CleftGeneDB-Search

Gene: PEMT

Basic information

Tag	Content
Uniprot ID	Q9UBM1; A8MZ66; B4DY41; D3DXC3; Q6IAQ5; Q86VL3; Q9BW86; Q9UHY6; Q9Y6V9;
Entrez ID	10400
Genbank protein ID	CAG33380.1; AAK19172.1; BAG63603.1; AAD53292.1; AAH50593.1; AAF14867.1; AAH00557.1; EAW55701.1; ACB21050.1; BAA82407.1; EAW55702.1; AAD53291.1;
Genbank nucleotide ID	NM_148173.1; NM_001267551.1; NM_001267552.1; NM_007169.2; NM_148172.2;
Ensembl protein ID	ENSP00000379129; ENSP00000255389; ENSP00000379127; ENSP00000379128;
Ensembl nucleotide ID	ENSG00000133027
Gene name	Phosphatidylethanolamine N-methyltransferase
Gene symbol	PEMT
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	20662904
Functional description	Catalyzes the three sequential steps of the methylation pathway of phosphatidylcholine biosynthesis, the SAM-dependent methylation of phosphatidylethanolamine (PE) to phosphatidylmonomethylethanolamine (PMME), PMME to phosphatidyldimethylethanolamine (PDME), and PDME to phosphatidylcholine (PC).
Sequence	MTRLLGYVDP LDPSFVAAVI TITFNPLYWN VVARWEHKTR KLSRAFGSPY LACYSLSVTI 60 LLLNFLRSHC FTQAMLSQPR MESLDTPAAY SLGLALLGLG VVLVLSSFFA LGFAGTFLGD 120 YFGILKEARV TVFPFNILDN PMYWGSTANY LGWAIMHASP TGLLLTVLVA LTYIVALLYE 180 EPFTAEIYRQ KASGSHKRS 199

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	PEMT	479526	J9P3L9	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PEMT	102170908	A0A452DY36	Capra hircus	Prediction	More>>
1:1 ortholog	PEMT	10400	Q9UBM1	Homo sapiens	Publication	More>>
1:1 ortholog	Pemt	18618	Q61907	Mus musculus	Prediction	More>>
1:1 ortholog	PEMT	454478	H2QCD5	Pan troglodytes	Prediction	More>>
1:1 ortholog	PEMT	397654	Q7YRH5	Sus scrofa	Prediction	More>>
1:1 ortholog	Pemt	25511	Q08388	Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PEMT	rs12325817C>G	PCR-RFLP	20662904

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs143067369	p.Thr2Ser	missense variant	-	NC_000017.11:g.17577008G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs70959686	p.Arg3Trp	missense variant	-	NC_000017.11:g.17577006G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767735937	p.Arg3Gln	missense variant	-	NC_000017.11:g.17577005C>T	ExAC,TOPMed,gnomAD
rs372480687	p.Leu4Met	missense variant	-	NC_000017.11:g.17577003G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766678032	p.Gly6Ser	missense variant	-	NC_000017.11:g.17576997C>T	ExAC,TOPMed,gnomAD
rs766678032	p.Gly6Cys	missense variant	-	NC_000017.11:g.17576997C>A	ExAC,TOPMed,gnomAD
rs763077503	p.Tyr7Cys	missense variant	-	NC_000017.11:g.17576993T>C	ExAC,TOPMed,gnomAD
rs144323623	p.Val8Met	missense variant	-	NC_000017.11:g.17576991C>T	ESP,ExAC,TOPMed,gnomAD
rs538509651	p.Pro10Thr	missense variant	-	NC_000017.11:g.17576985G>T	1000Genomes,ExAC,gnomAD
COSM3514731	p.Pro10Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17576985G>A	NCI-TCGA Cosmic
rs1157530130	p.Pro10Leu	missense variant	-	NC_000017.11:g.17576984G>A	gnomAD
VAR_082891	p.Val11Ala	Missense	-	-	UniProt
rs368053864	p.Pro13Ser	missense variant	-	NC_000017.11:g.17576976G>A	ESP,ExAC,TOPMed,gnomAD
rs745433638	p.Ser14Gly	missense variant	-	NC_000017.11:g.17576973T>C	ExAC,TOPMed,gnomAD
rs745433638	p.Ser14Arg	missense variant	-	NC_000017.11:g.17576973T>G	ExAC,TOPMed,gnomAD
rs374998488	p.Val16Met	missense variant	-	NC_000017.11:g.17576967C>T	ESP,ExAC,TOPMed,gnomAD
rs1195318361	p.Ala17Asp	missense variant	-	NC_000017.11:g.17576963G>T	gnomAD
rs748826887	p.Ala18Gly	missense variant	-	NC_000017.11:g.17576960G>C	ExAC,TOPMed,gnomAD
rs748826887	p.Ala18Val	missense variant	-	NC_000017.11:g.17576960G>A	ExAC,TOPMed,gnomAD
rs1299249104	p.Val19Ala	missense variant	-	NC_000017.11:g.17576957A>G	gnomAD
rs372021222	p.Val19Ile	missense variant	-	NC_000017.11:g.17576958C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781325863	p.Ile22Val	missense variant	-	NC_000017.11:g.17576949T>C	ExAC,gnomAD
rs567348854	p.Asn25Ser	missense variant	-	NC_000017.11:g.17576939T>C	1000Genomes,ExAC,gnomAD
