CleftGeneDB-Search

Gene: BHMT2

Basic information

Tag	Content
Uniprot ID	Q9H2M3; B7Z516; Q9NXX7;
Entrez ID	23743
Genbank protein ID	AAG41356.1; BAH12752.1; BAA90880.1; AAH20665.1;
Genbank nucleotide ID	NM_001178005.1; NM_017614.4;
Ensembl protein ID	ENSP00000255192; ENSP00000430278;
Ensembl nucleotide ID	ENSG00000132840
Gene name	S-methylmethionine--homocysteine S-methyltransferase BHMT2
Gene symbol	BHMT2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	20662904
Functional description	Involved in the regulation of homocysteine metabolism. Converts homocysteine to methionine using S-methylmethionine (SMM) as a methyl donor.
Sequence	MAPAGRPGAK KGILERLESG EVVIGDGSFL ITLEKRGYVK AGLWTPEAVI EHPDAVRQLH 60 MEFLRAGSNV MQTFTFSASE DNMESKWEDV NAAACDLARE VAGKGDALVA GGICQTSIYK 120 YQKDEARIKK LFRQQLEVFA WKNVDFLIAE YFEHVEEAVW AVEVLKESDR PVAVTMCIGP 180 EGDMHDITPG ECAVRLVKAG ASIVGVNCRF GPDTSLKTME LMKEGLEWAG LKAHLMVQPL 240 GFHAPDCGKE GFVDLPEYPF GLESRVATRW DIQKYAREAY NLGVRYIGGC CGFEPYHIRA 300 IAEELAPERG FLPPASEKHG SWGSGLDMHT KPWIRARARR EYWENLLPAS GRPFCPSLSK 360 PDF 363

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	BHMT2	488934	E2RSV3	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	BHMT2		A0A452GA59	Capra hircus	Prediction	More>>
1:1 ortholog	BHMT2	23743	Q9H2M3	Homo sapiens	Publication	More>>
1:1 ortholog	Bhmt2	64918	Q91WS4	Mus musculus	Prediction	More>>
1:1 ortholog	BHMT2		A0A2I3TLY8	Pan troglodytes	Prediction	More>>
1:1 ortholog	bhmt-2	100523776	E7D6R3	Sus scrofa	Prediction	More>>
1:1 ortholog	Bhmt2		F1LMG2	Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
BHMT2	rs625879G>T	PCR-RFLP	20662904
BHMT2	rs673752C>T	PCR-RFLP	20662904

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1186574873	p.Ala2Thr	missense variant	-	NC_000005.10:g.79069786G>A	TOPMed,gnomAD
rs13189440	p.Ala4Asp	missense variant	-	NC_000005.10:g.79069793C>A	gnomAD
rs1010004996	p.Arg6Pro	missense variant	-	NC_000005.10:g.79069799G>C	TOPMed,gnomAD
rs750536578	p.Pro7Leu	missense variant	-	NC_000005.10:g.79069802C>T	ExAC
rs1043158306	p.Gly8Val	missense variant	-	NC_000005.10:g.79069805G>T	TOPMed
rs370147287	p.Ala9Ser	missense variant	-	NC_000005.10:g.79069807G>T	ESP,TOPMed,gnomAD
rs370147287	p.Ala9Thr	missense variant	-	NC_000005.10:g.79069807G>A	ESP,TOPMed,gnomAD
rs1169286120	p.Ala9Asp	missense variant	-	NC_000005.10:g.79069808C>A	gnomAD
rs1463759330	p.Lys10Gln	missense variant	-	NC_000005.10:g.79069810A>C	TOPMed
rs1401941957	p.Lys11Glu	missense variant	-	NC_000005.10:g.79069813A>G	TOPMed
rs758118459	p.Gly12Arg	missense variant	-	NC_000005.10:g.79077480G>A	ExAC,TOPMed,gnomAD
rs145187884	p.Ile13Met	missense variant	-	NC_000005.10:g.79077485T>G	ESP,ExAC,TOPMed,gnomAD
rs534723307	p.Arg16His	missense variant	-	NC_000005.10:g.79077493G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751383805	p.Arg16Cys	missense variant	-	NC_000005.10:g.79077492C>T	ExAC,TOPMed,gnomAD
rs1471398559	p.Ser19Asn	missense variant	-	NC_000005.10:g.79077502G>A	gnomAD
rs1363554879	p.Gly20Trp	missense variant	-	NC_000005.10:g.79077504G>T	gnomAD
rs745337209	p.Val23Leu	missense variant	-	NC_000005.10:g.79077513G>T	ExAC,gnomAD
rs1400202076	p.Ile24Asn	missense variant	-	NC_000005.10:g.79077517T>A	TOPMed,gnomAD
rs1400202076	p.Ile24Thr	missense variant	-	NC_000005.10:g.79077517T>C	TOPMed,gnomAD
COSM421176	p.Gly25Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79077520G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly25Ter	stop gained	-	NC_000005.10:g.79077519G>T	NCI-TCGA
rs755716390	p.Ser28Ile	missense variant	-	NC_000005.10:g.79077529G>T	ExAC,gnomAD
rs1357660595	p.Phe29Ser	missense variant	-	NC_000005.10:g.79077532T>C	gnomAD
NCI-TCGA novel	p.Leu30Ile	missense variant	-	NC_000005.10:g.79077534C>A	NCI-TCGA
rs368668984	p.Thr32Ile	missense variant	-	NC_000005.10:g.79077541C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr32Pro	missense variant	-	NC_000005.10:g.79077540A>C	NCI-TCGA
NCI-TCGA novel	p.Glu34Lys	missense variant	-	NC_000005.10:g.79077546G>A	NCI-TCGA
rs1037814193	p.Lys35Glu	missense variant	-	NC_000005.10:g.79077549A>G	TOPMed
rs1161141998	p.Arg36Thr	missense variant	-	NC_000005.10:g.79077553G>C	TOPMed
rs1473554828	p.Tyr38Phe	missense variant	-	NC_000005.10:g.79077559A>T	TOPMed
rs1180801070	p.Val39Gly	missense variant	-	NC_000005.10:g.79077562T>G	TOPMed
rs748545629	p.Ala41Ser	missense variant	-	NC_000005.10:g.79077567G>T	ExAC,gnomAD
rs370995614	p.Leu43Phe	missense variant	-	NC_000005.10:g.79077573C>T	ESP,TOPMed
rs374332843	p.Trp44Ter	stop gained	-	NC_000005.10:g.79077578G>A	ESP,ExAC,gnomAD
rs1250287708	p.His52Tyr	missense variant	-	NC_000005.10:g.79077600C>T	TOPMed,gnomAD
