CleftGeneDB-Search

Gene: TMEM19

Basic information

Tag	Content
Uniprot ID	Q96HH6; B2RDL2; Q53FY3; Q9NV41;
Entrez ID	55266
Genbank protein ID	EAW97266.1; BAA91918.1; BAD96868.1; BAG37959.1; AAH08596.1;
Genbank nucleotide ID	NM_018279.3
Ensembl protein ID	ENSP00000266673; ENSP00000449955;
Ensembl nucleotide ID	ENSG00000139291
Gene name	Transmembrane protein 19
Gene symbol	TMEM19
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	28232668
Functional description
Sequence	MTDLNDNICK RYIKMITNIV ILSLIICISL AFWIISMTAS TYYGNLRPIS PWRWLFSVVV 60 PVLIVSNGLK KKSLDHSGAL GGLVVGFILT IANFSFFTSL LMFFLSSSKL TKWKGEVKKR 120 LDSEYKEGGQ RNWVQVFCNG AVPTELALLY MIENGPGEIP VDFSKQYSAS WMCLSLLAAL 180 ACSAGDTWAS EVGPVLSKSS PRLITTWEKV PVGTNGGVTV VGLVSSLLGG TFVGIAYFLT 240 QLIFVNDLDI SAPQWPIIAF GGLAGLLGSI VDSYLGATMQ YTGLDESTGM VVNSPTNKAR 300 HIAGKPILDN NAVNLFSSVL IALLLPTAAW GFWPRG 336

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

Protein disorder visualization from D2P2 is currently unavailable.

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	TMEM19	538974	A7E3R1	Bos taurus	Prediction	More>>
1:1 ortholog	TMEM19		A0A452FPZ7	Capra hircus	Prediction	More>>
1:1 ortholog	TMEM19	55266	Q96HH6	Homo sapiens	Publication	More>>
1:1 ortholog	Tmem19		A0A1W2P7P6	Mus musculus	Prediction	More>>
1:1 ortholog	TMEM19	452078	A0A2I3SMV0	Pan troglodytes	Prediction	More>>
1:1 ortholog	TMEM19	100343889	G1T3J4	Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog			A0A0G2L6U7	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
TMEM19	rs2304269A>G	GWAS	28232668
TMEM19	rs7967428A>G	GWAS	28232668

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs774514491	p.Thr2Ile	missense variant	-	NC_000012.12:g.71686685C>T	ExAC,gnomAD
rs371734502	p.Asp3Ala	missense variant	-	NC_000012.12:g.71686688A>C	ESP,ExAC,TOPMed,gnomAD
rs1411417897	p.Asp6Gly	missense variant	-	NC_000012.12:g.71686697A>G	gnomAD
rs1419905789	p.Asp6Asn	missense variant	-	NC_000012.12:g.71686696G>A	gnomAD
rs768378170	p.Asn7Asp	missense variant	-	NC_000012.12:g.71686699A>G	ExAC,gnomAD
rs544264753	p.Asn7Ser	missense variant	-	NC_000012.12:g.71686700A>G	1000Genomes,TOPMed
rs768378170	p.Asn7His	missense variant	-	NC_000012.12:g.71686699A>C	ExAC,gnomAD
rs761737401	p.Ile8Thr	missense variant	-	NC_000012.12:g.71686703T>C	ExAC,gnomAD
rs1359127741	p.Cys9Ter	stop gained	-	NC_000012.12:g.71686707C>A	TOPMed
rs773253602	p.Arg11Ile	missense variant	-	NC_000012.12:g.71686712G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg11Lys	missense variant	-	NC_000012.12:g.71686712G>A	NCI-TCGA
rs1331026163	p.Ile13Val	missense variant	-	NC_000012.12:g.71686717A>G	gnomAD
rs1284002528	p.Met15Ile	missense variant	-	NC_000012.12:g.71686725G>A	gnomAD
rs766018189	p.Met15Val	missense variant	-	NC_000012.12:g.71686723A>G	ExAC,gnomAD
rs751209495	p.Ile16Leu	missense variant	-	NC_000012.12:g.71686726A>T	ExAC,gnomAD
rs148461856	p.Ile19Thr	missense variant	-	NC_000012.12:g.71686736T>C	ESP,ExAC,gnomAD
COSM943274	p.Val20Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71686738G>T	NCI-TCGA Cosmic
rs1204391664	p.Ile21Val	missense variant	-	NC_000012.12:g.71686741A>G	gnomAD
rs1440653097	p.Ile25Val	missense variant	-	NC_000012.12:g.71686753A>G	gnomAD
rs1186703212	p.Ile25Thr	missense variant	-	NC_000012.12:g.71686754T>C	gnomAD
rs756549553	p.Ile26Val	missense variant	-	NC_000012.12:g.71686756A>G	ExAC,gnomAD
rs778107523	p.Ile28Leu	missense variant	-	NC_000012.12:g.71686762A>C	ExAC
rs34694164	p.Leu30Phe	missense variant	-	NC_000012.12:g.71686770A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757275716	p.Phe32Leu	missense variant	-	NC_000012.12:g.71686774T>C	ExAC,TOPMed,gnomAD
rs778975423	p.Ile35Val	missense variant	-	NC_000012.12:g.71686783A>G	ExAC,TOPMed,gnomAD
rs746025972	p.Ile35Met	missense variant	-	NC_000012.12:g.71686785A>G	ExAC,gnomAD