rs764843687	p.Pro26Leu	missense variant	-	NC_000017.11:g.17576936G>A	ExAC,TOPMed,gnomAD
rs750598702	p.Leu27Phe	missense variant	-	NC_000017.11:g.17576934G>A	ExAC,gnomAD
rs1298068738	p.Leu27Arg	missense variant	-	NC_000017.11:g.17576933A>C	gnomAD
rs762207699	p.Tyr28Cys	missense variant	-	NC_000017.11:g.17576930T>C	ExAC,gnomAD
rs776961600	p.Tyr28Ter	stop gained	-	NC_000017.11:g.17576929G>C	ExAC
rs1165108786	p.Trp29Ter	stop gained	-	NC_000017.11:g.17576927C>T	gnomAD
NCI-TCGA novel	p.Asn30Tyr	missense variant	-	NC_000017.11:g.17576925T>A	NCI-TCGA
rs1411443198	p.Asn30Lys	missense variant	-	NC_000017.11:g.17576923A>T	gnomAD
rs1404385876	p.Asn30His	missense variant	-	NC_000017.11:g.17576925T>G	gnomAD
rs776495508	p.Val32Ala	missense variant	-	NC_000017.11:g.17522394A>G	ExAC,TOPMed,gnomAD
rs761487331	p.Val32Leu	missense variant	-	NC_000017.11:g.17522395C>G	ExAC,TOPMed,gnomAD
rs779901301	p.Arg34Gln	missense variant	-	NC_000017.11:g.17522388C>T	ExAC,gnomAD
rs779901301	p.Arg34Pro	missense variant	-	NC_000017.11:g.17522388C>G	ExAC,gnomAD
rs768283496	p.Arg34Ter	stop gained	-	NC_000017.11:g.17522389G>A	ExAC,gnomAD
rs746009249	p.Trp35Arg	missense variant	-	NC_000017.11:g.17522386A>G	ExAC,gnomAD
rs1359692381	p.His37Arg	missense variant	-	NC_000017.11:g.17522379T>C	gnomAD
rs1026563261	p.Lys38Glu	missense variant	-	NC_000017.11:g.17522377T>C	gnomAD
rs754002033	p.Thr39Asn	missense variant	-	NC_000017.11:g.17522373G>T	ExAC,TOPMed,gnomAD
rs756474306	p.Arg40Ser	missense variant	-	NC_000017.11:g.17522371G>T	ExAC,TOPMed,gnomAD
rs77857768	p.Arg40His	missense variant	-	NC_000017.11:g.17522370C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756474306	p.Arg40Cys	missense variant	-	NC_000017.11:g.17522371G>A	ExAC,TOPMed,gnomAD
rs1257131019	p.Lys41Glu	missense variant	-	NC_000017.11:g.17522368T>C	gnomAD
rs368301905	p.Ser43Asn	missense variant	-	NC_000017.11:g.17522361C>T	ESP,ExAC,gnomAD
rs749955730	p.Ser43Arg	missense variant	-	NC_000017.11:g.17522362T>G	ExAC,TOPMed,gnomAD
rs1375708568	p.Arg44Gly	missense variant	-	NC_000017.11:g.17522359T>C	gnomAD
NCI-TCGA novel	p.Ala45Pro	missense variant	-	NC_000017.11:g.17522356C>G	NCI-TCGA
rs776110645	p.Ala45Gly	missense variant	-	NC_000017.11:g.17522355G>C	ExAC,gnomAD
rs761576939	p.Ala45Thr	missense variant	-	NC_000017.11:g.17522356C>T	ExAC,gnomAD
rs776110645	p.Ala45Asp	missense variant	-	NC_000017.11:g.17522355G>T	ExAC,gnomAD
rs776110645	p.Ala45Val	missense variant	-	NC_000017.11:g.17522355G>A	ExAC,gnomAD
rs140872588	p.Phe46Leu	missense variant	-	NC_000017.11:g.17522351G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly47Ter	stop gained	-	NC_000017.11:g.17522350C>A	NCI-TCGA
rs775345366	p.Gly47Arg	missense variant	-	NC_000017.11:g.17522350C>T	ExAC,gnomAD
rs1026497312	p.Ser48Pro	missense variant	-	NC_000017.11:g.17522347A>G	TOPMed,gnomAD
rs1035350632	p.Ser48Phe	missense variant	-	NC_000017.11:g.17522346G>A	TOPMed,gnomAD
rs745740700	p.Tyr50Cys	missense variant	-	NC_000017.11:g.17522340T>C	ExAC,gnomAD
rs1461260456	p.Leu51Pro	missense variant	-	NC_000017.11:g.17522337A>G	TOPMed
rs770950291	p.Ala52Thr	missense variant	-	NC_000017.11:g.17522335C>T	ExAC,gnomAD
rs1181851094	p.Tyr54Cys	missense variant	-	NC_000017.11:g.17522328T>C	gnomAD
rs114310588	p.Ser55Cys	missense variant	-	NC_000017.11:g.17522325G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs897453	p.Val58Leu	missense variant	-	NC_000017.11:g.17522317C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs897453	p.Val58Leu	missense variant	-	NC_000017.11:g.17522317C>G	UniProt,dbSNP
VAR_060083	p.Val58Leu	missense variant	-	NC_000017.11:g.17522317C>G	UniProt
rs897453	p.Val58Ile	missense variant	-	NC_000017.11:g.17522317C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs897453	p.Val58Ile	missense variant	-	NC_000017.11:g.17522317C>T	UniProt,dbSNP
VAR_032771	p.Val58Ile	missense variant	-	NC_000017.11:g.17522317C>T	UniProt
rs897453	p.Val58Phe	missense variant	-	NC_000017.11:g.17522317C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756871634	p.Leu63Arg	missense variant	-	NC_000017.11:g.17522301A>C	ExAC,gnomAD
