CleftGeneDB-Search

Gene: STX18

Basic information

Tag	Content
Uniprot ID	Q9P2W9; Q596L3; Q5TZP5;
Entrez ID	53407
Genbank protein ID	AAS47513.1; AAP35814.1; BAA95213.1; AAH14613.1; AAV38937.1;
Genbank nucleotide ID	NM_001346282.1; NM_001346300.1; NM_001346281.1; NM_016930.3;
Ensembl protein ID	ENSP00000305810
Ensembl nucleotide ID	ENSG00000168818
Gene name	Syntaxin-18
Gene symbol	STX18
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	20087401
Functional description	Syntaxin that may be involved in targeting and fusion of Golgi-derived retrograde transport vesicles with the ER.
Sequence	MAVDITLLFR ASVKTVKTRN KALGVAVGGG VDGSRDELFR RSPRPKGDFS SRAREVISHI 60 GKLRDFLLEH RKDYINAYSH TMSEYGRMTD TERDQIDQDA QIFMRTCSEA IQQLRTEAHK 120 EIHSQQVKEH RTAVLDFIED YLKRVCKLYS EQRAIRVKRV VDKKRLSKLE PEPNTKTRES 180 TSSEKVSQSP SKDSEENPAT EERPEKILAE TQPELGTWGD GKGEDELSPE EIQMFEQENQ 240 RLIGEMNSLF DEVRQIEGRV VEISRLQEIF TEKVLQQEAE IDSIHQLVVG ATENIKEGNE 300 DIREAIKNNA GFRVWILFFL VMCSFSLLFL DWYDS 335

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	STX18	609342	J9P4H8	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	STX18		A0A452FDT2	Capra hircus	Prediction	More>>
1:1 ortholog	STX18	53407	Q9P2W9	Homo sapiens	Publication	More>>
1:1 ortholog	Stx18	71116	Q8VDS8	Mus musculus	Prediction	More>>
1:1 ortholog	STX18	741790	K6Z7Y3	Pan troglodytes	Prediction	More>>
1:1 ortholog	STX18		A0A286ZVN3	Sus scrofa	Prediction	More>>
1:1 ortholog	Stx18	360953	Q68FW4	Rattus norvegicus	Prediction	More>>
1:1 ortholog	stx18	554130	Q4VBI7	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs745926984	p.Ala2Val	missense variant	-	NC_000004.12:g.4541960G>A	ExAC,gnomAD
rs757111546	p.Val3Gly	missense variant	-	NC_000004.12:g.4541957A>C	ExAC,gnomAD
COSM4124865	p.Val3Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4541958C>T	NCI-TCGA Cosmic
rs1348088592	p.Val3Leu	missense variant	-	NC_000004.12:g.4541958C>A	gnomAD
rs751474159	p.Ile5Val	missense variant	-	NC_000004.12:g.4541952T>C	ExAC,TOPMed,gnomAD
rs777568469	p.Thr6Met	missense variant	-	NC_000004.12:g.4541948G>A	ExAC,TOPMed,gnomAD
rs777568469	p.Thr6Arg	missense variant	-	NC_000004.12:g.4541948G>C	ExAC,TOPMed,gnomAD
rs1177439416	p.Phe9Cys	missense variant	-	NC_000004.12:g.4541939A>C	gnomAD
rs764862944	p.Arg10Trp	missense variant	-	NC_000004.12:g.4541937G>A	ExAC,TOPMed,gnomAD
rs764862944	p.Arg10Gly	missense variant	-	NC_000004.12:g.4541937G>C	ExAC,TOPMed,gnomAD
rs1409890000	p.Arg10Pro	missense variant	-	NC_000004.12:g.4541936C>G	gnomAD
rs1409890000	p.Arg10Gln	missense variant	-	NC_000004.12:g.4541936C>T	gnomAD
rs1181302435	p.Ala11Thr	missense variant	-	NC_000004.12:g.4541934C>T	TOPMed,gnomAD
rs1419655236	p.Ala11Gly	missense variant	-	NC_000004.12:g.4541933G>C	gnomAD
rs759143592	p.Lys14Glu	missense variant	-	NC_000004.12:g.4541925T>C	ExAC,gnomAD
rs1183430588	p.Thr15Ala	missense variant	-	NC_000004.12:g.4541922T>C	TOPMed,gnomAD
rs768105340	p.Lys17Glu	missense variant	-	NC_000004.12:g.4541916T>C	ExAC,gnomAD
rs762253349	p.Thr18Lys	missense variant	-	NC_000004.12:g.4541912G>T	ExAC,gnomAD
rs1266990773	p.Arg19Trp	missense variant	-	NC_000004.12:g.4541910G>A	gnomAD
rs774870489	p.Asn20Tyr	missense variant	-	NC_000004.12:g.4541907T>A	ExAC,gnomAD
rs1394594114	p.Asn20Lys	missense variant	-	NC_000004.12:g.4541905G>C	gnomAD
rs372015735	p.Asn20Ser	missense variant	-	NC_000004.12:g.4541906T>C	ESP,TOPMed,gnomAD
rs1337590371	p.Ala22Thr	missense variant	-	NC_000004.12:g.4541901C>T	TOPMed,gnomAD
rs1454802789	p.Ala22Val	missense variant	-	NC_000004.12:g.4541900G>A	gnomAD
rs769150506	p.Gly24Arg	missense variant	-	NC_000004.12:g.4541895C>T	ExAC,TOPMed,gnomAD
rs763408063	p.Gly24Ala	missense variant	-	NC_000004.12:g.4541894C>G	ExAC,gnomAD
rs1365526089	p.Val25Leu	missense variant	-	NC_000004.12:g.4541892C>A	gnomAD