rs772279188	p.Ser36Leu	missense variant	-	NC_000012.12:g.71686787C>T	ExAC,gnomAD
rs1392862917	p.Met37Val	missense variant	-	NC_000012.12:g.71686789A>G	TOPMed
NCI-TCGA novel	p.Met37Ile	missense variant	-	NC_000012.12:g.71686791G>T	NCI-TCGA
rs1413373795	p.Ser40Asn	missense variant	-	NC_000012.12:g.71686799G>A	gnomAD
COSM3792952	p.Ser40Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71686800C>A	NCI-TCGA Cosmic
rs199711484	p.Thr41Ile	missense variant	-	NC_000012.12:g.71686802C>T	ESP,ExAC,TOPMed,gnomAD
rs199711484	p.Thr41Asn	missense variant	-	NC_000012.12:g.71686802C>A	ESP,ExAC,TOPMed,gnomAD
rs1438939204	p.Tyr42His	missense variant	-	NC_000012.12:g.71686804T>C	TOPMed
rs747877936	p.Tyr43Phe	missense variant	-	NC_000012.12:g.71686808A>T	ExAC,TOPMed,gnomAD
rs151006044	p.Leu46Phe	missense variant	-	NC_000012.12:g.71689598A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143587024	p.Arg47Gln	missense variant	-	NC_000012.12:g.71689600G>A	ESP,ExAC,TOPMed,gnomAD
rs139987159	p.Arg47Ter	stop gained	-	NC_000012.12:g.71689599C>T	ESP,ExAC,TOPMed,gnomAD
rs373199946	p.Pro51Leu	missense variant	-	NC_000012.12:g.71689612C>T	ESP,ExAC,TOPMed,gnomAD
rs373199946	p.Pro51Leu	missense variant	-	NC_000012.12:g.71689612C>T	NCI-TCGA
rs770976603	p.Trp52Arg	missense variant	-	NC_000012.12:g.71689614T>A	ExAC,gnomAD
rs1028721416	p.Arg53His	missense variant	-	NC_000012.12:g.71689618G>A	TOPMed,gnomAD
rs1028721416	p.Arg53His	missense variant	-	NC_000012.12:g.71689618G>A	NCI-TCGA
rs774479268	p.Arg53Cys	missense variant	-	NC_000012.12:g.71689617C>T	ExAC,gnomAD
rs1380211305	p.Trp54Cys	missense variant	-	NC_000012.12:g.71689622G>T	TOPMed,gnomAD
rs1458796868	p.Ser57Ala	missense variant	-	NC_000012.12:g.71689629T>G	gnomAD
rs80148012	p.Val58Ile	missense variant	-	NC_000012.12:g.71689632G>A	TOPMed,gnomAD
rs80148012	p.Val58Phe	missense variant	-	NC_000012.12:g.71689632G>T	TOPMed,gnomAD
rs759085407	p.Val59Ala	missense variant	-	NC_000012.12:g.71689636T>C	ExAC,gnomAD
rs771734950	p.Val60Gly	missense variant	-	NC_000012.12:g.71689639T>G	ExAC,TOPMed,gnomAD
rs774952942	p.Pro61Leu	missense variant	-	NC_000012.12:g.71689642C>T	ExAC,gnomAD
rs764296039	p.Ile64Asn	missense variant	-	NC_000012.12:g.71689651T>A	ExAC,TOPMed,gnomAD
rs541328998	p.Val65Ile	missense variant	-	NC_000012.12:g.71689653G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1263399840	p.Asn67Ser	missense variant	-	NC_000012.12:g.71689660A>G	gnomAD
NCI-TCGA novel	p.Leu69Ile	missense variant	-	NC_000012.12:g.71689665C>A	NCI-TCGA
rs1355236915	p.Lys71Arg	missense variant	-	NC_000012.12:g.71689672A>G	gnomAD
rs765714677	p.Leu74Gln	missense variant	-	NC_000012.12:g.71689681T>A	ExAC,TOPMed,gnomAD
rs933171598	p.Leu74Val	missense variant	-	NC_000012.12:g.71689680C>G	TOPMed
rs765714677	p.Leu74Pro	missense variant	-	NC_000012.12:g.71689681T>C	ExAC,TOPMed,gnomAD
rs1213131908	p.Gly78Glu	missense variant	-	NC_000012.12:g.71689693G>A	TOPMed
rs750972285	p.Ala79Asp	missense variant	-	NC_000012.12:g.71689696C>A	ExAC,TOPMed,gnomAD
rs750972285	p.Ala79Val	missense variant	-	NC_000012.12:g.71689696C>T	ExAC,TOPMed,gnomAD
rs1456105801	p.Ala79Thr	missense variant	-	NC_000012.12:g.71689695G>A	gnomAD
rs758433045	p.Leu80Val	missense variant	-	NC_000012.12:g.71689698C>G	ExAC,gnomAD
rs751675599	p.Gly82Trp	missense variant	-	NC_000012.12:g.71689704G>T	ExAC,gnomAD
rs755060805	p.Val84Ile	missense variant	-	NC_000012.12:g.71696441G>A	ExAC,gnomAD
rs150015329	p.Val85Ile	missense variant	-	NC_000012.12:g.71696444G>A	ESP,ExAC,TOPMed,gnomAD
rs145311574	p.Ile88Phe	missense variant	-	NC_000012.12:g.71696453A>T	ESP,ExAC,TOPMed,gnomAD
COSM1649008	p.Leu89Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71696457T>C	NCI-TCGA Cosmic
rs778860497	p.Ile91Thr	missense variant	-	NC_000012.12:g.71696463T>C	ExAC,gnomAD
