Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8676
Gene name	Syntaxin 11
Gene symbol	STX11
Synonyms (NCBI Gene)	FHL4HLH4HPLH4
Chromosome	6
Chromosome location	6q24.2
Summary	This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutation

Show/Hide all (8)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104893996	C>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs397725572	->A	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant, genic downstream transcript variant
rs431905512	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs483352901	AGTGGCGC>TGG	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs794729649	C>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1554294339	A>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554294422	->G	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1584062332	TGGC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

329

Show/Hide all (329)

miRTarBase ID	miRNA	Experiments	Reference
MIRT002522	hsa-miR-373-3p	Microarray	15685193
MIRT483556	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT483555	hsa-miR-5188	PAR-CLIP	20371350
MIRT483554	hsa-miR-3185	PAR-CLIP	20371350
MIRT483553	hsa-miR-15b-3p	PAR-CLIP	20371350
MIRT483556	hsa-miR-136-3p	PAR-CLIP	23592263
MIRT483555	hsa-miR-5188	PAR-CLIP	23592263
MIRT483554	hsa-miR-3185	PAR-CLIP	23592263
MIRT483553	hsa-miR-15b-3p	PAR-CLIP	23592263
MIRT483556	hsa-miR-136-3p	PAR-CLIP	23592263
MIRT483555	hsa-miR-5188	PAR-CLIP	23592263
MIRT483554	hsa-miR-3185	PAR-CLIP	23592263
MIRT483553	hsa-miR-15b-3p	PAR-CLIP	23592263
MIRT483556	hsa-miR-136-3p	PAR-CLIP	20371350
MIRT483555	hsa-miR-5188	PAR-CLIP	20371350
MIRT483554	hsa-miR-3185	PAR-CLIP	20371350
MIRT483553	hsa-miR-15b-3p	PAR-CLIP	20371350
MIRT483556	hsa-miR-136-3p	PAR-CLIP	23592263
MIRT483555	hsa-miR-5188	PAR-CLIP	23592263
MIRT483554	hsa-miR-3185	PAR-CLIP	23592263
MIRT483553	hsa-miR-15b-3p	PAR-CLIP	23592263
MIRT483556	hsa-miR-136-3p	PAR-CLIP	23592263
MIRT483555	hsa-miR-5188	PAR-CLIP	23592263
MIRT483554	hsa-miR-3185	PAR-CLIP	23592263
MIRT483553	hsa-miR-15b-3p	PAR-CLIP	23592263
MIRT1399953	hsa-miR-1178	CLIP-seq
MIRT1399954	hsa-miR-1262	CLIP-seq
MIRT1399955	hsa-miR-128	CLIP-seq
MIRT1399956	hsa-miR-1285	CLIP-seq
MIRT1399957	hsa-miR-129-5p	CLIP-seq
MIRT1399958	hsa-miR-1972	CLIP-seq