rs753370914	p.Asn64Tyr	missense variant	-	NC_000017.11:g.17522299T>A	ExAC,gnomAD
rs763714624	p.Phe65Leu	missense variant	-	NC_000017.11:g.17522296A>G	ExAC,gnomAD
rs775153502	p.Arg67His	missense variant	-	NC_000017.11:g.17522289C>T	ExAC,gnomAD
rs1298683037	p.Arg67Cys	missense variant	-	NC_000017.11:g.17522290G>A	gnomAD
rs1296636713	p.Ser68Leu	missense variant	-	NC_000017.11:g.17522286G>A	gnomAD
rs771507562	p.His69Leu	missense variant	-	NC_000017.11:g.17522283T>A	gnomAD
rs554181448	p.His69Tyr	missense variant	-	NC_000017.11:g.17522284G>A	1000Genomes,ExAC,gnomAD
rs1422382053	p.Cys70Arg	missense variant	-	NC_000017.11:g.17522281A>G	TOPMed,gnomAD
rs1207668802	p.Phe71Val	missense variant	-	NC_000017.11:g.17512653A>C	gnomAD
NCI-TCGA novel	p.Thr72Ala	missense variant	-	NC_000017.11:g.17512650T>C	NCI-TCGA
rs534953760	p.Thr72Lys	missense variant	-	NC_000017.11:g.17512649G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs534953760	p.Thr72Met	missense variant	-	NC_000017.11:g.17512649G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752347106	p.Gln73Arg	missense variant	-	NC_000017.11:g.17512646T>C	ExAC,gnomAD
rs767332977	p.Met75Ile	missense variant	-	NC_000017.11:g.17512639C>T	ExAC,TOPMed,gnomAD
rs752592795	p.Met75Thr	missense variant	-	NC_000017.11:g.17512640A>G	TOPMed,gnomAD
rs1235548130	p.Pro79Thr	missense variant	-	NC_000017.11:g.17512629G>T	TOPMed,gnomAD
rs1235548130	p.Pro79Ser	missense variant	-	NC_000017.11:g.17512629G>A	TOPMed,gnomAD
rs759374196	p.Met81Ile	missense variant	-	NC_000017.11:g.17512621C>T	ExAC,gnomAD
rs1317819179	p.Glu82Lys	missense variant	-	NC_000017.11:g.17512620C>T	TOPMed
rs1300903306	p.Glu82Gly	missense variant	-	NC_000017.11:g.17512619T>C	gnomAD
rs999211915	p.Glu82Asp	missense variant	-	NC_000017.11:g.17512618C>G	gnomAD
rs774116756	p.Ser83Asn	missense variant	-	NC_000017.11:g.17512616C>T	ExAC,gnomAD
rs1332460817	p.Leu84Val	missense variant	-	NC_000017.11:g.17512614G>C	gnomAD
rs766369958	p.Pro87Thr	missense variant	-	NC_000017.11:g.17512605G>T	ExAC,gnomAD
rs1055467279	p.Ala88Thr	missense variant	-	NC_000017.11:g.17512602C>T	TOPMed,gnomAD
rs773175169	p.Ala88Val	missense variant	-	NC_000017.11:g.17512601G>A	ExAC,TOPMed,gnomAD
rs773175169	p.Ala88Glu	missense variant	-	NC_000017.11:g.17512601G>T	ExAC,TOPMed,gnomAD
rs769859641	p.Ala89Gly	missense variant	-	NC_000017.11:g.17512598G>C	ExAC,TOPMed,gnomAD
rs903489785	p.Ala89Ser	missense variant	-	NC_000017.11:g.17512599C>A	gnomAD
rs1174167961	p.Ser91Cys	missense variant	-	NC_000017.11:g.17512593T>A	TOPMed,gnomAD
rs777030361	p.Ser91Ile	missense variant	-	NC_000017.11:g.17512592C>A	ExAC
rs1456246139	p.Gly93Asp	missense variant	-	NC_000017.11:g.17512586C>T	gnomAD
rs983040006	p.Leu94Phe	missense variant	-	NC_000017.11:g.17512584G>A	TOPMed
rs758836292	p.Ala95Glu	missense variant	-	NC_000017.11:g.17512580G>T	ExAC,TOPMed,gnomAD
rs758836292	p.Ala95Val	missense variant	-	NC_000017.11:g.17512580G>A	ExAC,TOPMed,gnomAD
rs780565434	p.Ala95Thr	missense variant	-	NC_000017.11:g.17512581C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu96Pro	missense variant	-	NC_000017.11:g.17512577A>G	NCI-TCGA
rs1446557913	p.Gly100Val	missense variant	-	NC_000017.11:g.17512565C>A	gnomAD
rs1336774178	p.Val101Ile	missense variant	-	NC_000017.11:g.17512563C>T	TOPMed,gnomAD
rs200896808	p.Val102Met	missense variant	-	NC_000017.11:g.17512560C>T	TOPMed,gnomAD
rs572671874	p.Val104Met	missense variant	-	NC_000017.11:g.17512554C>T	ExAC,TOPMed,gnomAD
rs572671874	p.Val104Leu	missense variant	-	NC_000017.11:g.17512554C>A	ExAC,TOPMed,gnomAD
rs572671874	p.Val104Leu	missense variant	-	NC_000017.11:g.17512554C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser106Pro	missense variant	-	NC_000017.11:g.17512548A>G	NCI-TCGA
rs751359333	p.Ser106Phe	missense variant	-	NC_000017.11:g.17512547G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser107Gly	missense variant	-	NC_000017.11:g.17512545T>C	NCI-TCGA