rs1359773423	p.Ile91Val	missense variant	-	NC_000012.12:g.71696462A>G	gnomAD
rs200979424	p.Asn93His	missense variant	-	NC_000012.12:g.71696468A>C	1000Genomes
rs745730149	p.Phe96Val	missense variant	-	NC_000012.12:g.71696477T>G	ExAC,gnomAD
rs772038769	p.Ser99Thr	missense variant	-	NC_000012.12:g.71696486T>A	ExAC,TOPMed,gnomAD
rs200510701	p.Met102Leu	missense variant	-	NC_000012.12:g.71696495A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200510701	p.Met102Leu	missense variant	-	NC_000012.12:g.71696495A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1217589298	p.Leu105Ser	missense variant	-	NC_000012.12:g.71696505T>C	gnomAD
rs143199994	p.Leu105Met	missense variant	-	NC_000012.12:g.71696504T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771802343	p.Ser106Pro	missense variant	-	NC_000012.12:g.71696507T>C	gnomAD
rs776229168	p.Ser108Leu	missense variant	-	NC_000012.12:g.71696514C>T	ExAC,TOPMed,gnomAD
rs770085977	p.Thr111Ile	missense variant	-	NC_000012.12:g.71696523C>T	ExAC,gnomAD
rs773573209	p.Lys114Thr	missense variant	-	NC_000012.12:g.71696532A>C	ExAC,gnomAD
rs763295574	p.Gly115Arg	missense variant	-	NC_000012.12:g.71696534G>C	ExAC,gnomAD
rs766886261	p.Glu116Ala	missense variant	-	NC_000012.12:g.71696538A>C	ExAC,TOPMed,gnomAD
rs371073401	p.Lys118Gln	missense variant	-	NC_000012.12:g.71696543A>C	ESP,TOPMed,gnomAD
rs564346366	p.Arg120His	missense variant	-	NC_000012.12:g.71696550G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767516246	p.Arg120Gly	missense variant	-	NC_000012.12:g.71696549C>G	ExAC,TOPMed,gnomAD
rs767516246	p.Arg120Cys	missense variant	-	NC_000012.12:g.71696549C>T	ExAC,TOPMed,gnomAD
rs1420180246	p.Ser123Leu	missense variant	-	NC_000012.12:g.71696559C>T	gnomAD
rs1363435164	p.Glu124Val	missense variant	-	NC_000012.12:g.71696562A>T	TOPMed
rs1299839944	p.Tyr125His	missense variant	-	NC_000012.12:g.71696564T>C	gnomAD
rs929537936	p.Gly128Ser	missense variant	-	NC_000012.12:g.71696573G>A	TOPMed
rs375412302	p.Gly128Ala	missense variant	-	NC_000012.12:g.71697280G>C	ESP,ExAC
rs1290974341	p.Gly129Arg	missense variant	-	NC_000012.12:g.71697282G>A	gnomAD
rs1219694406	p.Gln130Ter	stop gained	-	NC_000012.12:g.71697285C>T	gnomAD
rs1252582919	p.Asn132Ser	missense variant	-	NC_000012.12:g.71697292A>G	gnomAD
rs1252582919	p.Asn132Ile	missense variant	-	NC_000012.12:g.71697292A>T	gnomAD
rs1180579745	p.Val134Ile	missense variant	-	NC_000012.12:g.71697297G>A	gnomAD
rs1158995101	p.Asn139Lys	missense variant	-	NC_000012.12:g.71697314T>G	TOPMed
NCI-TCGA novel	p.Gly140Glu	missense variant	-	NC_000012.12:g.71697316G>A	NCI-TCGA
rs754877659	p.Ala141Val	missense variant	-	NC_000012.12:g.71697319C>T	ExAC,TOPMed,gnomAD
rs747645355	p.Val142Ala	missense variant	-	NC_000012.12:g.71697322T>C	ExAC,TOPMed,gnomAD
rs1163650096	p.Val142Leu	missense variant	-	NC_000012.12:g.71697321G>C	gnomAD
rs371931718	p.Pro143Ala	missense variant	-	NC_000012.12:g.71697324C>G	ExAC,TOPMed,gnomAD
rs371931718	p.Pro143Ser	missense variant	-	NC_000012.12:g.71697324C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu145Lys	missense variant	-	NC_000012.12:g.71697330G>A	NCI-TCGA
rs911743215	p.Ala147Ser	missense variant	-	NC_000012.12:g.71697336G>T	TOPMed,gnomAD
rs748914937	p.Leu148Arg	missense variant	-	NC_000012.12:g.71697340T>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr150Cys	missense variant	-	NC_000012.12:g.71697346A>G	NCI-TCGA
rs539895477	p.Met151Val	missense variant	-	NC_000012.12:g.71697348A>G	1000Genomes,ExAC,gnomAD
rs779146167	p.Ile152Val	missense variant	-	NC_000012.12:g.71697351A>G	ExAC,gnomAD
rs1226948765	p.Ile152Met	missense variant	-	NC_000012.12:g.71697353A>G	gnomAD
rs746307669	p.Gly157Arg	missense variant	-	NC_000012.12:g.71697366G>A	ExAC,gnomAD
rs185566519	p.Glu158Lys	missense variant	-	NC_000012.12:g.71697369G>A	1000Genomes,ExAC,gnomAD