rs776589923	p.Asp54His	missense variant	-	NC_000005.10:g.79077606G>C	ExAC,TOPMed,gnomAD
rs682985	p.Asp54Glu	missense variant	-	NC_000005.10:g.79077608C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776589923	p.Asp54Asn	missense variant	-	NC_000005.10:g.79077606G>A	ExAC,TOPMed,gnomAD
rs948613801	p.Ala55Thr	missense variant	-	NC_000005.10:g.79077609G>A	gnomAD
rs141648685	p.Arg57Cys	missense variant	-	NC_000005.10:g.79079371C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776368961	p.Arg57His	missense variant	-	NC_000005.10:g.79079372G>A	ExAC,TOPMed,gnomAD
rs774337484	p.Gln58His	missense variant	-	NC_000005.10:g.79079376A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met61Ile	missense variant	-	NC_000005.10:g.79079385G>A	NCI-TCGA
rs767242813	p.Phe63Val	missense variant	-	NC_000005.10:g.79079389T>G	ExAC,gnomAD
rs573988642	p.Arg65Gly	missense variant	-	NC_000005.10:g.79079395A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs760335543	p.Ala66Thr	missense variant	-	NC_000005.10:g.79079398G>A	ExAC,gnomAD
rs760335543	p.Ala66Ser	missense variant	-	NC_000005.10:g.79079398G>T	ExAC,gnomAD
rs60158007	p.Ala66Val	missense variant	-	NC_000005.10:g.79079399C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1241061533	p.Gly67Arg	missense variant	-	NC_000005.10:g.79079401G>A	TOPMed
rs1430568904	p.Gly67Val	missense variant	-	NC_000005.10:g.79079402G>T	gnomAD
rs893268907	p.Ser68Ter	stop gained	-	NC_000005.10:g.79079405C>G	TOPMed
COSM3856436	p.Val70Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79079411T>C	NCI-TCGA Cosmic
rs754577679	p.Met71Leu	missense variant	-	NC_000005.10:g.79079413A>C	ExAC,gnomAD
rs1393493813	p.Gln72Ter	stop gained	-	NC_000005.10:g.79079416C>T	gnomAD
rs1461706354	p.Thr73Ala	missense variant	-	NC_000005.10:g.79079419A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Phe76Leu	missense variant	-	NC_000005.10:g.79079430T>A	NCI-TCGA
rs369043218	p.Ala78Val	missense variant	-	NC_000005.10:g.79079435C>T	ESP,ExAC,TOPMed,gnomAD
rs1343417402	p.Ser79Gly	missense variant	-	NC_000005.10:g.79079437A>G	gnomAD
COSM3856437	p.Asp81Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79079444A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp81His	missense variant	-	NC_000005.10:g.79079443G>C	NCI-TCGA
rs1363428940	p.Asn82Asp	missense variant	-	NC_000005.10:g.79079446A>G	gnomAD
rs1399802451	p.Met83Thr	missense variant	-	NC_000005.10:g.79079450T>C	TOPMed
rs1358995468	p.Ser85Arg	missense variant	-	NC_000005.10:g.79079457C>A	TOPMed
rs1292250330	p.Lys86Glu	missense variant	-	NC_000005.10:g.79079458A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Trp87Ter	stop gained	-	NC_000005.10:g.79080688G>A	NCI-TCGA
rs759107704	p.Ala92Val	missense variant	-	NC_000005.10:g.79080703C>T	ExAC,gnomAD
rs1256888152	p.Ala93Gly	missense variant	-	NC_000005.10:g.79080706C>G	gnomAD
rs764785479	p.Ala94Val	missense variant	-	NC_000005.10:g.79080709C>T	ExAC,TOPMed,gnomAD
rs764785479	p.Ala94Asp	missense variant	-	NC_000005.10:g.79080709C>A	ExAC,TOPMed,gnomAD
rs752264068	p.Asp96Val	missense variant	-	NC_000005.10:g.79080715A>T	ExAC,gnomAD
rs778188990	p.Ala98Thr	missense variant	-	NC_000005.10:g.79080720G>A	ExAC,TOPMed,gnomAD
rs751918270	p.Arg99Lys	missense variant	-	NC_000005.10:g.79080724G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg99Ser	missense variant	-	NC_000005.10:g.79080725G>T	NCI-TCGA
rs1205651368	p.Glu100Gln	missense variant	-	NC_000005.10:g.79080726G>C	gnomAD
rs781461273	p.Val101Met	missense variant	-	NC_000005.10:g.79080729G>A	ExAC
NCI-TCGA novel	p.Ala102Val	missense variant	-	NC_000005.10:g.79080733C>T	NCI-TCGA
rs1436221716	p.Gly103Ser	missense variant	-	NC_000005.10:g.79080735G>A	gnomAD
COSM3856438	p.Gly103Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79080736G>A	NCI-TCGA Cosmic
rs1334354722	p.Lys104Glu	missense variant	-	NC_000005.10:g.79080738A>G	gnomAD
rs1441858521	p.Lys104Arg	missense variant	-	NC_000005.10:g.79080739A>G	gnomAD
NCI-TCGA novel	p.Lys104ValPheSerTerUnk	frameshift	-	NC_000005.10:g.79080737_79080740CAAA>-	NCI-TCGA
rs1280486444	p.Gly105Asp	missense variant	-	NC_000005.10:g.79080742G>A	gnomAD
COSM4894284	p.Gly105Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79080741G>A	NCI-TCGA Cosmic
rs1379842616	p.Asp106Asn	missense variant	-	NC_000005.10:g.79080744G>A	TOPMed,gnomAD
rs1232707516	p.Asp106Gly	missense variant	-	NC_000005.10:g.79080745A>G	gnomAD
rs1279772050	p.Ala107Thr	missense variant	-	NC_000005.10:g.79080747G>A	gnomAD
rs1202433328	p.Ala110Ser	missense variant	-	NC_000005.10:g.79080756G>T	gnomAD
rs770007608	p.Gly111Val	missense variant	-	NC_000005.10:g.79080760G>T	ExAC,TOPMed,gnomAD