NCI-TCGA novel	p.Phe108Leu	missense variant	-	NC_000017.11:g.17512540G>T	NCI-TCGA
rs1238969900	p.Phe108Leu	missense variant	-	NC_000017.11:g.17512542A>G	gnomAD
rs750332530	p.Gly112Glu	missense variant	-	NC_000017.11:g.17512529C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe113Leu	missense variant	-	NC_000017.11:g.17512527A>G	NCI-TCGA
rs70963100	p.Phe113Leu	missense variant	-	NC_000017.11:g.17512525G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1232985454	p.Ala114Thr	missense variant	-	NC_000017.11:g.17512524C>T	TOPMed
rs769070914	p.Phe117Leu	missense variant	-	NC_000017.11:g.17512513G>T	ExAC,TOPMed,gnomAD
rs769070914	p.Phe117Leu	missense variant	-	NC_000017.11:g.17512513G>C	ExAC,TOPMed,gnomAD
rs765279907	p.Asp120Asn	missense variant	-	NC_000017.11:g.17509543C>T	ExAC,gnomAD
rs527440904	p.Asp120Glu	missense variant	-	NC_000017.11:g.17509541A>C	1000Genomes,ExAC,gnomAD
rs1310346016	p.Asp120Gly	missense variant	-	NC_000017.11:g.17509542T>C	TOPMed
rs773288219	p.Gly123Arg	missense variant	-	NC_000017.11:g.17509534C>T	ExAC,TOPMed,gnomAD
rs761000841	p.Lys126Glu	missense variant	-	NC_000017.11:g.17509525T>C	ExAC,TOPMed,gnomAD
rs775814752	p.Glu127Asp	missense variant	-	NC_000017.11:g.17509520C>G	ExAC,TOPMed
rs775814752	p.Glu127Asp	missense variant	-	NC_000017.11:g.17509520C>A	ExAC,TOPMed
rs898456993	p.Ala128Val	missense variant	-	NC_000017.11:g.17509518G>A	TOPMed,gnomAD
COSM4847461	p.Arg129Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17509515C>T	NCI-TCGA Cosmic
rs1474440611	p.Thr131Ile	missense variant	-	NC_000017.11:g.17509509G>A	gnomAD
rs551149216	p.Val132Met	missense variant	-	NC_000017.11:g.17509507C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1451451882	p.Phe133Leu	missense variant	-	NC_000017.11:g.17509502G>T	gnomAD
COSM3514728	p.Pro134Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17509501G>A	NCI-TCGA Cosmic
rs1271654153	p.Pro134Arg	missense variant	-	NC_000017.11:g.17509500G>C	gnomAD
rs771472389	p.Leu138Pro	missense variant	-	NC_000017.11:g.17509488A>G	ExAC,gnomAD
rs780701812	p.Asp139Gly	missense variant	-	NC_000017.11:g.17509485T>C	ExAC
rs368744924	p.Asp139Asn	missense variant	-	NC_000017.11:g.17509486C>T	ESP,ExAC,TOPMed,gnomAD
COSM4064318	p.Asn140Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17509482T>C	NCI-TCGA Cosmic
rs768110311	p.Met142Arg	missense variant	-	NC_000017.11:g.17509476A>C	ExAC,TOPMed,gnomAD
rs1275127787	p.Tyr143Cys	missense variant	-	NC_000017.11:g.17509473T>C	gnomAD
rs542555509	p.Gly145Arg	missense variant	-	NC_000017.11:g.17509468C>T	ExAC,TOPMed,gnomAD
rs1167456272	p.Thr147Pro	missense variant	-	NC_000017.11:g.17509462T>G	TOPMed
rs1375943141	p.Thr147Ile	missense variant	-	NC_000017.11:g.17509461G>A	TOPMed
rs779802778	p.Asn149Lys	missense variant	-	NC_000017.11:g.17509454G>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr150Cys	missense variant	-	NC_000017.11:g.17509452T>C	NCI-TCGA
rs1416562852	p.Tyr150Asn	missense variant	-	NC_000017.11:g.17509453A>T	TOPMed
rs1168193156	p.Gly152Val	missense variant	-	NC_000017.11:g.17509446C>A	gnomAD
rs757977448	p.Gly152Ser	missense variant	-	NC_000017.11:g.17509447C>T	ExAC,gnomAD
rs1408325210	p.Met156Thr	missense variant	-	NC_000017.11:g.17509434A>G	gnomAD
rs770166319	p.His157Tyr	missense variant	-	NC_000017.11:g.17506300G>A	gnomAD
rs1380670626	p.His157Arg	missense variant	-	NC_000017.11:g.17506299T>C	gnomAD
rs1436019166	p.Ala158Thr	missense variant	-	NC_000017.11:g.17506297C>T	gnomAD
rs1436019166	p.Ala158Ser	missense variant	-	NC_000017.11:g.17506297C>A	gnomAD
COSM3691389	p.Ala158Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000017.11:g.17506296G>A	NCI-TCGA Cosmic
rs866534197	p.Ser159Ile	missense variant	-	NC_000017.11:g.17506293C>A	TOPMed,gnomAD
rs866534197	p.Ser159Asn	missense variant	-	NC_000017.11:g.17506293C>T	TOPMed,gnomAD
rs866534197	p.Ser159Thr	missense variant	-	NC_000017.11:g.17506293C>G	TOPMed,gnomAD