rs1269586318	p.Glu158Gly	missense variant	-	NC_000012.12:g.71697370A>G	TOPMed
COSM5832120	p.Glu158LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71697366G>-	NCI-TCGA Cosmic
rs776185157	p.Ile159Val	missense variant	-	NC_000012.12:g.71697372A>G	ExAC,gnomAD
rs751102980	p.Pro160Leu	missense variant	-	NC_000012.12:g.71697376C>T	TOPMed
rs189101751	p.Asp162Asn	missense variant	-	NC_000012.12:g.71697381G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs139343453	p.Ser164Phe	missense variant	-	NC_000012.12:g.71697388C>T	ESP,ExAC,gnomAD
rs141897885	p.Gln166Arg	missense variant	-	NC_000012.12:g.71697394A>G	ESP,ExAC,TOPMed,gnomAD
rs761958790	p.Gln166Ter	stop gained	-	NC_000012.12:g.71697393C>T	ExAC,gnomAD
rs751308913	p.Tyr167Cys	missense variant	-	NC_000012.12:g.71697397A>G	ExAC,gnomAD
COSM1649007	p.Tyr167Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71697398C>A	NCI-TCGA Cosmic
rs1344616206	p.Ser168Tyr	missense variant	-	NC_000012.12:g.71697400C>A	gnomAD
rs759386246	p.Ala169Thr	missense variant	-	NC_000012.12:g.71697402G>A	ExAC,TOPMed,gnomAD
rs767422757	p.Ala169Asp	missense variant	-	NC_000012.12:g.71697403C>A	ExAC,TOPMed,gnomAD
rs369174410	p.Trp171Cys	missense variant	-	NC_000012.12:g.71697410G>C	ESP,ExAC,TOPMed,gnomAD
rs369174410	p.Trp171Ter	stop gained	-	NC_000012.12:g.71697410G>A	ESP,ExAC,TOPMed,gnomAD
rs1212648399	p.Met172Thr	missense variant	-	NC_000012.12:g.71697412T>C	gnomAD
rs753459062	p.Cys173Gly	missense variant	-	NC_000012.12:g.71697414T>G	ExAC,gnomAD
COSM943277	p.Cys173Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71697415G>A	NCI-TCGA Cosmic
rs372043674	p.Leu176Pro	missense variant	-	NC_000012.12:g.71697424T>C	ESP,ExAC,TOPMed,gnomAD
rs1480842467	p.Ala178Thr	missense variant	-	NC_000012.12:g.71697429G>A	TOPMed
rs555318960	p.Ala179Ser	missense variant	-	NC_000012.12:g.71697432G>T	1000Genomes,ExAC,gnomAD
rs1188678224	p.Ala181Val	missense variant	-	NC_000012.12:g.71697439C>T	gnomAD
NCI-TCGA novel	p.Ala181GluPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.71697435_71697447CTGGCCTGCTCTG>-	NCI-TCGA
rs1263577662	p.Cys182Ser	missense variant	-	NC_000012.12:g.71697442G>C	TOPMed,gnomAD
rs1489130203	p.Ala184Ser	missense variant	-	NC_000012.12:g.71697447G>T	gnomAD
NCI-TCGA novel	p.Ala184LeuPheSerTerUnkUnk	frameshift	-	NC_000012.12:g.71697446T>-	NCI-TCGA
rs768803009	p.Gly185Val	missense variant	-	NC_000012.12:g.71697451G>T	ExAC,gnomAD
rs1173748695	p.Trp188Arg	missense variant	-	NC_000012.12:g.71697459T>A	gnomAD
NCI-TCGA novel	p.Trp188Ter	stop gained	-	NC_000012.12:g.71697461G>A	NCI-TCGA
NCI-TCGA novel	p.Trp188Arg	missense variant	-	NC_000012.12:g.71697459T>C	NCI-TCGA
rs762019749	p.Ala189Ser	missense variant	-	NC_000012.12:g.71697462G>T	ExAC,gnomAD
COSM943278	p.Glu191Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71697468G>T	NCI-TCGA Cosmic
rs773534000	p.Gly193Val	missense variant	-	NC_000012.12:g.71697475G>T	ExAC,gnomAD
rs767320759	p.Val195Leu	missense variant	-	NC_000012.12:g.71697480G>C	ExAC,gnomAD
COSM3417113	p.Leu196Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71697483C>A	NCI-TCGA Cosmic
rs752572208	p.Ser197Arg	missense variant	-	NC_000012.12:g.71697488T>A	ExAC,gnomAD
rs1326070347	p.Ser197Asn	missense variant	-	NC_000012.12:g.71697487G>A	gnomAD
rs760610625	p.Lys198Arg	missense variant	-	NC_000012.12:g.71697490A>G	ExAC
rs1216286298	p.Ser199Asn	missense variant	-	NC_000012.12:g.71697493G>A	TOPMed
COSM285798	p.Ser200Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71697496C>A	NCI-TCGA Cosmic
rs764154718	p.Pro201Ser	missense variant	-	NC_000012.12:g.71697498C>T	ExAC,gnomAD
rs753272057	p.Arg202Thr	missense variant	-	NC_000012.12:g.71697502G>C	ExAC,gnomAD
rs1286620673	p.Ile204Val	missense variant	-	NC_000012.12:g.71697507A>G	gnomAD
rs778397424	p.Ile204Met	missense variant	-	NC_000012.12:g.71697509A>G	ExAC,TOPMed,gnomAD