MIRT1399959	hsa-miR-2113	CLIP-seq
MIRT1399960	hsa-miR-2115	CLIP-seq
MIRT1399961	hsa-miR-216a	CLIP-seq
MIRT1399962	hsa-miR-216b	CLIP-seq
MIRT1399963	hsa-miR-3064-5p	CLIP-seq
MIRT1399964	hsa-miR-3065-3p	CLIP-seq
MIRT1399965	hsa-miR-3074-5p	CLIP-seq
MIRT1399966	hsa-miR-3122	CLIP-seq
MIRT1399967	hsa-miR-3125	CLIP-seq
MIRT1399968	hsa-miR-3148	CLIP-seq
MIRT1399969	hsa-miR-3157-5p	CLIP-seq
MIRT1399970	hsa-miR-3187-5p	CLIP-seq
MIRT1399971	hsa-miR-3190	CLIP-seq
MIRT1399972	hsa-miR-3192	CLIP-seq
MIRT1399973	hsa-miR-3197	CLIP-seq
MIRT1399974	hsa-miR-3606	CLIP-seq
MIRT1399975	hsa-miR-3613-3p	CLIP-seq
MIRT1399976	hsa-miR-3614-5p	CLIP-seq
MIRT1399977	hsa-miR-3622b-5p	CLIP-seq
MIRT1399978	hsa-miR-3650	CLIP-seq
MIRT1399979	hsa-miR-3652	CLIP-seq
MIRT1399980	hsa-miR-3672	CLIP-seq
MIRT1399981	hsa-miR-3676	CLIP-seq
MIRT1399982	hsa-miR-3688-5p	CLIP-seq
MIRT1399983	hsa-miR-3689a-3p	CLIP-seq
MIRT1399984	hsa-miR-3689c	CLIP-seq
MIRT1399985	hsa-miR-370	CLIP-seq
MIRT1399986	hsa-miR-371-5p	CLIP-seq
MIRT1399987	hsa-miR-371b-5p	CLIP-seq
MIRT1399988	hsa-miR-3913-5p	CLIP-seq
MIRT1399989	hsa-miR-3916	CLIP-seq
MIRT1399990	hsa-miR-3929	CLIP-seq
MIRT1399991	hsa-miR-4252	CLIP-seq
MIRT1399992	hsa-miR-4261	CLIP-seq
MIRT1399993	hsa-miR-4282	CLIP-seq
MIRT1399994	hsa-miR-4289	CLIP-seq
MIRT1399995	hsa-miR-4325	CLIP-seq
MIRT1399996	hsa-miR-4419b	CLIP-seq
MIRT1399997	hsa-miR-4430	CLIP-seq
MIRT1399998	hsa-miR-4433	CLIP-seq
MIRT1399999	hsa-miR-4459	CLIP-seq
MIRT1400000	hsa-miR-4474-3p	CLIP-seq
MIRT1400001	hsa-miR-4476	CLIP-seq
MIRT1400002	hsa-miR-4478	CLIP-seq
MIRT1400003	hsa-miR-4493	CLIP-seq
MIRT1400004	hsa-miR-4496	CLIP-seq
MIRT1400005	hsa-miR-4504	CLIP-seq
MIRT1400006	hsa-miR-4505	CLIP-seq
MIRT1400007	hsa-miR-4640-5p	CLIP-seq
MIRT1400008	hsa-miR-4645-5p	CLIP-seq
MIRT1400009	hsa-miR-4649-3p	CLIP-seq
MIRT1400010	hsa-miR-4650-5p	CLIP-seq
MIRT1400011	hsa-miR-4662a-5p	CLIP-seq
MIRT1400012	hsa-miR-4668-5p	CLIP-seq
MIRT1400013	hsa-miR-4673	CLIP-seq
MIRT1400014	hsa-miR-4676-5p	CLIP-seq
MIRT1400015	hsa-miR-4683	CLIP-seq
MIRT1400016	hsa-miR-4701-3p	CLIP-seq
MIRT1400017	hsa-miR-4717-3p	CLIP-seq
MIRT1400018	hsa-miR-4726-5p	CLIP-seq
MIRT1400019	hsa-miR-4728-5p	CLIP-seq
MIRT1400020	hsa-miR-4738-3p	CLIP-seq
MIRT1400021	hsa-miR-4752	CLIP-seq
MIRT1400022	hsa-miR-4753-5p	CLIP-seq