rs1422981401	p.Val27Gly	missense variant	-	NC_000004.12:g.4541885A>C	gnomAD
rs770122068	p.Gly29Ser	missense variant	-	NC_000004.12:g.4541880C>T	ExAC,TOPMed,gnomAD
rs1336425403	p.Gly30Glu	missense variant	-	NC_000004.12:g.4541876C>T	gnomAD
rs13134070	p.Asp32Asn	missense variant	-	NC_000004.12:g.4541871C>T	ExAC,gnomAD
rs13134070	p.Asp32Tyr	missense variant	-	NC_000004.12:g.4541871C>A	ExAC,gnomAD
rs781161674	p.Arg35Gln	missense variant	-	NC_000004.12:g.4541861C>T	ExAC,gnomAD
rs781161674	p.Arg35Leu	missense variant	-	NC_000004.12:g.4541861C>A	ExAC,gnomAD
rs773303357	p.Asp36Val	missense variant	-	NC_000004.12:g.4541858T>A	ExAC,gnomAD
rs969311735	p.Glu37Asp	missense variant	-	NC_000004.12:g.4541854C>G	TOPMed
NCI-TCGA novel	p.Glu37Ter	stop gained	-	NC_000004.12:g.4541856C>A	NCI-TCGA
rs746934465	p.Leu38Met	missense variant	-	NC_000004.12:g.4541853G>T	ExAC,gnomAD
rs1359112180	p.Leu38Gln	missense variant	-	NC_000004.12:g.4541852A>T	gnomAD
rs758254446	p.Arg40His	missense variant	-	NC_000004.12:g.4541846C>T	ExAC,gnomAD
rs1317715483	p.Arg41Pro	missense variant	-	NC_000004.12:g.4541843C>G	gnomAD
rs778585074	p.Pro43Ser	missense variant	-	NC_000004.12:g.4541838G>A	ExAC,TOPMed,gnomAD
rs753485407	p.Pro45Thr	missense variant	-	NC_000004.12:g.4541832G>T	ExAC,TOPMed,gnomAD
rs753485407	p.Pro45Ser	missense variant	-	NC_000004.12:g.4541832G>A	ExAC,TOPMed,gnomAD
rs765826529	p.Pro45Arg	missense variant	-	NC_000004.12:g.4541831G>C	ExAC,gnomAD
rs569573620	p.Gly47Ser	missense variant	-	NC_000004.12:g.4541826C>T	TOPMed
rs1325249525	p.Asp48Glu	missense variant	-	NC_000004.12:g.4541821G>C	gnomAD
rs1389108625	p.Phe49Leu	missense variant	-	NC_000004.12:g.4541818G>T	gnomAD
rs1392346962	p.Ser51Asn	missense variant	-	NC_000004.12:g.4541813C>T	TOPMed
rs763465020	p.Ser51Arg	missense variant	-	NC_000004.12:g.4541812G>C	ExAC,TOPMed,gnomAD
rs36109375	p.Ser51Gly	missense variant	-	NC_000004.12:g.4541814T>C	UniProt,dbSNP
VAR_052251	p.Ser51Gly	missense variant	-	NC_000004.12:g.4541814T>C	UniProt
rs36109375	p.Ser51Gly	missense variant	-	NC_000004.12:g.4541814T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775969920	p.Arg52Trp	missense variant	-	NC_000004.12:g.4541811G>A	ExAC,gnomAD
rs770244683	p.Arg52Pro	missense variant	-	NC_000004.12:g.4541810C>G	ExAC,gnomAD
rs1026173058	p.Ala53Asp	missense variant	-	NC_000004.12:g.4541807G>T	TOPMed,gnomAD
rs368216199	p.Ala53Ser	missense variant	-	NC_000004.12:g.4541808C>A	ESP,ExAC,TOPMed,gnomAD
rs200061902	p.Arg54His	missense variant	-	NC_000004.12:g.4541804C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776857072	p.Arg54Ser	missense variant	-	NC_000004.12:g.4541805G>T	ExAC,gnomAD
rs776857072	p.Arg54Gly	missense variant	-	NC_000004.12:g.4541805G>C	ExAC,gnomAD
rs200061902	p.Arg54Leu	missense variant	-	NC_000004.12:g.4541804C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199983128	p.Ile57Val	missense variant	-	NC_000004.12:g.4471706T>C	ExAC,TOPMed,gnomAD
rs780871893	p.Ser58Ala	missense variant	-	NC_000004.12:g.4471703A>C	ExAC,gnomAD
rs756769803	p.His59Asp	missense variant	-	NC_000004.12:g.4471700G>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys62Glu	missense variant	-	NC_000004.12:g.4471691T>C	NCI-TCGA
NCI-TCGA novel	p.Arg64Lys	missense variant	-	NC_000004.12:g.4471684C>T	NCI-TCGA
rs753261753	p.Asp65Gly	missense variant	-	NC_000004.12:g.4471681T>C	ExAC,gnomAD
rs551481935	p.Leu67Ile	missense variant	-	NC_000004.12:g.4471676G>T	1000Genomes,ExAC,gnomAD
rs1376708492	p.Leu67His	missense variant	-	NC_000004.12:g.4471675A>T	TOPMed
rs1397800753	p.Leu68Met	missense variant	-	NC_000004.12:g.4471673G>T	TOPMed
rs755353326	p.Glu69Gln	missense variant	-	NC_000004.12:g.4471670C>G	ExAC,gnomAD
rs755353326	p.Glu69Ter	stop gained	-	NC_000004.12:g.4471670C>A	ExAC,gnomAD