rs1182328977	p.Gly112Glu	missense variant	-	NC_000005.10:g.79080763G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ile113SerPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.79080759G>-	NCI-TCGA
NCI-TCGA novel	p.Ile113Met	missense variant	-	NC_000005.10:g.79080767C>G	NCI-TCGA
rs1306102144	p.Cys114Ser	missense variant	-	NC_000005.10:g.79080768T>A	TOPMed
rs780067563	p.Cys114Ter	stop gained	-	NC_000005.10:g.79080770C>A	ExAC,gnomAD
rs749393315	p.Gln115Arg	missense variant	-	NC_000005.10:g.79080772A>G	ExAC,gnomAD
rs772024385	p.Thr116Ala	missense variant	-	NC_000005.10:g.79080774A>G	ExAC
rs1419233285	p.Thr116Lys	missense variant	-	NC_000005.10:g.79080775C>A	TOPMed,gnomAD
rs1162176084	p.Ser117Ter	stop gained	-	NC_000005.10:g.79080778C>G	gnomAD
rs376612694	p.Tyr119Cys	missense variant	-	NC_000005.10:g.79080784A>G	ESP,ExAC,TOPMed,gnomAD
rs1395189227	p.Tyr119Asn	missense variant	-	NC_000005.10:g.79080783T>A	gnomAD
rs746816858	p.Tyr121Cys	missense variant	-	NC_000005.10:g.79080790A>G	ExAC,TOPMed,gnomAD
rs1365365879	p.Tyr121Ter	stop gained	-	NC_000005.10:g.79080790dup	TOPMed
rs138489722	p.Lys123Asn	missense variant	-	NC_000005.10:g.79080797G>T	ESP,TOPMed,gnomAD
rs1403936478	p.Glu125Val	missense variant	-	NC_000005.10:g.79080802A>T	TOPMed
COSM1070383	p.Arg127Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79080808G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile128Val	missense variant	-	NC_000005.10:g.79080810A>G	NCI-TCGA
rs776825802	p.Lys129Ter	stop gained	-	NC_000005.10:g.79080813A>T	ExAC,TOPMed,gnomAD
rs776582770	p.Lys129Thr	missense variant	-	NC_000005.10:g.79080814A>C	ExAC,gnomAD
rs960254666	p.Lys130Gln	missense variant	-	NC_000005.10:g.79080816A>C	TOPMed
rs369918380	p.Phe132Ser	missense variant	-	NC_000005.10:g.79080823T>C	ESP,ExAC,TOPMed,gnomAD
rs374028274	p.Arg133Ter	stop gained	-	NC_000005.10:g.79080825C>T	ESP,ExAC,TOPMed,gnomAD
rs369672073	p.Arg133Leu	missense variant	-	NC_000005.10:g.79080826G>T	ESP,ExAC,TOPMed,gnomAD
rs369672073	p.Arg133Gln	missense variant	-	NC_000005.10:g.79080826G>A	ESP,ExAC,TOPMed,gnomAD
rs192601882	p.Gln134Ter	stop gained	-	NC_000005.10:g.79080828C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1196580762	p.Val138Leu	missense variant	-	NC_000005.10:g.79080840G>C	gnomAD
NCI-TCGA novel	p.Ala140Thr	missense variant	-	NC_000005.10:g.79080846G>A	NCI-TCGA
rs1466937238	p.Trp141Ter	stop gained	-	NC_000005.10:g.79080851G>A	gnomAD
rs373649954	p.Trp141Ter	stop gained	-	NC_000005.10:g.79080850G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val144Ala	missense variant	-	NC_000005.10:g.79080859T>C	NCI-TCGA
rs750817109	p.Phe146Ser	missense variant	-	NC_000005.10:g.79080865T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe146Leu	missense variant	-	NC_000005.10:g.79080866C>A	NCI-TCGA
rs111267950	p.Leu147Trp	missense variant	-	NC_000005.10:g.79080868T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs780305116	p.Leu147Phe	missense variant	-	NC_000005.10:g.79080869G>T	ExAC,gnomAD
rs749336349	p.Glu150Asp	missense variant	-	NC_000005.10:g.79080878G>C	ExAC,gnomAD
rs756511426	p.Tyr151His	missense variant	-	NC_000005.10:g.79082809T>C	ExAC,TOPMed,gnomAD
rs58580238	p.Val155Ile	missense variant	-	NC_000005.10:g.79082821G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs575954285	p.Val155Asp	missense variant	-	NC_000005.10:g.79082822T>A	1000Genomes,ExAC,gnomAD
rs58580238	p.Val155Phe	missense variant	-	NC_000005.10:g.79082821G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748294761	p.Glu157Lys	missense variant	-	NC_000005.10:g.79082827G>A	ExAC,gnomAD
rs748294761	p.Glu157Ter	stop gained	-	NC_000005.10:g.79082827G>T	ExAC,gnomAD
rs553174622	p.Ala158Gly	missense variant	-	NC_000005.10:g.79082831C>G	ExAC,TOPMed,gnomAD
rs757097154	p.Ala158Thr	missense variant	-	NC_000005.10:g.79082830G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala158Val	missense variant	-	NC_000005.10:g.79082831C>T	NCI-TCGA
rs745650152	p.Val159Ala	missense variant	-	NC_000005.10:g.79082834T>C	ExAC,TOPMed,gnomAD
rs764534566	p.Trp160Ter	stop gained	-	NC_000005.10:g.79082838G>A	ExAC,gnomAD
rs780004951	p.Ala161Thr	missense variant	-	NC_000005.10:g.79082839G>A	ExAC,gnomAD
rs1485163986	p.Val162Met	missense variant	-	NC_000005.10:g.79082842G>A	TOPMed,gnomAD
rs1485163986	p.Val162Leu	missense variant	-	NC_000005.10:g.79082842G>C	TOPMed,gnomAD
rs768384975	p.Val164Ala	missense variant	-	NC_000005.10:g.79082849T>C	ExAC,gnomAD
rs1257338869	p.Val164Ile	missense variant	-	NC_000005.10:g.79082848G>A	gnomAD
rs1180301619	p.Leu165Phe	missense variant	-	NC_000005.10:g.79082853A>T	gnomAD
NCI-TCGA novel	p.Glu167Ter	stop gained	-	NC_000005.10:g.79082857G>T	NCI-TCGA
rs1214327603	p.Ser168Thr	missense variant	-	NC_000005.10:g.79082860T>A	TOPMed
