_HUMAN, Q93088

Function: Involved in the regulation of homocysteine metabolism. Converts betaine and homocysteine to dimethylglycine

and methionine, respectively. This reaction is also required for the irreversible oxidation of choline

Catalytic activity: Trimethylammonioacetate + L-homocysteine = dimethylglycine + L-methionine

Genatlas biochemistry entry for BHMT:

betaine-homocysteine methyltransferase,expressed in liver and kidney,sulfur aminoacid metabolism

Enzyme Numbers (IUBMB): EC 2.1.1.5¹ ² EC 2.1.1²

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008168	methyltransferase activity	--	--
GO:0008270	zinc ion binding	IEA	--
GO:0008898	homocysteine S-methyltransferase activity	IEA	--
GO:0032403	protein complex binding	IEA	--
GO:0047150	betaine-homocysteine S-methyltransferase activity	TAS	--

BHMT for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for BHMT:

Increased G1 DNA content

5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Bhmt):

growth/size

homeostasis/metabolism

liver/biliary system

renal/urinary system

tumorigenesis

BHMT for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Bhmt^tm1.2Zei for BHMT

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for BHMT

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate BHMT:
		hsa-miR-4307
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHMT

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Methionine metabolism

	Methionine metabolism	1.00			superpathway of methionine degradation	0.38
	Methionine metabolism	1.00

Sulfur amino acid metabolism

Sulfur amino acid metabolism

1.00

Cysteine and methionine metabolism

0.36

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

One Carbon Metabolism

One Carbon Metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for BHMT

Methionine metabolism

1 GeneGo (Thomson Reuters) Pathway for BHMT

Methionine metabolism

4 BioSystems Pathways for BHMT

	One Carbon Metabolism
	methionine salvage II (mammalia)
	glycine betaine degradation
	superpathway of methionine degradation

3 Reactome Pathways for BHMT

	Metabolism
	Sulfur amino acid metabolism
	Metabolism of amino acids and derivatives

3 Kegg Pathways (Kegg details for BHMT):

	Glycine, serine and threonine metabolism
	Cysteine and methionine metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088

Pathway: Amine and polyamine degradation; betaine degradation; sarcosine from betaine: step 1/2

Pathway: Amino-acid biosynthesis; L-methionine biosynthesis via de novo pathway; L-methionine from L-homocysteine (BhmT

route): step 1/1

BHMT for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for BHMT

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/23 Interacting proteins for BHMT (Q93088^{2, 3} ENSP00000274353⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
BBS2	Q9BXC9³, ENSP00000245157⁴	I2D: score=1 STRING: ENSP00000245157
BBS4	Q96RK4³, ENSP00000268057⁴	I2D: score=1 STRING: ENSP00000268057
ALDH16A1	Q8IZ83³	I2D: score=1
BBS1	Q8NFJ9³	I2D: score=1
NR3C1	P04150³	I2D: score=1

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000096	sulfur amino acid metabolic process	TAS	--
GO:0006479	protein methylation	NAS	10075673
GO:0006579	amino-acid betaine catabolic process	IEA	--
GO:0009086	methionine biosynthetic process	IEA	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--

BHMT for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BHMT for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BHMT

9 HMDB Compounds for BHMT About this table

Compound	Synonyms	CAS #	PubMed Ids
Betaine	(Carboxymethyl)trimethylammonium hydroxide inner salt (see all 31)	107-43-7	--
Dimethylglycine	(Dimethylamino)acetate (see all 9)	1118-68-9	--
Homocysteine	(+-)-homocysteine (see all 22)	454-29-5	--
L-Methionine	(2S)-2-amino-4-(methylsulfanyl)butanoic acid (see all 54)	63-68-3	--
N1-Acetylspermine	N'-Acetylspermine (see all 6)	25593-72-0	--
Norspermidine	N-(3-aminopropyl)-1,3-Propanediamine (see all 28)	56-18-8	--
Putrescine	1,4-Butanediamine (see all 8)	110-60-1	--
Spermidine	1,5,10-Triazadecane (see all 15)	124-20-9	--
Spermine	1,5,10,14-Tetraazatetradecane (see all 18)	71-44-3	--

3 DrugBank Compounds for BHMT About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Methionine	(S)-2-amino-4-(methylthio)butanoic acid (see all 6)	63-68-3	target	product of	17513393 17389618 16396637 16920841 17350061
Citric Acid	--	77-92-9	target	--	17139284 17016423
S-(D-Carboxybutyl)-L-Homocysteine	--	--	target	--	17139284 17016423