rs766548701	p.His70Tyr	missense variant	-	NC_000004.12:g.4471667G>A	ExAC,gnomAD
rs1399447971	p.Arg71Lys	missense variant	-	NC_000004.12:g.4471663C>T	gnomAD
rs1156403511	p.Arg71Gly	missense variant	-	NC_000004.12:g.4471664T>C	TOPMed,gnomAD
rs760917484	p.Lys72Glu	missense variant	-	NC_000004.12:g.4471661T>C	ExAC,TOPMed,gnomAD
rs1311567815	p.Asp73Val	missense variant	-	NC_000004.12:g.4471657T>A	TOPMed
rs773369139	p.Asp73Tyr	missense variant	-	NC_000004.12:g.4471658C>A	ExAC,TOPMed,gnomAD
rs1282627191	p.Ile75Val	missense variant	-	NC_000004.12:g.4471652T>C	TOPMed
rs528592425	p.Asn76Lys	missense variant	-	NC_000004.12:g.4471647A>C	1000Genomes,ExAC,gnomAD
rs192556293	p.Ala77Val	missense variant	-	NC_000004.12:g.4471645G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs774220039	p.Tyr78Cys	missense variant	-	NC_000004.12:g.4471642T>C	ExAC,gnomAD
rs149431016	p.Met82Leu	missense variant	-	NC_000004.12:g.4459480T>A	ESP,ExAC,TOPMed,gnomAD
rs149431016	p.Met82Val	missense variant	-	NC_000004.12:g.4459480T>C	ESP,ExAC,TOPMed,gnomAD
rs367680008	p.Ser83Cys	missense variant	-	NC_000004.12:g.4459476G>C	ESP,ExAC,TOPMed,gnomAD
rs780355183	p.Tyr85Cys	missense variant	-	NC_000004.12:g.4459470T>C	ExAC,gnomAD
rs756534204	p.Gly86Arg	missense variant	-	NC_000004.12:g.4459468C>T	ExAC,gnomAD
rs1224653440	p.Arg87Gly	missense variant	-	NC_000004.12:g.4459465T>C	gnomAD
rs1314521998	p.Met88Lys	missense variant	-	NC_000004.12:g.4459461A>T	gnomAD
rs750770122	p.Thr91Ile	missense variant	-	NC_000004.12:g.4459452G>A	ExAC,TOPMed,gnomAD
rs375534518	p.Arg93Gln	missense variant	-	NC_000004.12:g.4459446C>T	ESP,ExAC,TOPMed,gnomAD
rs781435188	p.Arg93Ter	stop gained	-	NC_000004.12:g.4459447G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp94Tyr	missense variant	-	NC_000004.12:g.4459444C>A	NCI-TCGA
rs1362848853	p.Gln95His	missense variant	-	NC_000004.12:g.4459439C>G	gnomAD
rs1264051811	p.Gln95Lys	missense variant	-	NC_000004.12:g.4459441G>T	TOPMed
rs1359252605	p.Asp97Glu	missense variant	-	NC_000004.12:g.4459433G>C	TOPMed
rs1272291039	p.Gln98Glu	missense variant	-	NC_000004.12:g.4459432G>C	TOPMed,gnomAD
rs370974050	p.Asp99Gly	missense variant	-	NC_000004.12:g.4459428T>C	ESP,ExAC,TOPMed,gnomAD
rs752747700	p.Gln101Arg	missense variant	-	NC_000004.12:g.4459422T>C	ExAC,TOPMed,gnomAD
rs759450544	p.Arg105Ser	missense variant	-	NC_000004.12:g.4459409C>A	ExAC
rs765253900	p.Arg105Lys	missense variant	-	NC_000004.12:g.4459410C>T	ExAC,gnomAD
rs776535333	p.Ser108Ter	stop gained	-	NC_000004.12:g.4459401G>C	ExAC,gnomAD
rs1361936298	p.Ser108Thr	missense variant	-	NC_000004.12:g.4459402A>T	gnomAD
rs1419414634	p.Ile111Val	missense variant	-	NC_000004.12:g.4459393T>C	gnomAD
rs1175007999	p.Gln112Pro	missense variant	-	NC_000004.12:g.4459389T>G	TOPMed
rs1419617078	p.Arg115Gln	missense variant	-	NC_000004.12:g.4459380C>T	TOPMed
rs920916744	p.Arg115Ter	stop gained	-	NC_000004.12:g.4459381G>A	TOPMed,gnomAD
rs1437086225	p.Thr116Ala	missense variant	-	NC_000004.12:g.4459378T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr116Ser	missense variant	-	NC_000004.12:g.4459378T>A	NCI-TCGA
rs200389671	p.His119Pro	missense variant	-	NC_000004.12:g.4457497T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200389671	p.His119Arg	missense variant	-	NC_000004.12:g.4457497T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200389671	p.His119Leu	missense variant	-	NC_000004.12:g.4457497T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His119Gln	missense variant	-	NC_000004.12:g.4457496G>C	NCI-TCGA
rs773885817	p.Lys120Asn	missense variant	-	NC_000004.12:g.4457493C>G	ExAC,gnomAD
rs761432951	p.Lys120Glu	missense variant	-	NC_000004.12:g.4457495T>C	ExAC,gnomAD
rs773885817	p.Lys120Asn	missense variant	-	NC_000004.12:g.4457493C>A	ExAC,gnomAD