MIRT1400023	hsa-miR-4755-3p	CLIP-seq
MIRT1400024	hsa-miR-4761-5p	CLIP-seq
MIRT1400025	hsa-miR-4767	CLIP-seq
MIRT1400026	hsa-miR-4768-3p	CLIP-seq
MIRT1400027	hsa-miR-4773	CLIP-seq
MIRT1400028	hsa-miR-4786-5p	CLIP-seq
MIRT1400029	hsa-miR-4793-3p	CLIP-seq
MIRT1400030	hsa-miR-4793-5p	CLIP-seq
MIRT1400031	hsa-miR-4794	CLIP-seq
MIRT1400032	hsa-miR-4795-3p	CLIP-seq
MIRT1400033	hsa-miR-485-5p	CLIP-seq
MIRT1400034	hsa-miR-490-3p	CLIP-seq
MIRT1400035	hsa-miR-494	CLIP-seq
MIRT1400036	hsa-miR-495	CLIP-seq
MIRT1400037	hsa-miR-508-5p	CLIP-seq
MIRT1400038	hsa-miR-516a-3p	CLIP-seq
MIRT1400039	hsa-miR-541	CLIP-seq
MIRT1400040	hsa-miR-564	CLIP-seq
MIRT1400041	hsa-miR-570	CLIP-seq
MIRT1400042	hsa-miR-575	CLIP-seq
MIRT1400043	hsa-miR-590-3p	CLIP-seq
MIRT1400044	hsa-miR-612	CLIP-seq
MIRT1400045	hsa-miR-625	CLIP-seq
MIRT1400046	hsa-miR-654-5p	CLIP-seq
MIRT1400047	hsa-miR-661	CLIP-seq
MIRT1400048	hsa-miR-766	CLIP-seq
MIRT1400049	hsa-miR-769-5p	CLIP-seq
MIRT1400050	hsa-miR-892b	CLIP-seq
MIRT2119920	hsa-let-7a	CLIP-seq
MIRT2119921	hsa-let-7b	CLIP-seq
MIRT2119922	hsa-let-7c	CLIP-seq
MIRT2119923	hsa-let-7d	CLIP-seq
MIRT2119924	hsa-let-7e	CLIP-seq
MIRT2119925	hsa-let-7f	CLIP-seq
MIRT2119926	hsa-let-7g	CLIP-seq
MIRT2119927	hsa-let-7i	CLIP-seq
MIRT2119928	hsa-miR-1238	CLIP-seq
MIRT1399955	hsa-miR-128	CLIP-seq
MIRT1399956	hsa-miR-1285	CLIP-seq
MIRT1399958	hsa-miR-1972	CLIP-seq
MIRT2119929	hsa-miR-202	CLIP-seq
MIRT1399961	hsa-miR-216a	CLIP-seq
MIRT1399962	hsa-miR-216b	CLIP-seq
MIRT1399964	hsa-miR-3065-3p	CLIP-seq
MIRT1399966	hsa-miR-3122	CLIP-seq
MIRT1399970	hsa-miR-3187-5p	CLIP-seq
MIRT1399972	hsa-miR-3192	CLIP-seq
MIRT1399973	hsa-miR-3197	CLIP-seq
MIRT1399976	hsa-miR-3614-5p	CLIP-seq
MIRT1399978	hsa-miR-3650	CLIP-seq
MIRT1399980	hsa-miR-3672	CLIP-seq
MIRT2119930	hsa-miR-3679-3p	CLIP-seq
MIRT1399983	hsa-miR-3689a-3p	CLIP-seq
MIRT1399984	hsa-miR-3689c	CLIP-seq
MIRT1399988	hsa-miR-3913-5p	CLIP-seq
MIRT1399990	hsa-miR-3929	CLIP-seq
MIRT1399991	hsa-miR-4252	CLIP-seq
MIRT2119931	hsa-miR-4277	CLIP-seq
MIRT1399996	hsa-miR-4419b	CLIP-seq
MIRT2119932	hsa-miR-4436a	CLIP-seq
MIRT2119933	hsa-miR-4446-5p	CLIP-seq
MIRT2119934	hsa-miR-4458	CLIP-seq
MIRT1400002	hsa-miR-4478	CLIP-seq
MIRT2119935	hsa-miR-4500	CLIP-seq
MIRT1400009	hsa-miR-4649-3p	CLIP-seq