rs750133871	p.Thr205Ile	missense variant	-	NC_000012.12:g.71697511C>T	ExAC
rs1415995713	p.Thr206Ile	missense variant	-	NC_000012.12:g.71697514C>T	gnomAD
rs1260612780	p.Trp207Ter	stop gained	-	NC_000012.12:g.71697518G>A	gnomAD
COSM1364085	p.Trp207Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71697518G>T	NCI-TCGA Cosmic
rs758790110	p.Glu208Asp	missense variant	-	NC_000012.12:g.71697521G>C	ExAC,TOPMed,gnomAD
rs1200398443	p.Val210Ala	missense variant	-	NC_000012.12:g.71697526T>C	gnomAD
rs199575250	p.Val212Ala	missense variant	-	NC_000012.12:g.71697532T>C	ExAC,TOPMed,gnomAD
rs549228941	p.Asn215Ser	missense variant	-	NC_000012.12:g.71698906A>G	1000Genomes,ExAC,gnomAD
rs776667945	p.Gly216Arg	missense variant	-	NC_000012.12:g.71698908G>A	ExAC,gnomAD
COSM695165	p.Gly217Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71698911G>A	NCI-TCGA Cosmic
rs373448030	p.Val224Ile	missense variant	-	NC_000012.12:g.71698932G>A	ESP,ExAC,TOPMed,gnomAD
rs373448030	p.Val224Phe	missense variant	-	NC_000012.12:g.71698932G>T	ESP,ExAC,TOPMed,gnomAD
rs199757316	p.Ser225Phe	missense variant	-	NC_000012.12:g.71698936C>T	ExAC,TOPMed,gnomAD
rs1165278194	p.Ser226Asn	missense variant	-	NC_000012.12:g.71698939G>A	gnomAD
rs200522894	p.Ser226Gly	missense variant	-	NC_000012.12:g.71698938A>G	TOPMed
rs1195263035	p.Leu228Pro	missense variant	-	NC_000012.12:g.71698945T>C	TOPMed
COSM2153483	p.Gly229Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71698947G>A	NCI-TCGA Cosmic
rs751959669	p.Gly230Asp	missense variant	-	NC_000012.12:g.71698951G>A	ExAC,gnomAD
COSM3872454	p.Phe232Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71698956T>C	NCI-TCGA Cosmic
rs781521517	p.Gly234Asp	missense variant	-	NC_000012.12:g.71698963G>A	ExAC,gnomAD
rs376647341	p.Ala236Thr	missense variant	-	NC_000012.12:g.71698968G>A	ESP
rs1272362512	p.Tyr237His	missense variant	-	NC_000012.12:g.71698971T>C	TOPMed
rs1306166351	p.Phe238Tyr	missense variant	-	NC_000012.12:g.71698975T>A	gnomAD
rs200282974	p.Thr240Ala	missense variant	-	NC_000012.12:g.71698980A>G	1000Genomes,ExAC,gnomAD
COSM1364086	p.Ile243Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71698989A>T	NCI-TCGA Cosmic
rs771124231	p.Val245Met	missense variant	-	NC_000012.12:g.71698995G>A	ExAC,gnomAD
rs762407205	p.Asn246AsnTerThrPheLeuUnk	stop gained	-	NC_000012.12:g.71699000_71699001insTAGACATTTTTGT	ExAC,gnomAD
NCI-TCGA novel	p.Asp247Tyr	missense variant	-	NC_000012.12:g.71699001G>T	NCI-TCGA
rs774602247	p.Leu248Ile	missense variant	-	NC_000012.12:g.71699004T>A	ExAC,gnomAD
rs1342604498	p.Asp249His	missense variant	-	NC_000012.12:g.71699007G>C	TOPMed
NCI-TCGA novel	p.Ala252Val	missense variant	-	NC_000012.12:g.71699017C>T	NCI-TCGA
rs1014539922	p.Ala252Thr	missense variant	-	NC_000012.12:g.71699016G>A	TOPMed
rs1459505068	p.Pro253Leu	missense variant	-	NC_000012.12:g.71699020C>T	gnomAD
rs768525960	p.Gln254Arg	missense variant	-	NC_000012.12:g.71699023A>G	ExAC,TOPMed,gnomAD
rs768525960	p.Gln254Pro	missense variant	-	NC_000012.12:g.71699023A>C	ExAC,TOPMed,gnomAD
rs201709262	p.Trp255Arg	missense variant	-	NC_000012.12:g.71699025T>A	ExAC,TOPMed,gnomAD
rs961957156	p.Ala259Val	missense variant	-	NC_000012.12:g.71699038C>T	TOPMed
rs981309598	p.Gly261Ser	missense variant	-	NC_000012.12:g.71699043G>A	TOPMed,gnomAD
rs928482331	p.Gly262Ser	missense variant	-	NC_000012.12:g.71699046G>A	TOPMed,gnomAD
rs761825307	p.Leu263Phe	missense variant	-	NC_000012.12:g.71699051A>T	ExAC,TOPMed
COSM3465044	p.Ala264Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71699053C>T	NCI-TCGA Cosmic
rs1415968924	p.Leu267Val	missense variant	-	NC_000012.12:g.71699061C>G	TOPMed,gnomAD
rs138665801	p.Gly268Val	missense variant	-	NC_000012.12:g.71699065G>T	ESP,ExAC,TOPMed,gnomAD
rs138665801	p.Gly268Glu	missense variant	-	NC_000012.12:g.71699065G>A	ESP,ExAC,TOPMed,gnomAD