rs1486021934	p.Pro160Thr	missense variant	-	NC_000017.11:g.17506291G>T	gnomAD
rs1486021934	p.Pro160Ser	missense variant	-	NC_000017.11:g.17506291G>A	gnomAD
rs570152739	p.Thr161Met	missense variant	-	NC_000017.11:g.17506287G>A	1000Genomes,ExAC,gnomAD
rs570152739	p.Thr161Lys	missense variant	-	NC_000017.11:g.17506287G>T	1000Genomes,ExAC,gnomAD
rs1055292388	p.Thr166Lys	missense variant	-	NC_000017.11:g.17506272G>T	TOPMed,gnomAD
rs1055292388	p.Thr166Met	missense variant	-	NC_000017.11:g.17506272G>A	TOPMed,gnomAD
rs1221217569	p.Thr166Ala	missense variant	-	NC_000017.11:g.17506273T>C	TOPMed,gnomAD
rs758611919	p.Leu168Pro	missense variant	-	NC_000017.11:g.17506266A>G	ExAC,TOPMed,gnomAD
rs758611919	p.Leu168Arg	missense variant	-	NC_000017.11:g.17506266A>C	ExAC,TOPMed,gnomAD
rs750794228	p.Ala170Asp	missense variant	-	NC_000017.11:g.17506260G>T	ExAC,gnomAD
rs1421140122	p.Leu171Arg	missense variant	-	NC_000017.11:g.17506257A>C	gnomAD
rs765530757	p.Leu171Phe	missense variant	-	NC_000017.11:g.17506258G>A	ExAC,gnomAD
rs1385150449	p.Tyr173His	missense variant	-	NC_000017.11:g.17506252A>G	gnomAD
rs1157801889	p.Tyr173Ter	stop gained	-	NC_000017.11:g.17506250G>T	gnomAD
rs754264432	p.Ile174Met	missense variant	-	NC_000017.11:g.17506247T>C	ExAC,gnomAD
rs762407702	p.Ile174Thr	missense variant	-	NC_000017.11:g.17506248A>G	ExAC,gnomAD
rs7946	p.Val175Met	missense variant	-	NC_000017.11:g.17506246C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1475609173	p.Ala176Thr	missense variant	-	NC_000017.11:g.17506243C>T	gnomAD
rs1256891212	p.Leu177Phe	missense variant	-	NC_000017.11:g.17506240G>A	gnomAD
rs530726227	p.Leu177Pro	missense variant	-	NC_000017.11:g.17506239A>G	1000Genomes,ExAC,gnomAD
rs376787997	p.Glu180Lys	missense variant	-	NC_000017.11:g.17506231C>T	ESP,ExAC,TOPMed,gnomAD
rs773162423	p.Glu181Gln	missense variant	-	NC_000017.11:g.17506228C>G	ExAC,gnomAD
rs777982658	p.Pro182Ser	missense variant	-	NC_000017.11:g.17505847G>A	ExAC,gnomAD
rs1194684748	p.Pro182Arg	missense variant	-	NC_000017.11:g.17505846G>C	gnomAD
NCI-TCGA novel	p.Thr184Pro	missense variant	-	NC_000017.11:g.17505841T>G	NCI-TCGA
rs772103277	p.Thr184Ile	missense variant	-	NC_000017.11:g.17505840G>A	ExAC,gnomAD
rs375372363	p.Ala185Thr	missense variant	-	NC_000017.11:g.17505838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1307640473	p.Glu186Ala	missense variant	-	NC_000017.11:g.17505834T>G	TOPMed,gnomAD
rs757489116	p.Ile187Val	missense variant	-	NC_000017.11:g.17505832T>C	ExAC,gnomAD
rs140621950	p.Arg189Trp	missense variant	-	NC_000017.11:g.17505826G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147868279	p.Arg189Leu	missense variant	-	NC_000017.11:g.17505825C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147868279	p.Arg189Gln	missense variant	-	NC_000017.11:g.17505825C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768106458	p.Ala192Val	missense variant	-	NC_000017.11:g.17505816G>A	ExAC,gnomAD
rs768106458	p.Ala192Gly	missense variant	-	NC_000017.11:g.17505816G>C	ExAC,gnomAD
rs1368492898	p.Gly194Val	missense variant	-	NC_000017.11:g.17505810C>A	TOPMed,gnomAD
rs70965427	p.Gly194Arg	missense variant	-	NC_000017.11:g.17505811C>T	1000Genomes,ESP,TOPMed,gnomAD
rs749935587	p.Lys197Glu	missense variant	-	NC_000017.11:g.17505802T>C	ExAC,gnomAD
rs761459437	p.Ser199Asn	missense variant	-	NC_000017.11:g.17505795C>T	ExAC,gnomAD
rs764861768	p.Ser199Cys	missense variant	-	NC_000017.11:g.17505796T>A	ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0008412	Choline Deficiency	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0015695	Fatty Liver	disease	BEFREE
C0019880	Homocystinuria	disease	BEFREE
C0023895	Liver diseases	group	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0028754	Obesity	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;LHGDN;PSYGENET
C0155765	Disease of capillaries	group	BEFREE
C0205682	Waist-Hip Ratio	phenotype	GWASCAT
C0268238	Triglyceride storage disease with ichthyosis	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0345904	Malignant neoplasm of liver	disease	BEFREE