MIRT1400010	hsa-miR-4650-5p	CLIP-seq
MIRT1400019	hsa-miR-4728-5p	CLIP-seq
MIRT1400024	hsa-miR-4761-5p	CLIP-seq
MIRT1400026	hsa-miR-4768-3p	CLIP-seq
MIRT1400029	hsa-miR-4793-3p	CLIP-seq
MIRT1400033	hsa-miR-485-5p	CLIP-seq
MIRT1400037	hsa-miR-508-5p	CLIP-seq
MIRT2119936	hsa-miR-5096	CLIP-seq
MIRT2119937	hsa-miR-513b	CLIP-seq
MIRT1400039	hsa-miR-541	CLIP-seq
MIRT2119938	hsa-miR-595	CLIP-seq
MIRT1400044	hsa-miR-612	CLIP-seq
MIRT1400046	hsa-miR-654-5p	CLIP-seq
MIRT1400047	hsa-miR-661	CLIP-seq
MIRT1400048	hsa-miR-766	CLIP-seq
MIRT2119939	hsa-miR-98	CLIP-seq
MIRT1399954	hsa-miR-1262	CLIP-seq
MIRT1399955	hsa-miR-128	CLIP-seq
MIRT1399956	hsa-miR-1285	CLIP-seq
MIRT2342025	hsa-miR-1299	CLIP-seq
MIRT2342026	hsa-miR-1324	CLIP-seq
MIRT1399958	hsa-miR-1972	CLIP-seq
MIRT1399961	hsa-miR-216a	CLIP-seq
MIRT1399962	hsa-miR-216b	CLIP-seq
MIRT2342027	hsa-miR-24	CLIP-seq
MIRT1399964	hsa-miR-3065-3p	CLIP-seq
MIRT1399966	hsa-miR-3122	CLIP-seq
MIRT1399969	hsa-miR-3157-5p	CLIP-seq
MIRT2342028	hsa-miR-3163	CLIP-seq
MIRT1399970	hsa-miR-3187-5p	CLIP-seq
MIRT1399977	hsa-miR-3622b-5p	CLIP-seq
MIRT1399980	hsa-miR-3672	CLIP-seq
MIRT2342029	hsa-miR-3678-3p	CLIP-seq
MIRT1399983	hsa-miR-3689a-3p	CLIP-seq
MIRT1399984	hsa-miR-3689c	CLIP-seq
MIRT1399988	hsa-miR-3913-5p	CLIP-seq
MIRT2342030	hsa-miR-3915	CLIP-seq
MIRT1399991	hsa-miR-4252	CLIP-seq
MIRT2342031	hsa-miR-4253	CLIP-seq
MIRT2342032	hsa-miR-4284	CLIP-seq
MIRT1399995	hsa-miR-4325	CLIP-seq
MIRT1399998	hsa-miR-4433	CLIP-seq
MIRT1399999	hsa-miR-4459	CLIP-seq
MIRT1400001	hsa-miR-4476	CLIP-seq
MIRT2342033	hsa-miR-4477b	CLIP-seq
MIRT1400005	hsa-miR-4504	CLIP-seq
MIRT1400008	hsa-miR-4645-5p	CLIP-seq
MIRT1400010	hsa-miR-4650-5p	CLIP-seq
MIRT1400013	hsa-miR-4673	CLIP-seq
MIRT1400015	hsa-miR-4683	CLIP-seq
MIRT1400016	hsa-miR-4701-3p	CLIP-seq
MIRT2342034	hsa-miR-4704-3p	CLIP-seq
MIRT2342035	hsa-miR-4722-3p	CLIP-seq
MIRT1400019	hsa-miR-4728-5p	CLIP-seq
MIRT1400020	hsa-miR-4738-3p	CLIP-seq
MIRT1400022	hsa-miR-4753-5p	CLIP-seq
MIRT1400023	hsa-miR-4755-3p	CLIP-seq
MIRT1400024	hsa-miR-4761-5p	CLIP-seq
MIRT1400025	hsa-miR-4767	CLIP-seq
MIRT1400026	hsa-miR-4768-3p	CLIP-seq
MIRT1400029	hsa-miR-4793-3p	CLIP-seq
MIRT1400030	hsa-miR-4793-5p	CLIP-seq
MIRT1400031	hsa-miR-4794	CLIP-seq
MIRT1400037	hsa-miR-508-5p	CLIP-seq