rs762614686	p.Ser269Ala	missense variant	-	NC_000012.12:g.71699067T>G	ExAC,gnomAD
rs766110355	p.Ser269Leu	missense variant	-	NC_000012.12:g.71699068C>T	ExAC
rs1460512145	p.Ile270Thr	missense variant	-	NC_000012.12:g.71699071T>C	gnomAD
NCI-TCGA novel	p.Tyr274Cys	missense variant	-	NC_000012.12:g.71699083A>G	NCI-TCGA
rs145012054	p.Leu275Val	missense variant	-	NC_000012.12:g.71699085T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767935395	p.Leu275Phe	missense variant	-	NC_000012.12:g.71699087A>C	ExAC,TOPMed,gnomAD
rs373495464	p.Thr278Ala	missense variant	-	NC_000012.12:g.71699094A>G	ESP,ExAC,TOPMed,gnomAD
rs538591255	p.Met279Ile	missense variant	-	NC_000012.12:g.71699099G>T	1000Genomes
rs1218821427	p.Met279Val	missense variant	-	NC_000012.12:g.71699097A>G	gnomAD
rs1279666929	p.Met279Lys	missense variant	-	NC_000012.12:g.71699098T>A	gnomAD
rs1226052251	p.Gln280Arg	missense variant	-	NC_000012.12:g.71699101A>G	gnomAD
rs149102312	p.Gln280Ter	stop gained	-	NC_000012.12:g.71699100C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs377656372	p.Tyr281Ser	missense variant	-	NC_000012.12:g.71699104A>C	ESP,ExAC,TOPMed,gnomAD
rs377656372	p.Tyr281Cys	missense variant	-	NC_000012.12:g.71699104A>G	ESP,ExAC,TOPMed,gnomAD
rs568765314	p.Gly283Trp	missense variant	-	NC_000012.12:g.71699109G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs370300343	p.Asp285Gly	missense variant	-	NC_000012.12:g.71700838A>G	ESP,ExAC,gnomAD
rs370300343	p.Asp285Val	missense variant	-	NC_000012.12:g.71700838A>T	ESP,ExAC,gnomAD
rs74104122	p.Thr288Ser	missense variant	-	NC_000012.12:g.71700847C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770496129	p.Thr288Ala	missense variant	-	NC_000012.12:g.71700846A>G	ExAC,TOPMed,gnomAD
rs1241345258	p.Met290Val	missense variant	-	NC_000012.12:g.71700852A>G	gnomAD
rs759021811	p.Met290Ile	missense variant	-	NC_000012.12:g.71700854G>A	ExAC,gnomAD
rs771729947	p.Val291Met	missense variant	-	NC_000012.12:g.71700855G>A	ExAC,TOPMed,gnomAD
rs574587435	p.Asn293Ser	missense variant	-	NC_000012.12:g.71700862A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs145613828	p.Asn293Lys	missense variant	-	NC_000012.12:g.71700863C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1489543659	p.Ser294Asn	missense variant	-	NC_000012.12:g.71700865G>A	gnomAD
rs754288021	p.Asn297Lys	missense variant	-	NC_000012.12:g.71700875T>A	ExAC,TOPMed,gnomAD
rs764462361	p.Asn297Ser	missense variant	-	NC_000012.12:g.71700874A>G	ExAC,gnomAD
rs762313903	p.Arg300Ser	missense variant	-	NC_000012.12:g.71700884G>T	ExAC,gnomAD
COSM943279	p.Arg300Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71700883G>T	NCI-TCGA Cosmic
rs750503174	p.Ile302Met	missense variant	-	NC_000012.12:g.71700890A>G	ExAC,gnomAD
rs1399872547	p.Ala303Thr	missense variant	-	NC_000012.12:g.71700891G>A	TOPMed,gnomAD
rs994397588	p.Gly304Val	missense variant	-	NC_000012.12:g.71700895G>T	TOPMed,gnomAD
rs994397588	p.Gly304Glu	missense variant	-	NC_000012.12:g.71700895G>A	TOPMed,gnomAD
rs766596138	p.Ile307Val	missense variant	-	NC_000012.12:g.71700903A>G	ExAC,TOPMed,gnomAD
rs751763464	p.Ile307Thr	missense variant	-	NC_000012.12:g.71700904T>C	ExAC,gnomAD
rs138000835	p.Asp309Val	missense variant	-	NC_000012.12:g.71700910A>T	ESP,ExAC,TOPMed,gnomAD
rs138000835	p.Asp309Gly	missense variant	-	NC_000012.12:g.71700910A>G	ESP,ExAC,TOPMed,gnomAD
rs201635907	p.Asn310Asp	missense variant	-	NC_000012.12:g.71700912A>G	ExAC,TOPMed,gnomAD
rs745351843	p.Ala312Val	missense variant	-	NC_000012.12:g.71700919C>T	ExAC,TOPMed,gnomAD
rs778761272	p.Ala312Thr	missense variant	-	NC_000012.12:g.71700918G>A	ExAC,TOPMed,gnomAD
COSM3812959	p.Val313Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71700922T>C	NCI-TCGA Cosmic
rs771512857	p.Asn314Thr	missense variant	-	NC_000012.12:g.71700925A>C	ExAC,gnomAD