rs768109962	p.Glu121Ter	stop gained	-	NC_000004.12:g.4457492C>A	ExAC,TOPMed,gnomAD
rs768109962	p.Glu121Gln	missense variant	-	NC_000004.12:g.4457492C>G	ExAC,TOPMed,gnomAD
rs777055880	p.Ile122Val	missense variant	-	NC_000004.12:g.4457489T>C	ExAC,gnomAD
rs1301235338	p.His123Asn	missense variant	-	NC_000004.12:g.4457486G>T	gnomAD
rs1301235338	p.His123Tyr	missense variant	-	NC_000004.12:g.4457486G>A	gnomAD
rs941705297	p.His123Arg	missense variant	-	NC_000004.12:g.4457485T>C	TOPMed
rs747322825	p.Ser124Cys	missense variant	-	NC_000004.12:g.4457482G>C	ExAC,TOPMed,gnomAD
rs747322825	p.Ser124Tyr	missense variant	-	NC_000004.12:g.4457482G>T	ExAC,TOPMed,gnomAD
rs758515694	p.Glu129Lys	missense variant	-	NC_000004.12:g.4457468C>T	ExAC,gnomAD
rs758515694	p.Glu129Gln	missense variant	-	NC_000004.12:g.4457468C>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr132Ile	missense variant	-	NC_000004.12:g.4457458G>A	NCI-TCGA
rs755050963	p.Ala133Thr	missense variant	-	NC_000004.12:g.4457456C>T	ExAC,gnomAD
rs370164301	p.Val134Ile	missense variant	-	NC_000004.12:g.4457453C>T	ESP,ExAC,TOPMed,gnomAD
rs370164301	p.Val134Leu	missense variant	-	NC_000004.12:g.4457453C>G	ESP,ExAC,TOPMed,gnomAD
rs139040070	p.Asp136Asn	missense variant	-	NC_000004.12:g.4457447C>T	ESP
NCI-TCGA novel	p.Phe137Val	missense variant	-	NC_000004.12:g.4457444A>C	NCI-TCGA
rs375609558	p.Phe137Ile	missense variant	-	NC_000004.12:g.4457444A>T	ESP,gnomAD
rs200846315	p.Ile138Val	missense variant	-	NC_000004.12:g.4457441T>C	1000Genomes
rs755992642	p.Ile138Thr	missense variant	-	NC_000004.12:g.4457440A>G	ExAC,gnomAD
rs1293004739	p.Asp140Ala	missense variant	-	NC_000004.12:g.4457434T>G	gnomAD
rs1293004739	p.Asp140Gly	missense variant	-	NC_000004.12:g.4457434T>C	gnomAD
COSM3775858	p.Asp140Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4457434T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr141Cys	missense variant	-	NC_000004.12:g.4457431T>C	NCI-TCGA
rs750159538	p.Tyr141Asn	missense variant	-	NC_000004.12:g.4457432A>T	ExAC,gnomAD
COSM6100455	p.Cys146Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4457251C>G	NCI-TCGA Cosmic
rs756980900	p.Cys146Ter	stop gained	-	NC_000004.12:g.4457250A>T	ExAC,gnomAD
rs763726059	p.Leu148Phe	missense variant	-	NC_000004.12:g.4457246G>A	ExAC,gnomAD
rs763726059	p.Leu148Val	missense variant	-	NC_000004.12:g.4457246G>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr149LeuPheSerTerUnk	frameshift	-	NC_000004.12:g.4457243_4457244AA>-	NCI-TCGA
rs1439677613	p.Ser150Pro	missense variant	-	NC_000004.12:g.4457240A>G	gnomAD
rs1396534917	p.Gln152Glu	missense variant	-	NC_000004.12:g.4457234G>C	TOPMed
NCI-TCGA novel	p.Gln152His	missense variant	-	NC_000004.12:g.4457232C>G	NCI-TCGA
COSM1429835	p.Ala154Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4457228C>T	NCI-TCGA Cosmic
rs1329067636	p.Ile155Met	missense variant	-	NC_000004.12:g.4457223G>C	gnomAD
rs1448582109	p.Arg156Gln	missense variant	-	NC_000004.12:g.4457221C>T	TOPMed,gnomAD
rs1166748901	p.Arg156Gly	missense variant	-	NC_000004.12:g.4457222G>C	gnomAD
rs752175452	p.Val157Ile	missense variant	-	NC_000004.12:g.4457219C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val157Gly	missense variant	-	NC_000004.12:g.4457218A>C	NCI-TCGA
rs752175452	p.Val157Leu	missense variant	-	NC_000004.12:g.4457219C>G	ExAC,gnomAD
rs764762469	p.Lys158Asn	missense variant	-	NC_000004.12:g.4457214T>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg165Gly	missense variant	-	NC_000004.12:g.4457195T>C	NCI-TCGA
rs773707590	p.Leu166Ter	stop gained	-	NC_000004.12:g.4457191A>C	ExAC,gnomAD
rs1432767852	p.Leu169Pro	missense variant	-	NC_000004.12:g.4438501A>G	TOPMed
rs1199886942	p.Glu170Lys	missense variant	-	NC_000004.12:g.4438499C>T	TOPMed