MIRT1400039	hsa-miR-541	CLIP-seq
MIRT1400044	hsa-miR-612	CLIP-seq
MIRT1400046	hsa-miR-654-5p	CLIP-seq
MIRT1400047	hsa-miR-661	CLIP-seq
MIRT1400048	hsa-miR-766	CLIP-seq
MIRT2342036	hsa-miR-875-3p	CLIP-seq
MIRT2395383	hsa-miR-1228	CLIP-seq
MIRT1399969	hsa-miR-3157-5p	CLIP-seq
MIRT1399972	hsa-miR-3192	CLIP-seq
MIRT1399983	hsa-miR-3689a-3p	CLIP-seq
MIRT1399984	hsa-miR-3689c	CLIP-seq
MIRT1399990	hsa-miR-3929	CLIP-seq
MIRT1399991	hsa-miR-4252	CLIP-seq
MIRT1399995	hsa-miR-4325	CLIP-seq
MIRT1399996	hsa-miR-4419b	CLIP-seq
MIRT2342033	hsa-miR-4477b	CLIP-seq
MIRT1400002	hsa-miR-4478	CLIP-seq
MIRT2395384	hsa-miR-4633-5p	CLIP-seq
MIRT1400019	hsa-miR-4728-5p	CLIP-seq
MIRT1400029	hsa-miR-4793-3p	CLIP-seq
MIRT1400033	hsa-miR-485-5p	CLIP-seq
MIRT1400047	hsa-miR-661	CLIP-seq
MIRT2460733	hsa-miR-10a	CLIP-seq
MIRT2460734	hsa-miR-10b	CLIP-seq
MIRT2460735	hsa-miR-139-5p	CLIP-seq
MIRT2460736	hsa-miR-339-5p	CLIP-seq
MIRT1399986	hsa-miR-371-5p	CLIP-seq
MIRT1399987	hsa-miR-371b-5p	CLIP-seq
MIRT2460737	hsa-miR-4421	CLIP-seq
MIRT1400012	hsa-miR-4668-5p	CLIP-seq
MIRT2460738	hsa-miR-4684-5p	CLIP-seq
MIRT2460739	hsa-miR-4725-5p	CLIP-seq
MIRT2460740	hsa-miR-504	CLIP-seq
MIRT2460741	hsa-miR-593	CLIP-seq
MIRT1400045	hsa-miR-625	CLIP-seq
MIRT2460733	hsa-miR-10a	CLIP-seq
MIRT2460734	hsa-miR-10b	CLIP-seq
MIRT2395383	hsa-miR-1228	CLIP-seq
MIRT2460735	hsa-miR-139-5p	CLIP-seq
MIRT1399958	hsa-miR-1972	CLIP-seq
MIRT1399961	hsa-miR-216a	CLIP-seq
MIRT1399962	hsa-miR-216b	CLIP-seq
MIRT1399964	hsa-miR-3065-3p	CLIP-seq
MIRT1399966	hsa-miR-3122	CLIP-seq
MIRT1399968	hsa-miR-3148	CLIP-seq
MIRT2460736	hsa-miR-339-5p	CLIP-seq
MIRT2635803	hsa-miR-3675-3p	CLIP-seq
MIRT1399983	hsa-miR-3689a-3p	CLIP-seq
MIRT1399984	hsa-miR-3689c	CLIP-seq
MIRT1399986	hsa-miR-371-5p	CLIP-seq
MIRT1399987	hsa-miR-371b-5p	CLIP-seq
MIRT1399988	hsa-miR-3913-5p	CLIP-seq
MIRT1399990	hsa-miR-3929	CLIP-seq
MIRT1399996	hsa-miR-4419b	CLIP-seq
MIRT2460737	hsa-miR-4421	CLIP-seq
MIRT1399998	hsa-miR-4433	CLIP-seq
MIRT1399999	hsa-miR-4459	CLIP-seq
MIRT1400002	hsa-miR-4478	CLIP-seq
MIRT2635804	hsa-miR-4509	CLIP-seq
MIRT1400010	hsa-miR-4650-5p	CLIP-seq
MIRT2460738	hsa-miR-4684-5p	CLIP-seq
MIRT2460739	hsa-miR-4725-5p	CLIP-seq
MIRT1400019	hsa-miR-4728-5p	CLIP-seq
MIRT2635805	hsa-miR-4744	CLIP-seq
MIRT1400024	hsa-miR-4761-5p	CLIP-seq