C0400966	Non-alcoholic Fatty Liver Disease	disease	BEFREE
C0578022	Finding of body mass index	phenotype	GWASCAT
C0678222	Breast Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0751202	Cystathionine beta-Synthase Deficiency Disease	disease	BEFREE
C1305855	Body mass index	phenotype	GWASCAT
C1458155	Mammary Neoplasms	group	LHGDN
C2239176	Liver carcinoma	disease	BEFREE
C2711227	Steatohepatitis	disease	BEFREE
C2718067	Alcoholic Steatohepatitis	disease	BEFREE
C3241937	Nonalcoholic Steatohepatitis	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000773	phosphatidyl-N-methylethanolamine N-methyltransferase activity	IEA
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	IBA
GO:0004608	phosphatidylethanolamine N-methyltransferase activity	TAS
GO:0008429	phosphatidylethanolamine binding	IEA
GO:0080101	phosphatidyl-N-dimethylethanolamine N-methyltransferase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001835	blastocyst hatching	IEA
GO:0006656	phosphatidylcholine biosynthetic process	IEA
GO:0006656	phosphatidylcholine biosynthetic process	IBA
GO:0006656	phosphatidylcholine biosynthetic process	TAS
GO:0006686	sphingomyelin biosynthetic process	IEA
GO:0008285	negative regulation of cell population proliferation	IEA
GO:0032259	methylation	IEA
GO:0033273	response to vitamin	IEA
GO:0043200	response to amino acid	IEA
GO:0045471	response to ethanol	IEA
GO:0046498	S-adenosylhomocysteine metabolic process	IEA
GO:0046500	S-adenosylmethionine metabolic process	IEA
GO:0050747	positive regulation of lipoprotein metabolic process	IEA
GO:0120162	positive regulation of cold-induced thermogenesis	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0016021	integral component of membrane	IEA
GO:0031526	brush border membrane	IEA
GO:0031966	mitochondrial membrane	IEA
GO:0042383	sarcolemma	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1483191	Synthesis of PC	TAS
R-HSA-1483206	Glycerophospholipid biosynthesis	TAS
R-HSA-1483257	Phospholipid metabolism	TAS
R-HSA-556833	Metabolism of lipids	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of PEMT mRNA	21346803
C029370	4-toluidine	4-toluidine results in decreased expression of PEMT mRNA	27638505
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of PEMT mRNA	22485181
D000082	Acetaminophen	Acetaminophen results in decreased expression of PEMT mRNA	22230336; 25704631;
D000082	Acetaminophen	Acetaminophen affects the expression of PEMT mRNA	17562736
D000082	Acetaminophen	[Clofibrate co-treated with Acetaminophen] affects the expression of PEMT mRNA	17585979
D000082	Acetaminophen	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of PEMT mRNA]	17585979
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of PEMT protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PEMT intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of PEMT mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PEMT intron	30157460
D001151	Arsenic	PEMT gene SNP affects the susceptibility to Arsenic	25759212
D001280	Atrazine	Atrazine results in decreased expression of PEMT mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PEMT mRNA	26238291
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PEMT mRNA	19770486
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of PEMT intron	30157460
C006780	bisphenol A	bisphenol A results in increased expression of PEMT mRNA	29275510
C006780	bisphenol A	bisphenol A results in increased expression of PEMT mRNA	31453682
C006780	bisphenol A	bisphenol A affects the expression of PEMT mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of PEMT mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of PEMT mRNA	30816183
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of PEMT mRNA	23741332
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PEMT mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of PEMT mRNA]	31150632
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of PEMT mRNA	23650126