rs553471854	p.Pro171Arg	missense variant	-	NC_000004.12:g.4438495G>C	1000Genomes,ExAC,gnomAD
rs373236269	p.Thr175Ala	missense variant	-	NC_000004.12:g.4438484T>C	ESP,ExAC,gnomAD
rs981857214	p.Thr177Ile	missense variant	-	NC_000004.12:g.4438477G>A	gnomAD
rs1334367742	p.Thr177Ser	missense variant	-	NC_000004.12:g.4438478T>A	TOPMed,gnomAD
rs981857214	p.Thr177Arg	missense variant	-	NC_000004.12:g.4438477G>C	gnomAD
rs1446413480	p.Arg178Gly	missense variant	-	NC_000004.12:g.4438475T>C	gnomAD
rs1247439389	p.Glu179Ala	missense variant	-	NC_000004.12:g.4438471T>G	gnomAD
NCI-TCGA novel	p.Ser180Cys	missense variant	-	NC_000004.12:g.4438468G>C	NCI-TCGA
rs1455807265	p.Ser180Tyr	missense variant	-	NC_000004.12:g.4438468G>T	TOPMed
NCI-TCGA novel	p.Thr181Ile	missense variant	-	NC_000004.12:g.4438465G>A	NCI-TCGA
rs769831978	p.Ser183Cys	missense variant	-	NC_000004.12:g.4438459G>C	ExAC,TOPMed,gnomAD
rs61740788	p.Glu184Ala	missense variant	-	NC_000004.12:g.4438456T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61740788	p.Glu184Val	missense variant	-	NC_000004.12:g.4438456T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746911463	p.Gln188Arg	missense variant	-	NC_000004.12:g.4438444T>C	ExAC,gnomAD
rs1267960330	p.Ser189Asn	missense variant	-	NC_000004.12:g.4438441C>T	gnomAD
rs1299357238	p.Lys192Thr	missense variant	-	NC_000004.12:g.4438432T>G	TOPMed,gnomAD
rs1299357238	p.Lys192Arg	missense variant	-	NC_000004.12:g.4438432T>C	TOPMed,gnomAD
rs1374921211	p.Lys192Glu	missense variant	-	NC_000004.12:g.4438433T>C	gnomAD
rs747757363	p.Ser194Pro	missense variant	-	NC_000004.12:g.4438427A>G	ExAC,gnomAD
rs778619017	p.Glu196Lys	missense variant	-	NC_000004.12:g.4438421C>T	ExAC,gnomAD
rs376948946	p.Glu196Gly	missense variant	-	NC_000004.12:g.4438420T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753364981	p.Asn197Thr	missense variant	-	NC_000004.12:g.4438417T>G	ExAC,gnomAD
rs1241123898	p.Pro198Ser	missense variant	-	NC_000004.12:g.4438415G>A	TOPMed
rs757868590	p.Glu201Lys	missense variant	-	NC_000004.12:g.4438406C>T	ExAC,TOPMed,gnomAD
rs199791946	p.Arg203Cys	missense variant	-	NC_000004.12:g.4438400G>A	1000Genomes,ExAC,gnomAD
rs141565171	p.Arg203His	missense variant	-	NC_000004.12:g.4438399C>T	ESP,ExAC,TOPMed,gnomAD
rs1489786258	p.Glu205Ter	stop gained	-	NC_000004.12:g.4438394C>A	gnomAD
rs764685617	p.Lys206Ile	missense variant	-	NC_000004.12:g.4434855T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile207AsnPheSerTerUnk	frameshift	-	NC_000004.12:g.4434852_4434853insT	NCI-TCGA
rs138608980	p.Ala209Ser	missense variant	-	NC_000004.12:g.4434847C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138608980	p.Ala209Pro	missense variant	-	NC_000004.12:g.4434847C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3993689	p.Glu210Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4434844C>T	NCI-TCGA Cosmic
rs753078774	p.Thr211Ala	missense variant	-	NC_000004.12:g.4434841T>C	ExAC,TOPMed,gnomAD
rs1212054806	p.Gln212Leu	missense variant	-	NC_000004.12:g.4434837T>A	gnomAD
rs765480846	p.Thr217Met	missense variant	-	NC_000004.12:g.4434822G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr217Arg	missense variant	-	NC_000004.12:g.4434822G>C	NCI-TCGA
rs200454992	p.Trp218Cys	missense variant	-	NC_000004.12:g.4434818C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766447591	p.Gly219Arg	missense variant	-	NC_000004.12:g.4434817C>T	ExAC,gnomAD
rs1333528074	p.Lys222Arg	missense variant	-	NC_000004.12:g.4434807T>C	gnomAD
rs772024245	p.Gly223Val	missense variant	-	NC_000004.12:g.4434804C>A	ExAC,gnomAD
rs141662322	p.Glu224Lys	missense variant	-	NC_000004.12:g.4434802C>T	ESP,TOPMed
rs774231425	p.Glu224Ala	missense variant	-	NC_000004.12:g.4434801T>G	ExAC,gnomAD
rs922649368	p.Glu224Asp	missense variant	-	NC_000004.12:g.4434800T>A	TOPMed,gnomAD