MIRT1400026	hsa-miR-4768-3p	CLIP-seq
MIRT1400033	hsa-miR-485-5p	CLIP-seq
MIRT2460740	hsa-miR-504	CLIP-seq
MIRT1400039	hsa-miR-541	CLIP-seq
MIRT2460741	hsa-miR-593	CLIP-seq
MIRT1400046	hsa-miR-654-5p	CLIP-seq
MIRT2460733	hsa-miR-10a	CLIP-seq
MIRT2460734	hsa-miR-10b	CLIP-seq
MIRT2395383	hsa-miR-1228	CLIP-seq
MIRT2460735	hsa-miR-139-5p	CLIP-seq
MIRT1399958	hsa-miR-1972	CLIP-seq
MIRT1399961	hsa-miR-216a	CLIP-seq
MIRT1399962	hsa-miR-216b	CLIP-seq
MIRT1399964	hsa-miR-3065-3p	CLIP-seq
MIRT1399966	hsa-miR-3122	CLIP-seq
MIRT1399973	hsa-miR-3197	CLIP-seq
MIRT2460736	hsa-miR-339-5p	CLIP-seq
MIRT2635803	hsa-miR-3675-3p	CLIP-seq
MIRT1399983	hsa-miR-3689a-3p	CLIP-seq
MIRT1399984	hsa-miR-3689c	CLIP-seq
MIRT1399986	hsa-miR-371-5p	CLIP-seq
MIRT1399987	hsa-miR-371b-5p	CLIP-seq
MIRT1399988	hsa-miR-3913-5p	CLIP-seq
MIRT1399990	hsa-miR-3929	CLIP-seq
MIRT1399996	hsa-miR-4419b	CLIP-seq
MIRT2460737	hsa-miR-4421	CLIP-seq
MIRT1400002	hsa-miR-4478	CLIP-seq
MIRT2635804	hsa-miR-4509	CLIP-seq
MIRT1400009	hsa-miR-4649-3p	CLIP-seq
MIRT1400010	hsa-miR-4650-5p	CLIP-seq
MIRT2460738	hsa-miR-4684-5p	CLIP-seq
MIRT2460739	hsa-miR-4725-5p	CLIP-seq
MIRT1400019	hsa-miR-4728-5p	CLIP-seq
MIRT2635805	hsa-miR-4744	CLIP-seq
MIRT1400024	hsa-miR-4761-5p	CLIP-seq
MIRT1400033	hsa-miR-485-5p	CLIP-seq
MIRT2460740	hsa-miR-504	CLIP-seq
MIRT1400039	hsa-miR-541	CLIP-seq
MIRT2460741	hsa-miR-593	CLIP-seq
MIRT1400046	hsa-miR-654-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000149	Function	SNARE binding	IBA
GO:0005484	Function	SNAP receptor activity	IBA
GO:0005484	Function	SNAP receptor activity	IEA
GO:0005484	Function	SNAP receptor activity	TAS	9553086
GO:0005515	Function	Protein binding	IPI	16189514, 19804848, 19884660, 21900206, 21988832, 24722188, 25416956, 25910212, 26871637, 28514442, 30886144, 32296183, 32814053, 33961781
GO:0005794	Component	Golgi apparatus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0012505	Component	Endomembrane system	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0031201	Component	SNARE complex	IBA
GO:0031629	Process	Synaptic vesicle fusion to presynaptic active zone membrane	IBA
GO:0048278	Process	Vesicle docking	IBA
GO:0048787	Component	Presynaptic active zone membrane	IBA
GO:0061025	Process	Membrane fusion	TAS	9553086