rs773684741	p.Asp169Gly	missense variant	-	NC_000005.10:g.79082864A>G	ExAC,TOPMed,gnomAD
rs761434989	p.Arg170Lys	missense variant	-	NC_000005.10:g.79082867G>A	ExAC,gnomAD
rs370387743	p.Val172Met	missense variant	-	NC_000005.10:g.79082872G>A	ESP,ExAC,TOPMed,gnomAD
rs1301255321	p.Val174Ile	missense variant	-	NC_000005.10:g.79082878G>A	TOPMed
rs201898332	p.Met176Thr	missense variant	-	NC_000005.10:g.79082885T>C	ExAC,gnomAD
rs1389404866	p.Met176Val	missense variant	-	NC_000005.10:g.79082884A>G	TOPMed,gnomAD
rs1336348583	p.Cys177Tyr	missense variant	-	NC_000005.10:g.79082888G>A	gnomAD
rs765522826	p.Ile178Thr	missense variant	-	NC_000005.10:g.79082891T>C	ExAC,gnomAD
rs1346466077	p.Glu181Gln	missense variant	-	NC_000005.10:g.79082899G>C	gnomAD
rs758567415	p.Gly182Arg	missense variant	-	NC_000005.10:g.79082902G>C	ExAC,TOPMed,gnomAD
rs758567415	p.Gly182Arg	missense variant	-	NC_000005.10:g.79082902G>A	ExAC,TOPMed,gnomAD
COSM5527354	p.Gly182Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79082903G>A	NCI-TCGA Cosmic
rs781258660	p.Asp183His	missense variant	-	NC_000005.10:g.79082905G>C	ExAC,TOPMed,gnomAD
rs750325913	p.Met184Ile	missense variant	-	NC_000005.10:g.79082910G>T	ExAC,gnomAD
rs1479445795	p.Met184Val	missense variant	-	NC_000005.10:g.79082908A>G	gnomAD
rs756123703	p.His185Arg	missense variant	-	NC_000005.10:g.79082912A>G	ExAC
rs867595257	p.Asp186Asn	missense variant	-	NC_000005.10:g.79082914G>A	gnomAD
COSM1438723	p.Ile187Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79082919A>G	NCI-TCGA Cosmic
rs139619947	p.Thr188Ile	missense variant	-	NC_000005.10:g.79082921C>T	ESP,TOPMed,gnomAD
rs139619947	p.Thr188Asn	missense variant	-	NC_000005.10:g.79082921C>A	ESP,TOPMed,gnomAD
rs796758654	p.Pro189Ser	missense variant	-	NC_000005.10:g.79082923C>T	TOPMed,gnomAD
rs749129749	p.Pro189Leu	missense variant	-	NC_000005.10:g.79082924C>T	ExAC,TOPMed,gnomAD
rs145234986	p.Gly190Arg	missense variant	-	NC_000005.10:g.79082926G>A	ESP,ExAC,TOPMed,gnomAD
COSM169627	p.Glu191Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000005.10:g.79082929G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu191Lys	missense variant	-	NC_000005.10:g.79082929G>A	NCI-TCGA
rs1416968356	p.Ala193Val	missense variant	-	NC_000005.10:g.79082936C>T	gnomAD
rs771630750	p.Arg195Ser	missense variant	-	NC_000005.10:g.79082943G>T	ExAC,gnomAD
rs147230129	p.Arg195Thr	missense variant	-	NC_000005.10:g.79082942G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg195Lys	missense variant	-	NC_000005.10:g.79082942G>A	NCI-TCGA
rs777227456	p.Ala201Pro	missense variant	-	NC_000005.10:g.79083194G>C	ExAC,TOPMed
rs1222922357	p.Ala201Val	missense variant	-	NC_000005.10:g.79083195C>T	gnomAD
rs777227456	p.Ala201Thr	missense variant	-	NC_000005.10:g.79083194G>A	ExAC,TOPMed
rs139123468	p.Val204Ile	missense variant	-	NC_000005.10:g.79083203G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139123468	p.Val204Leu	missense variant	-	NC_000005.10:g.79083203G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139123468	p.Val204Phe	missense variant	-	NC_000005.10:g.79083203G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777239278	p.Gly205Ser	missense variant	-	NC_000005.10:g.79083206G>A	ExAC,gnomAD
rs746200705	p.Val206Met	missense variant	-	NC_000005.10:g.79083209G>A	ExAC,TOPMed,gnomAD
rs770134001	p.Arg209His	missense variant	-	NC_000005.10:g.79083219G>A	ExAC,TOPMed,gnomAD
rs770134001	p.Arg209Leu	missense variant	-	NC_000005.10:g.79083219G>T	ExAC,TOPMed,gnomAD
rs1264240478	p.Arg209Cys	missense variant	-	NC_000005.10:g.79083218C>T	TOPMed,gnomAD
rs763225133	p.Asp213Asn	missense variant	-	NC_000005.10:g.79083230G>A	ExAC,TOPMed,gnomAD
COSM1070385	p.Asp213Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083231A>G	NCI-TCGA Cosmic
rs763225133	p.Asp213Tyr	missense variant	-	NC_000005.10:g.79083230G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys217Gln	missense variant	-	NC_000005.10:g.79083242A>C	NCI-TCGA
rs60797063	p.Thr218Lys	missense variant	-	NC_000005.10:g.79083246C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs60797063	p.Thr218Met	missense variant	-	NC_000005.10:g.79083246C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766223004	p.Leu221His	missense variant	-	NC_000005.10:g.79083255T>A	ExAC,gnomAD
rs766223004	p.Leu221Pro	missense variant	-	NC_000005.10:g.79083255T>C	ExAC,gnomAD
rs753872600	p.Met222Val	missense variant	-	NC_000005.10:g.79083257A>G	ExAC,gnomAD
rs370259397	p.Met222Thr	missense variant	-	NC_000005.10:g.79083258T>C	ESP,ExAC,TOPMed,gnomAD
rs868419764	p.Glu224Gly	missense variant	-	NC_000005.10:g.79083264A>G	gnomAD