10/15 Novoseek chemical compound relationships for BHMT gene (see all 15) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dimethylglycine	94.3	17	11380830 (2), 15122900 (1), 16038618 (1), 18230605 (1) (see all 8)
betaine	90.8	43	18230605 (4), 16038618 (2), 17218476 (2), 17175148 (2) (see all 22)
homocysteine	86.4	80	15122900 (3), 15006639 (3), 16789755 (3), 17086380 (3) (see all 30)
methionine	81.3	64	10075673 (5), 15122900 (2), 17376725 (2), 8798461 (1) (see all 27)
cystathionine	79.3	8	11131452 (1), 14752013 (1), 1692235 (1), 1445498 (1) (see all 6)
trigonelline	71.6	1	15006639 (1)
choline	60.9	6	10075673 (2), 17885002 (1), 11087663 (1), 11223523 (1)
folate	60.8	9	17035141 (2), 15941890 (1), 14752013 (1), 17389618 (1) (see all 5)
s-adenosylmethionine	54.7	8	8836329 (2), 16953798 (2), 18230605 (1)
vitamin b6	48.1	1	17284634 (1)

Search CenterWatch for drugs/clinical trials and news about BHMT / BHMT1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for BHMT gene:

NM_001713.2

Unigene Cluster for BHMT:

Betaine--homocysteine S-methyltransferase

Hs.80756 [show with all ESTs]

Unigene Representative Sequence: NM_001713

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000274353(uc003kfu.4 uc011cti.2) ENST00000524080 ENST00000520335

ENST00000520703 ENST00000523508 ENST00000521279

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		hsa-miR-4307
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		GenScript: all cDNA clones in your preferred vector: BHMT (NM_001713)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BHMT

Additional cDNA sequence:

AK298308.1 AK303780.1 AK315224.1 BC012616.1 U50929.1

13 DOTS entries:

DT.95366674 DT.417066 DT.120889506 DT.120889227 DT.417067 DT.100748739 DT.120889441 DT.91756897

DT.100748736 DT.417068 DT.120889264 DT.65284012 DT.120889290

24/138 AceView cDNA sequences (see all 138):

CB142728 AI244216 BC012616 AI299252 AV661571 AI866524 AI373376 CB148997

BM680551 R98132 AI133658 AI244533 BM722555 BM678994 N69529 CR620701

BM718102 BM722481 BM714863 AL531105 BX507308 AI309719 AA983313 BG402366

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BHMT expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGCTTTCTA

About this image

BHMT expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Testis

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See BHMT Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BHMT

SOURCE GeneReport for Unigene cluster: Hs.80756

UniProtKB/Swiss-Prot: BHMT1_HUMAN, Q93088

Tissue specificity: Found exclusively in liver and kidney

SABiosciences Expression via Pathway-Focused PCR Arrays including BHMT:

Nephrotoxicity in human mouse rat

Amino Acid Metabolism II in human mouse rat

Amino Acid Metabolism I in human mouse rat

Hepatotoxicity in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BHMT

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for BHMT gene from 5/18 species (see all 18) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Bhmt^{1 , 5}	betaine-homocysteine methyltransferase^{1, 5}	88.07(n)¹ 94.57(a)¹		13 (47.87 cM)⁵ 12116¹ NM_016668.3¹ NP_057877.1¹ 93616891⁵
chicken (Gallus gallus)	Aves	BHMT¹	betaine--homocysteine S-methyltransferase	78.96(n) 86.87(a)		416371 XM_414685.2 XP_414685.1
lizard (Anolis carolinensis)	Reptilia	BHMT⁶	--	82(a)	1 → many	2(12969460-12974630)
African clawed frog (Xenopus laevis)	Amphibia	Xl.21139²	Xenopus laevis transcribed sequence with moderate similarity more	75.52(n)		BU900482.1
zebrafish (Danio rerio)	Actinopterygii	bhmt¹	betaine-homocysteine methyltransferase	70.59(n) 78.2(a)		322228 NM_001012480.1 NP_001012498.1

ENSEMBL Gene Tree for BHMT (if available)
TreeFam Gene Tree for BHMT (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for BHMT gene