rs746676238	p.Ile321Thr	missense variant	-	NC_000012.12:g.71700946T>C	ExAC,gnomAD
rs1231088579	p.Ile321Met	missense variant	-	NC_000012.12:g.71700947T>G	TOPMed,gnomAD
rs768944655	p.Leu323Phe	missense variant	-	NC_000012.12:g.71700951C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu323Ile	missense variant	-	NC_000012.12:g.71700951C>A	NCI-TCGA
rs1182164615	p.Leu323Pro	missense variant	-	NC_000012.12:g.71700952T>C	gnomAD
rs768944655	p.Leu323Val	missense variant	-	NC_000012.12:g.71700951C>G	ExAC,gnomAD
COSM6138141	p.Ala329Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000012.12:g.71700969G>T	NCI-TCGA Cosmic
rs1473993509	p.Trp330Ter	stop gained	-	NC_000012.12:g.71700974G>A	gnomAD
NCI-TCGA novel	p.Trp330Cys	missense variant	-	NC_000012.12:g.71700974G>T	NCI-TCGA
rs1473993509	p.Trp330Cys	missense variant	-	NC_000012.12:g.71700974G>C	gnomAD
rs545807734	p.Gly331Ser	missense variant	-	NC_000012.12:g.71700975G>A	1000Genomes,ExAC,gnomAD
rs1353197055	p.Trp333Cys	missense variant	-	NC_000012.12:g.71700983G>T	gnomAD
rs765752583	p.Trp333Leu	missense variant	-	NC_000012.12:g.71700982G>T	ExAC,gnomAD
rs1441946532	p.Pro334Ser	missense variant	-	NC_000012.12:g.71700984C>T	gnomAD
rs773637464	p.Arg335Ser	missense variant	-	NC_000012.12:g.71700989G>T	ExAC,gnomAD
rs1357632118	p.Gly336Arg	missense variant	-	NC_000012.12:g.71700990G>A	TOPMed,gnomAD
COSM5051925	p.Ter337GluPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000012.12:g.71700988G>-	NCI-TCGA Cosmic
rs766394824	p.Ter337Arg	stop lost	-	NC_000012.12:g.71700993T>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0008924	Cleft upper lip	disease	GWASCAT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0016020	membrane	IBA
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of TMEM19 mRNA	28329830
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether analog results in decreased expression of TMEM19 mRNA	19095052
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of TMEM19 mRNA	19114083
C038890	2,3,4,7,8-pentachlorodibenzofuran	2,3,4,7,8-pentachlorodibenzofuran results in decreased expression of TMEM19 mRNA	21724226
C014211	2,3,7,8-tetrachlorodibenzofuran	2,3,7,8-tetrachlorodibenzofuran results in decreased expression of TMEM19 mRNA	21724226
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of TMEM19 mRNA	16788091
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of TMEM19 mRNA	18648102
C496492	abrine	abrine results in decreased expression of TMEM19 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of TMEM19 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of TMEM19 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of TMEM19 mRNA	19770486
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in decreased expression of TMEM19 mRNA	26680231
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of TMEM19 mRNA	19770486; 21715664; 22228805;
C006780	bisphenol A	bisphenol A results in increased expression of TMEM19 mRNA	25181051
C584509	C646 compound	C646 compound results in decreased expression of TMEM19 mRNA	26191083
D002220	Carbamazepine	Carbamazepine affects the expression of TMEM19 mRNA	25979313
D002251	Carbon Tetrachloride	[PANX1 protein co-treated with Carbon Tetrachloride] affects the expression of TMEM19 mRNA	29987408
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of TMEM19 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of TMEM19 mRNA]	31150632
D002330	Carmustine	TMEM19 mRNA affects the susceptibility to Carmustine	16365179
D002706	Chlordan	Chlordan results in decreased expression of TMEM19 mRNA	23153324
D002945	Cisplatin	Cisplatin results in increased expression of TMEM19 mRNA	25270620
D002994	Clofibrate	Clofibrate results in decreased expression of TMEM19 mRNA	23811191