rs765018060	p.Glu224Gln	missense variant	-	NC_000005.10:g.79083263G>C	ExAC,gnomAD
rs1356031473	p.Gly225Ser	missense variant	-	NC_000005.10:g.79083266G>A	gnomAD
rs752522988	p.Ala229Ser	missense variant	-	NC_000005.10:g.79083278G>T	ExAC,TOPMed,gnomAD
rs752522988	p.Ala229Thr	missense variant	-	NC_000005.10:g.79083278G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly230Val	missense variant	-	NC_000005.10:g.79083282G>T	NCI-TCGA
rs1292567028	p.Leu231Arg	missense variant	-	NC_000005.10:g.79083285T>G	gnomAD
rs1215238410	p.Ala233Val	missense variant	-	NC_000005.10:g.79083291C>T	gnomAD
rs1240000061	p.His234Gln	missense variant	-	NC_000005.10:g.79083295C>A	gnomAD
rs777454085	p.His234Tyr	missense variant	-	NC_000005.10:g.79083293C>T	ExAC,gnomAD
rs746494604	p.Met236Val	missense variant	-	NC_000005.10:g.79083299A>G	ExAC,gnomAD
rs756813656	p.Met236Ile	missense variant	-	NC_000005.10:g.79083301G>A	ExAC,TOPMed,gnomAD
rs1336403018	p.Met236Thr	missense variant	-	NC_000005.10:g.79083300T>C	TOPMed
rs60815816	p.Val237Leu	missense variant	-	NC_000005.10:g.79083302G>T	ExAC,TOPMed,gnomAD
rs60815816	p.Val237Met	missense variant	-	NC_000005.10:g.79083302G>A	ExAC,TOPMed,gnomAD
rs746316186	p.Val237Ala	missense variant	-	NC_000005.10:g.79083303T>C	ExAC,gnomAD
rs770231553	p.Gln238Ter	stop gained	-	NC_000005.10:g.79083305C>T	ExAC,TOPMed,gnomAD
rs373414574	p.Pro239Ser	missense variant	-	NC_000005.10:g.79083308C>T	ESP,ExAC,TOPMed,gnomAD
COSM6171939	p.Leu240Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083311C>G	NCI-TCGA Cosmic
rs761971562	p.Ala244Val	missense variant	-	NC_000005.10:g.79083324C>T	ExAC,TOPMed,gnomAD
rs774781676	p.Ala244Thr	missense variant	-	NC_000005.10:g.79083323G>A	ExAC,TOPMed,gnomAD
rs759479503	p.Pro245Ser	missense variant	-	NC_000005.10:g.79083326C>T	ExAC,gnomAD
rs1355888942	p.Pro245Leu	missense variant	-	NC_000005.10:g.79083327C>T	gnomAD
rs898851902	p.Asp246Gly	missense variant	-	NC_000005.10:g.79083330A>G	TOPMed
rs1055192452	p.Gly248Asp	missense variant	-	NC_000005.10:g.79083336G>A	TOPMed
rs752470111	p.Glu250Lys	missense variant	-	NC_000005.10:g.79083341G>A	ExAC,gnomAD
rs376553846	p.Gly251Glu	missense variant	-	NC_000005.10:g.79083345G>A	ESP,ExAC,TOPMed,gnomAD
COSM3856439	p.Phe252Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083348T>C	NCI-TCGA Cosmic
rs1381659391	p.Asp254Glu	missense variant	-	NC_000005.10:g.79083355T>A	gnomAD
rs1381659391	p.Asp254Glu	missense variant	-	NC_000005.10:g.79083355T>G	gnomAD
rs149118863	p.Leu255Ile	missense variant	-	NC_000005.10:g.79083356C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141370708	p.Leu255His	missense variant	-	NC_000005.10:g.79083357T>A	ESP,ExAC,TOPMed,gnomAD
rs780709678	p.Pro256Leu	missense variant	-	NC_000005.10:g.79083360C>T	ExAC,gnomAD
COSM739151	p.Pro256Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083359C>A	NCI-TCGA Cosmic
rs749920892	p.Glu257Ala	missense variant	-	NC_000005.10:g.79083363A>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro259Thr	missense variant	-	NC_000005.10:g.79083368C>A	NCI-TCGA
NCI-TCGA novel	p.Gly261Arg	missense variant	-	NC_000005.10:g.79083374G>C	NCI-TCGA
rs780702302	p.Leu262Pro	missense variant	-	NC_000005.10:g.79083631T>C	ExAC,TOPMed,gnomAD
rs779369733	p.Glu263Asp	missense variant	-	NC_000005.10:g.79083635G>C	ExAC,gnomAD
rs146677354	p.Glu263Gly	missense variant	-	NC_000005.10:g.79083634A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1317084891	p.Arg265Lys	missense variant	-	NC_000005.10:g.79083640G>A	gnomAD
rs1317084891	p.Arg265Ile	missense variant	-	NC_000005.10:g.79083640G>T	gnomAD
NCI-TCGA novel	p.Arg265Thr	missense variant	-	NC_000005.10:g.79083640G>C	NCI-TCGA
rs1212923178	p.Val266Ala	missense variant	-	NC_000005.10:g.79083643T>C	TOPMed
rs1219075834	p.Arg269Gly	missense variant	-	NC_000005.10:g.79083651A>G	gnomAD
rs182593094	p.Arg269Thr	missense variant	-	NC_000005.10:g.79083652G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM3074616	p.Arg269Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083652G>A	NCI-TCGA Cosmic
rs1332647731	p.Asp271Asn	missense variant	-	NC_000005.10:g.79083657G>A	TOPMed,gnomAD
rs1332647731	p.Asp271His	missense variant	-	NC_000005.10:g.79083657G>C	TOPMed,gnomAD
rs990949408	p.Gln273Glu	missense variant	-	NC_000005.10:g.79083663C>G	TOPMed
rs777902589	p.Lys274Asn	missense variant	-	NC_000005.10:g.79083668A>T	ExAC,gnomAD
rs199517002	p.Ala276Thr	missense variant	-	NC_000005.10:g.79083672G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199517002	p.Ala276Pro	missense variant	-	NC_000005.10:g.79083672G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg277Thr	missense variant	-	NC_000005.10:g.79083676G>C	NCI-TCGA