rs768285505	p.Glu226Lys	missense variant	-	NC_000004.12:g.4434796C>T	ExAC,gnomAD
rs148035025	p.Leu227Phe	missense variant	-	NC_000004.12:g.4434791T>A	ESP,ExAC,TOPMed,gnomAD
rs33952588	p.Ser228Thr	missense variant	-	NC_000004.12:g.4434790A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs33952588	p.Ser228Thr	missense variant	-	NC_000004.12:g.4434790A>T	UniProt,dbSNP
VAR_052252	p.Ser228Thr	missense variant	-	NC_000004.12:g.4434790A>T	UniProt
rs528505752	p.Pro229Ala	missense variant	-	NC_000004.12:g.4434787G>C	ExAC,gnomAD
rs745350307	p.Met234Thr	missense variant	-	NC_000004.12:g.4434771A>G	ExAC,gnomAD
rs1444031816	p.Glu236Gly	missense variant	-	NC_000004.12:g.4425218T>C	TOPMed
NCI-TCGA novel	p.Glu236Lys	missense variant	-	NC_000004.12:g.4425219C>T	NCI-TCGA
rs769541021	p.Gln237Leu	missense variant	-	NC_000004.12:g.4425215T>A	ExAC,TOPMed,gnomAD
rs745481180	p.Gln240Pro	missense variant	-	NC_000004.12:g.4425206T>G	ExAC,TOPMed,gnomAD
rs780875914	p.Arg241Gln	missense variant	-	NC_000004.12:g.4425203C>T	ExAC,gnomAD
rs1455288462	p.Arg241Ter	stop gained	-	NC_000004.12:g.4425204G>A	TOPMed,gnomAD
rs374045650	p.Leu242Arg	missense variant	-	NC_000004.12:g.4425200A>C	ESP,ExAC,TOPMed,gnomAD
rs141324067	p.Ile243Met	missense variant	-	NC_000004.12:g.4425196A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs900513772	p.Gly244Cys	missense variant	-	NC_000004.12:g.4425195C>A	gnomAD
rs937271471	p.Gly244Val	missense variant	-	NC_000004.12:g.4425194C>A	TOPMed
COSM1055613	p.Glu245Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.4425192C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser248Gly	missense variant	-	NC_000004.12:g.4425183T>C	NCI-TCGA
rs1368538523	p.Leu249Ser	missense variant	-	NC_000004.12:g.4425179A>G	gnomAD
rs920539386	p.Phe250Ile	missense variant	-	NC_000004.12:g.4425177A>T	TOPMed
NCI-TCGA novel	p.Asp251His	missense variant	-	NC_000004.12:g.4425174C>G	NCI-TCGA
rs1188947148	p.Val253Met	missense variant	-	NC_000004.12:g.4425168C>T	gnomAD
rs147859730	p.Glu257Lys	missense variant	-	NC_000004.12:g.4423580C>T	ESP,ExAC,TOPMed,gnomAD
rs1451405247	p.Val261Ile	missense variant	-	NC_000004.12:g.4423568C>T	gnomAD
rs112848855	p.Glu262Asp	missense variant	-	NC_000004.12:g.4423563C>A	gnomAD
rs112848855	p.Glu262Asp	missense variant	-	NC_000004.12:g.4423563C>G	gnomAD
rs1257197734	p.Ser264Ala	missense variant	-	NC_000004.12:g.4423559A>C	TOPMed,gnomAD
rs769116486	p.Ser264Cys	missense variant	-	NC_000004.12:g.4423558G>C	ExAC,TOPMed,gnomAD
rs530325544	p.Arg265Lys	missense variant	-	NC_000004.12:g.4423555C>T	1000Genomes,ExAC,gnomAD
rs780419500	p.Leu266Phe	missense variant	-	NC_000004.12:g.4423553G>A	ExAC,gnomAD
rs756411297	p.Gln267Ter	stop gained	-	NC_000004.12:g.4423550G>A	ExAC,gnomAD
rs1319826987	p.Ile269Arg	missense variant	-	NC_000004.12:g.4423543A>C	gnomAD
rs746093405	p.Ile269Leu	missense variant	-	NC_000004.12:g.4423544T>A	ExAC,TOPMed,gnomAD
rs1281316602	p.Phe270Leu	missense variant	-	NC_000004.12:g.4423541A>G	gnomAD
rs781259237	p.Thr271Met	missense variant	-	NC_000004.12:g.4423537G>A	ExAC,TOPMed,gnomAD
rs1325080855	p.Glu272Lys	missense variant	-	NC_000004.12:g.4423535C>T	gnomAD
rs1377349612	p.Val274Ile	missense variant	-	NC_000004.12:g.4423529C>T	TOPMed
rs764195264	p.Leu275Phe	missense variant	-	NC_000004.12:g.4423524C>G	ExAC,gnomAD
rs369099999	p.Gln276Lys	missense variant	-	NC_000004.12:g.4423523G>T	ESP,ExAC,TOPMed,gnomAD
rs752628022	p.Gln277Arg	missense variant	-	NC_000004.12:g.4423519T>C	ExAC,TOPMed
rs752628022	p.Gln277Leu	missense variant	-	NC_000004.12:g.4423519T>A	ExAC,TOPMed
rs1412240004	p.Glu278Gly	missense variant	-	NC_000004.12:g.4420943T>C	TOPMed
rs770257333	p.Ser283Asn	missense variant	-	NC_000004.12:g.4420928C>T	ExAC,TOPMed,gnomAD