MIM	HGNC	e!Ensembl
605014	11429	ENSG00000135604

O75558

Protein name

Syntaxin-11

Protein function

SNARE that acts to regulate protein transport between late endosomes and the trans-Golgi network.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00804	Syntaxin	41 → 239	Syntaxin	Domain

Sequence

MKDRLAELLDLSKQYDQQFPDGDDEFDSPHEDIVFETDHILESLYRDIRDIQDENQLLVA
DVKRLGKQNARFLTSMRRLSSIKRDTNSIAKAIKARGEVIHCKLRAMKELSEAAEAQHGP
HSAVARISRAQYNALTLTFQRAMHDYNQAEMKQRDNCKIRIQRQLEIMGKEVSGDQIEDM
FEQGKWDVFSENLLADVKGARAALNEIESRHRELLRLESRIRDVHELFLQMAVLVEKQAD
TLNVIELNVQKTVDYTGQAKAQVRKAVQYEEKNPCRTLCCFCCPCLK

Sequence length

287

Interactions

View interactions

	KEGG
	SNARE interactions in vesicular transport

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial hemophagocytic lymphohistiocytosis	Pathogenic; Likely pathogenic	rs431905512, rs2533806916	RCV004700400 RCV002510470	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hemophagocytic lymphohistiocytosis 4	Pathogenic; Likely pathogenic	rs431905512, rs143547259, rs758032054, rs2128757192, rs1317576992, rs794729649, rs483352901, rs104893996, rs2533803743, rs2533804808, rs754223770, rs770563158, rs2533803639, rs1013453454, rs1446340815 View all (9 more)	RCV000083252 RCV001925648 RCV001939692 RCV002246747 RCV002246748 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Autoinflammatory syndrome	Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF DEVELOPMENT OR MORPHOGENESIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HEMOPHAGOCYTIC LYMPHOCYTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STX11-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (32)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	26646725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	26646725		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial hemophagocytic lymphohistiocytosis	Hemophagocytic Lymphohistiocytosis	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fibrinogen Deficiency	Fibrinogen Deficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	31562900	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophagocytic lymphohistiocytosis familial 4	Hemophagocytic lymphohistiocytosis	Pubtator	17525286, 19967551, 24227526, 24910990, 31770233	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophagocytic Lymphohistiocytosis Familial 5	Hemophagocytic lymphohistiocytosis	Pubtator	19804848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophagocytic Lymphohistiocytosis Familial 5	Hemophagocytic lymphohistiocytosis	Pubtator	22791290	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemophagocytic lymphohistiocytosis, familial, 4	Hemophagocytic Lymphohistiocytosis	BEFREE	17525286, 22767500, 26771955		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophagocytic lymphohistiocytosis, familial, 4	Hemophagocytic Lymphohistiocytosis	GENOMICS_ENGLAND_DG	26176172		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophagocytic lymphohistiocytosis, familial, 4	Hemophagocytic Lymphohistiocytosis	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemophagocytic lymphohistiocytosis, familial, 4	Hemophagocytic Lymphohistiocytosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hemorrhage	Hemorrhage	Pubtator	28399723	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Histiocytosis haematophagic	Histiocytosis Haematophagic	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	33672678	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphoid	Lymphoid leukemia	Pubtator	29599780	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	16582076, 26646725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16582076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	16582076, 17785771, 18547321, 18710388, 19884660, 19967551, 21342435, 21370424, 21931115, 22796692, 23287865, 24524345, 24916509, 25233452, 26176172 View all (16 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis Hemophagocytic	Hemophagocytic lymphohistiocytosis	Pubtator	19804848	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	LHGDN	16278825, 17525286		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphohistiocytosis, Hemophagocytic	Lymphohistiocytosis	BEFREE	18421721, 19967551, 21298754, 23160464, 24524345, 26709266, 28353193		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16582076		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	16582076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	16582076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26176172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	26176172		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary immune deficiency disorder	immunodeficiency	BEFREE	26771955		★★★★★ ★☆☆☆☆ Found in Text Mining only
Psychomotor Disorders	Psychiatric disorders	Pubtator	16582076	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

STX11 (syntaxin 11)