rs768615351	p.Ala279Thr	missense variant	-	NC_000005.10:g.79083681G>A	ExAC,TOPMed,gnomAD
rs774104136	p.Ala279Val	missense variant	-	NC_000005.10:g.79083682C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala279Asp	missense variant	-	NC_000005.10:g.79083682C>A	NCI-TCGA
rs201662010	p.Tyr280Cys	missense variant	-	NC_000005.10:g.79083685A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs750110300	p.Asn281Ser	missense variant	-	NC_000005.10:g.79083688A>G	ExAC,TOPMed,gnomAD
rs367660492	p.Asn281Lys	missense variant	-	NC_000005.10:g.79083689C>G	ESP,ExAC,TOPMed,gnomAD
rs1407696167	p.Gly283Glu	missense variant	-	NC_000005.10:g.79083694G>A	TOPMed
rs765929227	p.Val284Ile	missense variant	-	NC_000005.10:g.79083696G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val284Ala	missense variant	-	NC_000005.10:g.79083697T>C	NCI-TCGA
rs753420320	p.Arg285Thr	missense variant	-	NC_000005.10:g.79083700G>C	ExAC,gnomAD
rs1421263082	p.Arg285Gly	missense variant	-	NC_000005.10:g.79083699A>G	TOPMed
rs765882378	p.Gly289Arg	missense variant	-	NC_000005.10:g.79083711G>A	ExAC,gnomAD
rs753080662	p.Cys290Gly	missense variant	-	NC_000005.10:g.79083714T>G	ExAC,gnomAD
rs1243977604	p.Cys290Tyr	missense variant	-	NC_000005.10:g.79083715G>A	gnomAD
rs1472378782	p.Glu294Gln	missense variant	-	NC_000005.10:g.79083726G>C	TOPMed
rs894589310	p.His297Arg	missense variant	-	NC_000005.10:g.79083736A>G	gnomAD
rs767995947	p.Ala302Thr	missense variant	-	NC_000005.10:g.79083750G>A	ExAC,TOPMed,gnomAD
rs1202919076	p.Glu303Lys	missense variant	-	NC_000005.10:g.79083753G>A	gnomAD
rs1284652909	p.Glu304Ter	stop gained	-	NC_000005.10:g.79083756G>T	gnomAD
rs1195339699	p.Arg309Met	missense variant	-	NC_000005.10:g.79083772G>T	gnomAD
rs1012849436	p.Arg309Gly	missense variant	-	NC_000005.10:g.79083771A>G	-
NCI-TCGA novel	p.Arg309Lys	missense variant	-	NC_000005.10:g.79083772G>A	NCI-TCGA
NCI-TCGA novel	p.Leu312CysPheSerTerUnkUnk	frameshift	-	NC_000005.10:g.79083777T>-	NCI-TCGA
rs747146838	p.Pro314Leu	missense variant	-	NC_000005.10:g.79083787C>T	ExAC,gnomAD
COSM3920376	p.Glu317Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083795G>A	NCI-TCGA Cosmic
rs1250955240	p.His319Tyr	missense variant	-	NC_000005.10:g.79083801C>T	TOPMed
rs781211473	p.Gly320Ser	missense variant	-	NC_000005.10:g.79083804G>A	ExAC,TOPMed,gnomAD
rs368547794	p.Trp322Ter	stop gained	-	NC_000005.10:g.79083811G>A	ESP,ExAC,TOPMed,gnomAD
rs376104626	p.Gly323Val	missense variant	-	NC_000005.10:g.79083814G>T	ESP,ExAC,TOPMed,gnomAD
rs376104626	p.Gly323Glu	missense variant	-	NC_000005.10:g.79083814G>A	ESP,ExAC,TOPMed,gnomAD
rs747971613	p.Met328Leu	missense variant	-	NC_000005.10:g.79083828A>T	ExAC,TOPMed,gnomAD
rs747971613	p.Met328Val	missense variant	-	NC_000005.10:g.79083828A>G	ExAC,TOPMed,gnomAD
rs1160348166	p.Thr330Pro	missense variant	-	NC_000005.10:g.79083834A>C	gnomAD
COSM4799145	p.Thr330Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000005.10:g.79083834A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys331Thr	missense variant	-	NC_000005.10:g.79083838A>C	NCI-TCGA
rs1382933300	p.Pro332Ser	missense variant	-	NC_000005.10:g.79083840C>T	gnomAD
rs1395296035	p.Pro332Leu	missense variant	-	NC_000005.10:g.79083841C>T	TOPMed,gnomAD
rs771697080	p.Ile334Val	missense variant	-	NC_000005.10:g.79083846A>G	ExAC,TOPMed,gnomAD
rs771697080	p.Ile334Phe	missense variant	-	NC_000005.10:g.79083846A>T	ExAC,TOPMed,gnomAD
rs760195361	p.Arg335Lys	missense variant	-	NC_000005.10:g.79083850G>A	ExAC,TOPMed,gnomAD
rs760195361	p.Arg335Thr	missense variant	-	NC_000005.10:g.79083850G>C	ExAC,TOPMed,gnomAD
rs1306687051	p.Ala336Val	missense variant	-	NC_000005.10:g.79083853C>T	TOPMed
rs776248294	p.Arg337Thr	missense variant	-	NC_000005.10:g.79083856G>C	ExAC,gnomAD
rs1361788977	p.Ala338Val	missense variant	-	NC_000005.10:g.79088495C>T	TOPMed
rs372276376	p.Arg339Ter	stop gained	-	NC_000005.10:g.79088497C>T	ESP,ExAC,TOPMed,gnomAD
rs746838767	p.Arg339Gln	missense variant	-	NC_000005.10:g.79088498G>A	ExAC,TOPMed,gnomAD
rs138961781	p.Arg340Lys	missense variant	-	NC_000005.10:g.79088501G>A	ESP,ExAC,TOPMed,gnomAD
rs56053829	p.Arg340Gly	missense variant	-	NC_000005.10:g.79088500A>G	ExAC,gnomAD
rs375611100	p.Glu341Asp	missense variant	-	NC_000005.10:g.79088505G>C	ESP,ExAC,TOPMed,gnomAD
rs764769227	p.Tyr342Ter	stop gained	-	NC_000005.10:g.79088508T>A	ExAC,TOPMed,gnomAD
rs1238162537	p.Tyr342His	missense variant	-	NC_000005.10:g.79088506T>C	gnomAD
NCI-TCGA novel	p.Trp343Cys	missense variant	-	NC_000005.10:g.79088511G>T	NCI-TCGA
NCI-TCGA novel	p.Glu344Gly	missense variant	-	NC_000005.10:g.79088513A>G	NCI-TCGA
rs763331564	p.Leu346Arg	missense variant	-	NC_000005.10:g.79088519T>G	ExAC,gnomAD