rs1339585569	p.His285Arg	missense variant	-	NC_000004.12:g.4420922T>C	TOPMed
rs145159636	p.Gln286His	missense variant	-	NC_000004.12:g.4420918C>G	ESP,ExAC,TOPMed,gnomAD
rs771272494	p.Gln286Arg	missense variant	-	NC_000004.12:g.4420919T>C	ExAC,gnomAD
rs1343201544	p.Val288Ile	missense variant	-	NC_000004.12:g.4420914C>T	TOPMed
rs1448131135	p.Gly290Arg	missense variant	-	NC_000004.12:g.4420908C>T	gnomAD
rs748214329	p.Glu293Gly	missense variant	-	NC_000004.12:g.4420898T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu293Lys	missense variant	-	NC_000004.12:g.4420899C>T	NCI-TCGA
rs1418214374	p.Ile295Thr	missense variant	-	NC_000004.12:g.4420892A>G	gnomAD
NCI-TCGA novel	p.Lys296Asn	missense variant	-	NC_000004.12:g.4420888C>A	NCI-TCGA
rs1187896229	p.Glu297Ala	missense variant	-	NC_000004.12:g.4420886T>G	gnomAD
rs1360336694	p.Gly298Ser	missense variant	-	NC_000004.12:g.4420884C>T	gnomAD
rs754900100	p.Asn299Tyr	missense variant	-	NC_000004.12:g.4420881T>A	ExAC,TOPMed,gnomAD
rs754900100	p.Asn299His	missense variant	-	NC_000004.12:g.4420881T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu300Lys	missense variant	-	NC_000004.12:g.4420878C>T	NCI-TCGA
COSM1055612	p.Glu300Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.4420877T>A	NCI-TCGA Cosmic
rs779725592	p.Ile302Leu	missense variant	-	NC_000004.12:g.4420872T>G	ExAC,gnomAD
rs1036510662	p.Ile302Thr	missense variant	-	NC_000004.12:g.4420871A>G	TOPMed
rs1239080829	p.Glu304Lys	missense variant	-	NC_000004.12:g.4420866C>T	gnomAD
NCI-TCGA novel	p.Asn308Tyr	missense variant	-	NC_000004.12:g.4420120T>A	NCI-TCGA
rs375381942	p.Ala310Thr	missense variant	-	NC_000004.12:g.4420114C>T	ESP,ExAC,TOPMed,gnomAD
rs570534465	p.Arg313His	missense variant	-	NC_000004.12:g.4420104C>T	1000Genomes,ExAC,gnomAD
rs754364875	p.Arg313Cys	missense variant	-	NC_000004.12:g.4420105G>A	ExAC,gnomAD
rs760981833	p.Val314Met	missense variant	-	NC_000004.12:g.4420102C>T	ExAC,TOPMed,gnomAD
rs760981833	p.Val314Leu	missense variant	-	NC_000004.12:g.4420102C>G	ExAC,TOPMed,gnomAD
rs1424268354	p.Leu317Phe	missense variant	-	NC_000004.12:g.4420093G>A	gnomAD
rs773741342	p.Leu317Arg	missense variant	-	NC_000004.12:g.4420092A>C	ExAC,gnomAD
rs997730123	p.Phe318Ser	missense variant	-	NC_000004.12:g.4420089A>G	TOPMed
NCI-TCGA novel	p.Leu320Ile	missense variant	-	NC_000004.12:g.4420084G>T	NCI-TCGA
rs762138993	p.Val321Met	missense variant	-	NC_000004.12:g.4420081C>T	ExAC,gnomAD
rs547494020	p.Phe325Leu	missense variant	-	NC_000004.12:g.4420067G>C	1000Genomes,ExAC,gnomAD
rs1301080357	p.Leu328Pro	missense variant	-	NC_000004.12:g.4420059A>G	gnomAD
rs372039780	p.Asp331Asn	missense variant	-	NC_000004.12:g.4420051C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp332Arg	missense variant	-	NC_000004.12:g.4420048A>G	NCI-TCGA
rs769802487	p.Asp334Ala	missense variant	-	NC_000004.12:g.4420041T>G	ExAC,TOPMed,gnomAD
rs1447993378	p.Asp334Asn	missense variant	-	NC_000004.12:g.4420042C>T	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003516	Aortopulmonary Septal Defect	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0018817	Atrial Septal Defects	group	BEFREE
C0162557	Liver Failure, Acute	disease	BEFREE
C0344724	Ostium secundum atrial septal defect	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C1510586	Autism Spectrum Disorders	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005484	SNAP receptor activity	IEA
GO:0005515	protein binding	IPI
GO:0019904	protein domain specific binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006886	intracellular protein transport	IEA
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS
GO:0061025	membrane fusion	IEA
GO:0090158	endoplasmic reticulum membrane organization	IMP
GO:1902117	positive regulation of organelle assembly	IMP