D002794	Choline	PEMT gene SNP affects the susceptibility to Choline	17616785
D002994	Clofibrate	[Clofibrate co-treated with Acetaminophen] affects the expression of PEMT mRNA	17585979
D002994	Clofibrate	Clofibrate results in decreased expression of PEMT mRNA	17585979
D002994	Clofibrate	PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of PEMT mRNA]	17585979
D002995	Clofibric Acid	Clofibric Acid affects the expression of PEMT mRNA	17602206
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PEMT mRNA	19376846
D016572	Cyclosporine	Cyclosporine results in increased expression of PEMT mRNA	25562108
D016572	Cyclosporine	Cyclosporine results in decreased expression of PEMT mRNA	19770486
D004041	Dietary Fats	[Dietary Fats co-treated with Fructose] results in increased expression of PEMT mRNA	29416063
D004041	Dietary Fats	PEMT protein promotes the reaction [AHR protein results in increased susceptibility to [Dietary Fats co-treated with Fructose]]	29416063
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of PEMT mRNA	28943392
D004052	Diethylnitrosamine	Diethylnitrosamine results in decreased expression of PEMT mRNA	19638242
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in decreased expression of PEMT mRNA	27638505
D004317	Doxorubicin	Doxorubicin results in decreased expression of PEMT mRNA	29803840
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of PEMT mRNA	20660070
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of PEMT mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PEMT mRNA	17942748
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of PEMT mRNA	23649840
D011345	Fenofibrate	Fenofibrate results in increased expression of PEMT mRNA	25572481
D005557	Formaldehyde	Formaldehyde results in decreased expression of PEMT mRNA	23649840
D005632	Fructose	[Dietary Fats co-treated with Fructose] results in increased expression of PEMT mRNA	29416063
D005632	Fructose	PEMT protein promotes the reaction [AHR protein results in increased susceptibility to [Dietary Fats co-treated with Fructose]]	29416063
C412815	GW 4064	GW 4064 results in decreased expression of PEMT mRNA	29416063
C412815	GW 4064	NR0B2 protein promotes the reaction [GW 4064 results in decreased expression of PEMT mRNA]	29416063
D007213	Indomethacin	Indomethacin results in increased expression of PEMT mRNA	28201806
C544151	jinfukang	jinfukang results in increased expression of PEMT mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PEMT mRNA	22904298; 23430699; 24297863; 26752646;
C410337	K 7174	K 7174 results in decreased expression of PEMT mRNA	24086573
D008694	Methamphetamine	Methamphetamine results in increased expression of PEMT mRNA	29802913
D008694	Methamphetamine	[Methamphetamine co-treated with SCH 23390] results in decreased expression of PEMT mRNA	19564919
D008694	Methamphetamine	Methamphetamine results in decreased expression of PEMT mRNA	19564919
D008701	Methapyrilene	Methapyrilene results in increased methylation of PEMT intron	30157460
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PEMT mRNA	23458150
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PEMT mRNA	23649840
D015735	Mifepristone	Mifepristone results in decreased expression of PEMT mRNA	17584828
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of PEMT mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of PEMT mRNA	25554681
C012655	nimesulide	nimesulide results in decreased expression of PEMT mRNA	24136188
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of PEMT mRNA	26251327
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of PEMT mRNA	17681415
D010713	Phosphatidylcholines	PEMT protein promotes the reaction [AHR protein results in increased abundance of Phosphatidylcholines]	29416063
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PEMT mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of PEMT mRNA	23811191
D010936	Plant Extracts	Plant Extracts results in decreased expression of PEMT mRNA	24677778