D003375	Coumestrol	Coumestrol results in increased expression of TMEM19 mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in decreased expression of TMEM19 mRNA	20106945; 25562108;
D016572	Cyclosporine	Cyclosporine results in decreased expression of TMEM19 mRNA	19770486
C000944	dicrotophos	dicrotophos results in decreased expression of TMEM19 mRNA	28302478
D004147	Dioxins	Dioxins affects the expression of TMEM19 mRNA	20463971
D004726	Endosulfan	Endosulfan results in decreased expression of TMEM19 mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TMEM19 mRNA	22079256
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of TMEM19 mRNA	28329830
D005839	Gentamicins	Gentamicins results in increased expression of TMEM19 mRNA	22061828
D005897	Glafenine	Glafenine results in decreased expression of TMEM19 mRNA	24136188
C000593030	GSK-J4	GSK-J4 results in decreased expression of TMEM19 mRNA	29301935
C031927	hydroquinone	hydroquinone results in decreased expression of TMEM19 mRNA	31256213
D000077339	Leflunomide	Leflunomide results in decreased expression of TMEM19 mRNA	28988120
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of TMEM19 mRNA	28001369
D016685	Mitomycin	Mitomycin results in increased expression of TMEM19 mRNA	25270620
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of TMEM19 mRNA	31059758
D009532	Nickel	Nickel results in decreased expression of TMEM19 mRNA	24768652
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of TMEM19 mRNA	20188158
D010098	Oxycodone	Oxycodone results in decreased expression of TMEM19 mRNA	23439660
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether analog results in decreased expression of TMEM19 mRNA	19095052
D010634	Phenobarbital	Phenobarbital affects the expression of TMEM19 mRNA	23091169
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of TMEM19 mRNA	19710929
C006253	pirinixic acid	pirinixic acid results in decreased expression of TMEM19 mRNA	18445702; 23811191;
D011137	Polystyrenes	Polystyrenes analog results in decreased expression of TMEM19 mRNA	25102311
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of TMEM19 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of TMEM19 mRNA	22079256
D011374	Progesterone	Progesterone results in increased expression of TMEM19 mRNA	23012394
D011794	Quercetin	Quercetin results in decreased expression of TMEM19 mRNA	21632981
D012402	Rotenone	Rotenone results in decreased expression of TMEM19 mRNA	28374803
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in decreased expression of TMEM19 mRNA]	31150632
D012999	Soman	Soman results in decreased expression of TMEM19 mRNA	19281266
D000077210	Sunitinib	Sunitinib results in decreased expression of TMEM19 mRNA	31533062
D000077204	Temozolomide	TMEM19 mRNA affects the susceptibility to Temozolomide	16365179
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TMEM19 mRNA	22298810
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of TMEM19 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TMEM19 mRNA	19465110
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of TMEM19 mRNA	21215274; 21724226;
D013806	Theophylline	Theophylline results in decreased expression of TMEM19 mRNA	18951874
D014212	Tretinoin	Tretinoin results in increased expression of TMEM19 mRNA	21934132
D014635	Valproic Acid	Valproic Acid results in decreased expression of TMEM19 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in increased expression of TMEM19 mRNA	23179753
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of TMEM19 gene	25560391
C025643	vinclozolin	vinclozolin results in increased expression of TMEM19 mRNA	22570695

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0472	Membrane
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR002794	DUF92_TMEM19

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF01940	DUF92