GO:1902953	positive regulation of ER to Golgi vesicle-mediated transport	IMP
GO:1903358	regulation of Golgi organization	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000139	Golgi membrane	IEA
GO:0005783	endoplasmic reticulum	IDA
GO:0005783	endoplasmic reticulum	IBA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0016021	integral component of membrane	IEA
GO:0031201	SNARE complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-199991	Membrane Trafficking	TAS
R-HSA-5653656	Vesicle-mediated transport	TAS
R-HSA-6811434	COPI-dependent Golgi-to-ER retrograde traffic	TAS
R-HSA-6811442	Intra-Golgi and retrograde Golgi-to-ER traffic	TAS
R-HSA-8856688	Golgi-to-ER retrograde transport	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of STX18 mRNA	19114083
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of STX18 mRNA	21346803
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of STX18 mRNA	19150397
C496492	abrine	abrine results in increased expression of STX18 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of STX18 mRNA	17562736
D019256	Cadmium Chloride	Cadmium Chloride results in decreased expression of STX18 mRNA	21297351
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of STX18 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of STX18 mRNA]	31150632
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of STX18 mRNA	23650126
C029892	cupric chloride	cupric chloride results in increased expression of STX18 mRNA	24650576
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of STX18 mRNA	25242112
D018120	Finasteride	Finasteride results in increased expression of STX18 protein	27750143
C082360	fipronil	fipronil results in increased expression of STX18 mRNA	23962444
D005485	Flutamide	Flutamide results in increased expression of STX18 mRNA	24136188
D006861	Hydrogen Peroxide	Hydrogen Peroxide affects the expression of STX18 mRNA	20044591
D008694	Methamphetamine	Methamphetamine results in increased expression of STX18 mRNA	29802913
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of STX18 mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of STX18 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of STX18 mRNA	25554681; 25620056;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of STX18 mRNA	26251327
D010936	Plant Extracts	Plant Extracts results in increased expression of STX18 mRNA	23557933
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of STX18 mRNA	28903501
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of STX18 mRNA]	31150632
C009277	sodium arsenate	sodium arsenate results in increased expression of STX18 mRNA	30953684
C017947	sodium arsenite	sodium arsenite results in increased expression of STX18 mRNA	29361514
D013629	Tamoxifen	Tamoxifen results in decreased expression of STX18 mRNA	15590111
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of STX18 mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of STX18 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of STX18 mRNA	21215274
D014635	Valproic Acid	Valproic Acid results in increased expression of STX18 mRNA	23179753
D014635	Valproic Acid	Valproic Acid affects the expression of STX18 mRNA	17292431

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0175	Coiled coil
KW-0256	Endoplasmic reticulum
KW-0931	ER-Golgi transport
KW-0333	Golgi apparatus
KW-0472	Membrane
KW-0621	Polymorphism
KW-0653	Protein transport
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0813	Transport

Interpro

InterPro ID	InterPro Term
IPR019529	Syntaxin-18_N
IPR006012	Syntaxin/epimorphin_CS

PROSITE

PROSITE ID	PROSITE Term
PS00914	SYNTAXIN

Pfam

Pfam ID	Pfam Term
PF10496	Syntaxin-18_N

Gene: STX18

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

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