BHMT2²

1 SIMAP similar gene for BHMT using alignment to 2 protein entries: BHMT1_HUMAN (see all proteins):

BHMT2

BHMT for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs600473^1,2	C,F,H	--	78405673(-)	`AAGAAA/CAAACA`	1	--	us2k¹ tfbs³		11		NS EA NA WA	786
rs185416300^1,2		--	78405678(+)	`GTTCTC/TGGAGA`	1	--	us2k¹		0	--	--	--	--
rs118000477^1,2	F	--	78405796(+)	`TTTGCC/TACATT`	1	--	us2k¹		1		EA	120
rs188217897^1,2		--	78405848(+)	`TTGAGC/TGTTAG`	1	--	us2k¹		0	--	--	--	--
rs143570679^1,2		--	78405888(+)	`ACCCAA/CGACTG`	1	--	us2k¹		0	--	--	--	--
rs3756547^1,2	C,F,H	--	78405975(+)	`AACTAG/ATTAAC`	1	--	us2k¹ tfbs³		4		NS EA	414
rs3756548^1,2	C,F,H	--	78406032(+)	`CAAGGT/CGTTTT`	1	--	us2k¹		19		NA NS EA WA CSA	2357
rs180733079^1,2		--	78406097(+)	`CTGACC/TCCAGA`	1	--	us2k¹		0	--	--	--	--
rs78560331^1,2	C,F	--	78406111(+)	`CAGTTG/AGGGGT`	1	--	us2k¹		1		WA	118
rs140609578^1,2		--	78406238(+)	`CAGTTC/GTATTT`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BHMT (78407602 - 78428113 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for BHMT
4 CNVs: 93104 93105 36431 80961
Human Gene Mutation Database (HGMD): BHMT

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BHMT

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

BHMT for disorders           About GeneDecksing

OMIM gene information: 602888    OMIM disorders: --

20/39 diseases for BHMT (see all 39):    About MalaCards

homocysteine diffuse large b-cell lymphoma neural tube defect spina bifida

cleft lip +/- cleft palate b-cell lymphomas abdominal aortic aneurysm placental abruption

cleft lip non-hodgkin lymphoma cleft palate aortic aneurysm

orofacial cleft congenital heart defect homocystinuria liver cirrhosis

hodgkin's lymphoma hyperhomocysteinemia vascular disease follicular lymphoma

1 disease from the University of Copenhagen DISEASES database for BHMT:

Hyperhomocysteinemia

8 Novoseek disease relationships for BHMT gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hyperhomocysteinemia	70	9	11073719 (4), 11380830 (2), 20069651 (2)
homocystinuria	60.6	2	15006639 (1)
vascular diseases	43.5	3	11073719 (2)
spina bifida	42.5	10	15887275 (3), 19493349 (2), 12749058 (1)
cardiovascular diseases	17.4	3	17086380 (1), 12818402 (1)
hepatocellular carcinoma	14.7	2	11131452 (1)
liver cirrhosis	9.68	1	11131452 (1)
renal failure chronic	7.02	2	15006639 (1)

Genetic Association Database (GAD): BHMT
Human Genome Epidemiology (HuGE) Navigator: BHMT (49 documents)

Export disorders for BHMT gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for BHMT gene, integrated from 9 sources (see all 124):
(articles sorted by number of sources associating them with BHMT)

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Betaine-homocysteine methyltransferase expression in porcine and human tissues and chromosomal localization of the human gene. (PubMed id 9281325)^{1, 2, 3, 9} Sunden S.L.F....Garrow T.A. (1997)
Investigations of a common genetic variant in betaine-homocysteine methyltransferase (BHMT) in coronary artery disease. (PubMed id 12818402)^{1, 2, 4, 9} Weisberg I.S.... Rozen R. (2003)
Purification, kinetic properties, and cDNA cloning of mammalian betaine-homocysteine methyltransferase. (PubMed id 8798461)^{1, 2, 3, 9} Garrow T.A. (1996)
Interaction between dietary methionine and methyl donor intake on rat liver betaine-homocysteine methyltransferase gene expression and organization of the human gene. (PubMed id 10075673)^{1, 2, 9} Park E.I. and Garrow T.A. (1999)
Common variant in betaine-homocysteine methyltransferase (BHMT) and risk for spina bifida. (PubMed id 12749058)^{1, 4, 9} Morin I....Rozen R. (2003)
Betaine-homocysteine methyltransferase: zinc in a distorted barrel. (PubMed id 12220488)^{1, 2, 9} Evans J.C.... Ludwig M.L. (2002)
Human betaine-homocysteine methyltransferase is a zinc metalloenzyme. (PubMed id 9681996)^{1, 2, 9} Millian N.S. and Garrow T.A. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Inhibition of human betaine-homocysteine methyltransferase expression by S-adenosylmethionine and methylthioadenosine. (PubMed id 16953798)^{1, 9} Ou X.... Lu S.C. (2007)
Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization. (PubMed id 18457970)^{1, 9} Li F....Weinshilboum R.M. (2008)

(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: 635	HGNC: 1047	AceView: BHMT	Ensembl:ENSG00000145692	euGenes: HUgn635
ECgene: BHMT	Kegg: 635	H-InvDB: BHMT

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for BHMT	Pharmacogenomics, SNPs, Pathways

Intellectual Property for BHMT gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for BHMT gene:
Search GeneIP for patents involving BHMT

GeneCards and IP:
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betaine--homocysteine S-methyltransferase

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betaine--homocysteine S-methyltransferase

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