rs775091606	p.Leu346Val	missense variant	-	NC_000005.10:g.79088518C>G	ExAC,gnomAD
rs532321076	p.Leu347Pro	missense variant	-	NC_000005.10:g.79088522T>C	1000Genomes,ExAC,gnomAD
rs149000124	p.Ala349Thr	missense variant	-	NC_000005.10:g.79088527G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762225803	p.Gly351Arg	missense variant	-	NC_000005.10:g.79088533G>C	ExAC,TOPMed,gnomAD
rs143035984	p.Arg352Lys	missense variant	-	NC_000005.10:g.79088537G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148183648	p.Pro353His	missense variant	-	NC_000005.10:g.79088540C>A	ESP,ExAC,TOPMed,gnomAD
rs750578244	p.Pro353Ser	missense variant	-	NC_000005.10:g.79088539C>T	ExAC,gnomAD
rs750578244	p.Pro353Thr	missense variant	-	NC_000005.10:g.79088539C>A	ExAC,gnomAD
rs779948612	p.Ser357Leu	missense variant	-	NC_000005.10:g.79088552C>T	ExAC,TOPMed,gnomAD
rs1346775488	p.Leu358Pro	missense variant	-	NC_000005.10:g.79088555T>C	TOPMed
rs777812797	p.Leu358Met	missense variant	-	NC_000005.10:g.79088554C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ter364Arg	frameshift	-	NC_000005.10:g.79088572_79088573TA>-	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0008924	Cleft upper lip	disease	CTD_human
C0008925	Cleft Palate	disease	CTD_human
C0010068	Coronary heart disease	disease	LHGDN
C0598608	Hyperhomocysteinemia	disease	LHGDN
C1837218	Cleft palate, isolated	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0008270	zinc ion binding	IDA
GO:0047150	betaine-homocysteine S-methyltransferase activity	IBA
GO:0061627	S-methylmethionine-homocysteine S-methyltransferase activity	IDA
GO:0061627	S-methylmethionine-homocysteine S-methyltransferase activity	IBA
GO:0047150	betaine-homocysteine S-methyltransferase activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000096	sulfur amino acid metabolic process	TAS
GO:0032259	methylation	IEA
GO:0033477	S-methylmethionine metabolic process	IDA
GO:0046500	S-adenosylmethionine metabolic process	IDA
GO:0071267	L-methionine salvage	IDA
GO:0006577	amino-acid betaine metabolic process	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005829	cytosol	TAS
GO:0070062	extracellular exosome	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1614635	Sulfur amino acid metabolism	TAS
R-HSA-71291	Metabolism of amino acids and derivatives	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of BHMT2 mRNA	29038090
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of BHMT2 mRNA	28903501
C490166	1-(4-methoxyphenyl)piperazine	1-(4-methoxyphenyl)piperazine results in decreased expression of BHMT2 mRNA	26821219
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of BHMT2 mRNA	28628672
C078092	1-piperonylpiperazine	1-piperonylpiperazine results in decreased expression of BHMT2 mRNA	26821219
C014211	2,3,7,8-tetrachlorodibenzofuran	2,3,7,8-tetrachlorodibenzofuran results in decreased expression of BHMT2 mRNA	21724226
D000082	Acetaminophen	Acetaminophen results in decreased expression of BHMT2 mRNA	29067470
D000082	Acetaminophen	Acetaminophen results in increased expression of BHMT2 mRNA	26690555
D000082	Acetaminophen	Acetaminophen affects the expression of BHMT2 mRNA	17562736
D000082	Acetaminophen	BHMT2 protein results in increased metabolism of and results in increased susceptibility to Acetaminophen	19923254
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of BHMT2 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of BHMT2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of BHMT2 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of BHMT2 mRNA	20106945; 21632981; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene promotes the reaction [AHR protein binds to BHMT2 promoter]	19654925
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of BHMT2 mRNA	19770486
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of BHMT2 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of BHMT2 mRNA	27685785
C006780	bisphenol A	bisphenol A affects the methylation of BHMT2 promoter	27415467
C006780	bisphenol A	bisphenol A results in decreased expression of BHMT2 mRNA	25181051
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BHMT2 mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of BHMT2 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of BHMT2 mRNA]	31150632
D019327	Copper Sulfate	Copper Sulfate results in increased expression of BHMT2 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in decreased expression of BHMT2 mRNA	20106945
D016572	Cyclosporine	Cyclosporine results in increased expression of BHMT2 mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in decreased expression of BHMT2 mRNA	19770486
C093628	cyproconazole	cyproconazole results in decreased expression of BHMT2 mRNA	22334560