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of PEMT mRNA	22714537
D017035	Pravastatin	Pravastatin results in decreased expression of PEMT mRNA	27225895
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in decreased expression of PEMT mRNA	19162173
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of PEMT mRNA	20660070
D011374	Progesterone	Progesterone results in increased expression of PEMT mRNA	20864642
D012435	S-Adenosylhomocysteine	PEMT protein promotes the reaction [AHR protein results in increased abundance of S-Adenosylhomocysteine]	29416063
D012436	S-Adenosylmethionine	PEMT protein promotes the reaction [AHR protein results in decreased abundance of S-Adenosylmethionine]	29416063
D012524	Sarin	Sarin results in decreased expression of PEMT mRNA	19522546
C534628	SCH 23390	[Methamphetamine co-treated with SCH 23390] results in decreased expression of PEMT mRNA	19564919
C534628	SCH 23390	SCH 23390 results in decreased expression of PEMT mRNA	19564919
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of PEMT mRNA]	31150632
C075117	squalestatin 1	squalestatin 1 results in decreased expression of PEMT mRNA	27225895
D013311	Streptozocin	Streptozocin affects the expression of PEMT mRNA	18583417
D013311	Streptozocin	Streptozocin results in increased activity of PEMT protein	16835399
D000077210	Sunitinib	Sunitinib results in increased expression of PEMT mRNA	31533062
D013629	Tamoxifen	Tamoxifen promotes the reaction [[SP1 protein binds to PEMT promoter] which results in decreased expression of PEMT mRNA]	20150657; 20150657;
D013629	Tamoxifen	Tamoxifen results in decreased expression of PEMT mRNA	25123088
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PEMT mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PEMT gene]	28213091
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to PEMT promoter]	19654925
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PEMT mRNA	19770486; 28213091; 28238261;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PEMT mRNA	16054898; 16960034; 21724226;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of PEMT mRNA	26232522
D013853	Thioacetamide	[Diethylnitrosamine co-treated with Thioacetamide] results in decreased expression of PEMT mRNA	28943392
D013853	Thioacetamide	Thioacetamide results in decreased expression of PEMT mRNA	23411599
C009495	titanium dioxide	titanium dioxide results in increased expression of PEMT mRNA	23557971
D014212	Tretinoin	Tretinoin results in decreased expression of PEMT mRNA	23724009
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of PEMT mRNA	19448997
D014260	Triclosan	Triclosan results in increased expression of PEMT mRNA	29596926
D014280	Triglycerides	PEMT protein promotes the reaction [AHR protein results in increased abundance of Triglycerides]	29416063
D000077288	Troglitazone	Troglitazone results in increased expression of PEMT mRNA	25572481
D000077288	Troglitazone	Troglitazone results in decreased expression of PEMT mRNA	12732648
D000077288	Troglitazone	[Troglitazone co-treated with TNF protein] results in decreased expression of PEMT mRNA	12732648
D014635	Valproic Acid	Valproic Acid affects the expression of PEMT mRNA	25979313
D014810	Vitamin E	Vitamin E results in increased expression of PEMT mRNA	19244175
D015032	Zinc	Zinc results in increased expression of PEMT mRNA	19071009

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0256	Endoplasmic reticulum
KW-0444	Lipid biosynthesis
KW-0443	Lipid metabolism
KW-0472	Membrane
KW-0489	Methyltransferase
KW-0496	Mitochondrion
KW-0594	Phospholipid biosynthesis
KW-1208	Phospholipid metabolism
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0949	S-adenosyl-L-methionine
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR024960	PEMT/MFAP
IPR007318	Phopholipid_MeTrfase

PROSITE

PROSITE ID	PROSITE Term
PS51599	SAM_PEMT_PEM2

Pfam

Pfam ID	Pfam Term
PF04191	PEMT

Gene: PEMT

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