D000077209	Decitabine	Decitabine results in increased expression of BHMT2 mRNA	15251184
D000077209	Decitabine	[Tetrachlorodibenzodioxin co-treated with Decitabine] results in increased expression of BHMT2 mRNA	15251184
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of BHMT2 mRNA	28628672
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of BHMT2 mRNA	31163220
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of BHMT2 mRNA	28943392
D013759	Dronabinol	Dronabinol affects the methylation of BHMT2 gene	26044905
D004726	Endosulfan	Endosulfan results in decreased expression of BHMT2 mRNA	29391264
C109476	epoxiconazole	epoxiconazole results in decreased expression of BHMT2 mRNA	22334560
C039281	furan	furan results in increased methylation of BHMT2 gene	22079235
D005839	Gentamicins	Gentamicins results in decreased expression of BHMT2 mRNA	22061828
D005897	Glafenine	Glafenine results in decreased expression of BHMT2 mRNA	24136188
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of BHMT2 mRNA	28628672
D008694	Methamphetamine	Methamphetamine affects the expression of BHMT2 mRNA	19564919
D008694	Methamphetamine	[Methamphetamine co-treated with SCH 23390] affects the expression of BHMT2 mRNA	19564919
D008701	Methapyrilene	Methapyrilene results in decreased expression of BHMT2 mRNA	30467583
D008715	Methionine	Methionine inhibits the reaction [BHMT2 protein results in increased metabolism of Vitamin U]	18230605
C461488	N-benzylpiperazine	N-benzylpiperazine results in decreased expression of BHMT2 mRNA	26821219
C012655	nimesulide	nimesulide results in decreased expression of BHMT2 mRNA	24136188
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of BHMT2 mRNA	19710929
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of BHMT2 mRNA	19710929
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of BHMT2 mRNA	23608068
C045950	propiconazole	propiconazole results in decreased expression of BHMT2 mRNA	21278054; 22334560;
C015586	propiverine	propiverine binds to BHMT2 protein	29273565
D011794	Quercetin	Quercetin results in decreased expression of BHMT2 mRNA	21632981
D012402	Rotenone	Rotenone results in decreased expression of BHMT2 mRNA	28374803
D012436	S-Adenosylmethionine	S-Adenosylmethionine inhibits the reaction [BHMT2 protein results in increased metabolism of Vitamin U]	18230605
C534628	SCH 23390	[Methamphetamine co-treated with SCH 23390] affects the expression of BHMT2 mRNA	19564919
C534628	SCH 23390	SCH 23390 affects the expression of BHMT2 mRNA	19564919
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of BHMT2 mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of BHMT2 mRNA	23806026; 25895662;
C017947	sodium arsenite	sodium arsenite results in increased expression of BHMT2 mRNA	25493608
D012969	Sodium Fluoride	Sodium Fluoride results in decreased expression of BHMT2 mRNA	27862939
C004648	testosterone enanthate	testosterone enanthate affects the expression of BHMT2 mRNA	17440010
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Decitabine] results in increased expression of BHMT2 mRNA	15251184
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BHMT2 mRNA	19770486
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of BHMT2 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of BHMT2 mRNA	21724226
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of BHMT2 mRNA	18465118
D013853	Thioacetamide	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of BHMT2 mRNA	28943392
D014635	Valproic Acid	Valproic Acid results in decreased expression of BHMT2 mRNA	29501571
D014635	Valproic Acid	Valproic Acid results in decreased expression of BHMT2 protein	29501571
D014640	Vancomycin	Vancomycin results in increased expression of BHMT2 mRNA	18930951
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of BHMT2 mRNA	26682919
D014814	Vitamin U	BHMT2 protein results in increased metabolism of Vitamin U	18230605
D014814	Vitamin U	Methionine inhibits the reaction [BHMT2 protein results in increased metabolism of Vitamin U]	18230605
D014814	Vitamin U	S-Adenosylmethionine inhibits the reaction [BHMT2 protein results in increased metabolism of Vitamin U]	18230605

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0479	Metal-binding
KW-0489	Methyltransferase
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0808	Transferase
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR017226	Betaine-hCys_S-MeTrfase_BHMT
IPR003726	HCY_dom
IPR036589	HCY_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS50970	HCY

Pfam

Pfam ID	Pfam Term
PF02574	S-methyl_trans

Gene: BHMT2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction