STXBP5L (syntaxin binding protein 5L)

Gene

• Entrez ID: 9515
• Gene name: Syntaxin binding protein 5L
• Gene symbol: STXBP5L
• Synonyms (NCBI Gene): LLGL4
• Chromosome: 3
• Chromosome location: 3q13.33
• Summary: The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that th

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT653007	hsa-miR-5193	HITS-CLIP	23824327
MIRT653006	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT653005	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653004	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653003	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653002	hsa-miR-150-3p	HITS-CLIP	23824327
MIRT653001	hsa-miR-1263	HITS-CLIP	23824327
MIRT653000	hsa-miR-4263	HITS-CLIP	23824327
MIRT652999	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT653007	hsa-miR-5193	HITS-CLIP	23824327
MIRT653006	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT653005	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653004	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653003	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653002	hsa-miR-150-3p	HITS-CLIP	23824327
MIRT653001	hsa-miR-1263	HITS-CLIP	23824327
MIRT653000	hsa-miR-4263	HITS-CLIP	23824327
MIRT652999	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT531585	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT531584	hsa-miR-208a-5p	PAR-CLIP	22012620
MIRT531583	hsa-miR-208b-5p	PAR-CLIP	22012620
MIRT531582	hsa-miR-5579-3p	PAR-CLIP	22012620
MIRT531581	hsa-miR-6509-3p	PAR-CLIP	22012620
MIRT531580	hsa-miR-4436b-5p	PAR-CLIP	22012620
MIRT531578	hsa-miR-6083	PAR-CLIP	22012620
MIRT531579	hsa-miR-3692-3p	PAR-CLIP	22012620
MIRT653007	hsa-miR-5193	HITS-CLIP	23824327
MIRT653006	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT653005	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653004	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653003	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653002	hsa-miR-150-3p	HITS-CLIP	23824327
MIRT653001	hsa-miR-1263	HITS-CLIP	23824327
MIRT653000	hsa-miR-4263	HITS-CLIP	23824327
MIRT652999	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT653007	hsa-miR-5193	HITS-CLIP	23824327
MIRT653006	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT653005	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT653004	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT653003	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT653002	hsa-miR-150-3p	HITS-CLIP	23824327
MIRT653001	hsa-miR-1263	HITS-CLIP	23824327
MIRT653000	hsa-miR-4263	HITS-CLIP	23824327
MIRT652999	hsa-miR-576-5p	HITS-CLIP	23824327
MIRT531585	hsa-miR-374c-3p	PAR-CLIP	22012620
MIRT531584	hsa-miR-208a-5p	PAR-CLIP	22012620
MIRT531583	hsa-miR-208b-5p	PAR-CLIP	22012620
MIRT531582	hsa-miR-5579-3p	PAR-CLIP	22012620
MIRT531581	hsa-miR-6509-3p	PAR-CLIP	22012620
MIRT531580	hsa-miR-4436b-5p	PAR-CLIP	22012620
MIRT531578	hsa-miR-6083	PAR-CLIP	22012620
MIRT531579	hsa-miR-3692-3p	PAR-CLIP	22012620
MIRT1401717	hsa-miR-103b	CLIP-seq
MIRT1401718	hsa-miR-1185	CLIP-seq
MIRT1401719	hsa-miR-1257	CLIP-seq
MIRT1401720	hsa-miR-1272	CLIP-seq
MIRT1401721	hsa-miR-129-5p	CLIP-seq
MIRT1401722	hsa-miR-139-5p	CLIP-seq
MIRT1401723	hsa-miR-140-5p	CLIP-seq
MIRT1401724	hsa-miR-155	CLIP-seq
MIRT1401725	hsa-miR-15a	CLIP-seq
MIRT1401726	hsa-miR-15b	CLIP-seq
MIRT1401727	hsa-miR-16	CLIP-seq
MIRT1401728	hsa-miR-195	CLIP-seq
MIRT1401729	hsa-miR-2053	CLIP-seq
MIRT1401730	hsa-miR-2054	CLIP-seq
MIRT1401731	hsa-miR-2116	CLIP-seq
MIRT1401732	hsa-miR-214	CLIP-seq
MIRT1401733	hsa-miR-2276	CLIP-seq
MIRT1401734	hsa-miR-2355-5p	CLIP-seq
MIRT1401735	hsa-miR-2681	CLIP-seq
MIRT1401736	hsa-miR-302a	CLIP-seq
MIRT1401737	hsa-miR-302b	CLIP-seq
MIRT1401738	hsa-miR-302c	CLIP-seq
MIRT1401739	hsa-miR-302d	CLIP-seq
MIRT1401740	hsa-miR-302e	CLIP-seq
MIRT1401741	hsa-miR-3127-3p	CLIP-seq
MIRT1401742	hsa-miR-3136-5p	CLIP-seq
MIRT1401743	hsa-miR-3140-3p	CLIP-seq
MIRT1401744	hsa-miR-3155	CLIP-seq
MIRT1401745	hsa-miR-3155b	CLIP-seq
MIRT1401746	hsa-miR-3545-5p	CLIP-seq
MIRT1401747	hsa-miR-3605-5p	CLIP-seq
MIRT1401748	hsa-miR-3607-3p	CLIP-seq
MIRT1401749	hsa-miR-3611	CLIP-seq
MIRT1401750	hsa-miR-3619-5p	CLIP-seq
MIRT1401751	hsa-miR-3667-5p	CLIP-seq
MIRT1401752	hsa-miR-3674	CLIP-seq
MIRT1401753	hsa-miR-3679-3p	CLIP-seq
MIRT1401754	hsa-miR-3679-5p	CLIP-seq
MIRT1401755	hsa-miR-3682-3p	CLIP-seq
MIRT1401756	hsa-miR-372	CLIP-seq
MIRT1401757	hsa-miR-373	CLIP-seq
MIRT1401758	hsa-miR-375	CLIP-seq
MIRT1401759	hsa-miR-424	CLIP-seq
MIRT1401760	hsa-miR-4273	CLIP-seq
MIRT1401761	hsa-miR-4286	CLIP-seq
MIRT1401762	hsa-miR-4329	CLIP-seq
MIRT1401763	hsa-miR-4426	CLIP-seq
MIRT1401764	hsa-miR-4436a	CLIP-seq
MIRT1401765	hsa-miR-4439	CLIP-seq
MIRT1401766	hsa-miR-4446-5p	CLIP-seq
MIRT1401767	hsa-miR-4460	CLIP-seq
MIRT1401768	hsa-miR-4473	CLIP-seq
MIRT1401769	hsa-miR-4493	CLIP-seq
MIRT1401770	hsa-miR-4513	CLIP-seq
MIRT1401771	hsa-miR-4524	CLIP-seq
MIRT1401772	hsa-miR-4639-5p	CLIP-seq
MIRT1401773	hsa-miR-4647	CLIP-seq
MIRT1401774	hsa-miR-4662b	CLIP-seq
MIRT1401775	hsa-miR-4672	CLIP-seq
MIRT1401776	hsa-miR-4677-5p	CLIP-seq
MIRT1401777	hsa-miR-4684-5p	CLIP-seq
MIRT1401778	hsa-miR-4694-3p	CLIP-seq
MIRT1401779	hsa-miR-4696	CLIP-seq
MIRT1401780	hsa-miR-4700-3p	CLIP-seq
MIRT1401781	hsa-miR-4775	CLIP-seq
MIRT1401782	hsa-miR-4786-5p	CLIP-seq
MIRT1401783	hsa-miR-4796-5p	CLIP-seq
MIRT1401784	hsa-miR-484	CLIP-seq
MIRT1401785	hsa-miR-497	CLIP-seq
MIRT1401786	hsa-miR-503	CLIP-seq
MIRT1401787	hsa-miR-512-3p	CLIP-seq
MIRT1401788	hsa-miR-518a-5p	CLIP-seq
MIRT1401789	hsa-miR-519a	CLIP-seq
MIRT1401790	hsa-miR-519b-3p	CLIP-seq
MIRT1401791	hsa-miR-519c-3p	CLIP-seq
MIRT1401792	hsa-miR-520a-3p	CLIP-seq
MIRT1401793	hsa-miR-520b	CLIP-seq
MIRT1401794	hsa-miR-520c-3p	CLIP-seq
MIRT1401795	hsa-miR-520d-3p	CLIP-seq
MIRT1401796	hsa-miR-520e	CLIP-seq
MIRT1401797	hsa-miR-520f	CLIP-seq
MIRT1401798	hsa-miR-522	CLIP-seq
MIRT1401799	hsa-miR-527	CLIP-seq
MIRT1401800	hsa-miR-539	CLIP-seq
MIRT1401801	hsa-miR-569	CLIP-seq
MIRT1401802	hsa-miR-580	CLIP-seq
MIRT1401803	hsa-miR-593	CLIP-seq
MIRT1401804	hsa-miR-646	CLIP-seq
MIRT1401805	hsa-miR-657	CLIP-seq
MIRT1401806	hsa-miR-659	CLIP-seq
MIRT1401807	hsa-miR-758	CLIP-seq
MIRT1401808	hsa-miR-761	CLIP-seq
MIRT1401809	hsa-miR-769-5p	CLIP-seq
MIRT1401810	hsa-miR-943	CLIP-seq
MIRT1554303	hsa-miR-125a-5p	CLIP-seq
MIRT1554304	hsa-miR-125b	CLIP-seq
MIRT1554305	hsa-miR-3140-5p	CLIP-seq
MIRT1554306	hsa-miR-4319	CLIP-seq
MIRT1554307	hsa-miR-4427	CLIP-seq
MIRT1401766	hsa-miR-4446-5p	CLIP-seq
MIRT1554308	hsa-miR-4732-3p	CLIP-seq
MIRT1554309	hsa-miR-4755-5p	CLIP-seq
MIRT1554310	hsa-miR-513a-3p	CLIP-seq
MIRT1401806	hsa-miR-659	CLIP-seq
MIRT1554311	hsa-miR-670	CLIP-seq
MIRT1920932	hsa-miR-27a	CLIP-seq
MIRT1920933	hsa-miR-27b	CLIP-seq
MIRT1920934	hsa-miR-3192	CLIP-seq
MIRT1920935	hsa-miR-4294	CLIP-seq
MIRT1920936	hsa-miR-4314	CLIP-seq
MIRT1920937	hsa-miR-4433	CLIP-seq
MIRT1920938	hsa-miR-4646-5p	CLIP-seq
MIRT1920939	hsa-miR-513a-5p	CLIP-seq
MIRT2120434	hsa-miR-1271	CLIP-seq
MIRT2120435	hsa-miR-182	CLIP-seq
MIRT1401743	hsa-miR-3140-3p	CLIP-seq
MIRT2120436	hsa-miR-3187-3p	CLIP-seq
MIRT2120437	hsa-miR-3942-3p	CLIP-seq
MIRT2120438	hsa-miR-4282	CLIP-seq
MIRT2120439	hsa-miR-4435	CLIP-seq
MIRT1401766	hsa-miR-4446-5p	CLIP-seq
MIRT2120440	hsa-miR-4642	CLIP-seq
MIRT2120441	hsa-miR-4701-5p	CLIP-seq
MIRT1554309	hsa-miR-4755-5p	CLIP-seq
MIRT2120442	hsa-miR-489	CLIP-seq
MIRT1554310	hsa-miR-513a-3p	CLIP-seq
MIRT2120443	hsa-miR-548s	CLIP-seq
MIRT2120444	hsa-miR-588	CLIP-seq
MIRT2120445	hsa-miR-96	CLIP-seq
MIRT2342571	hsa-miR-105	CLIP-seq
MIRT2342572	hsa-miR-3166	CLIP-seq
MIRT2120436	hsa-miR-3187-3p	CLIP-seq
MIRT2342573	hsa-miR-34b	CLIP-seq
MIRT2342574	hsa-miR-3686	CLIP-seq
MIRT2342575	hsa-miR-377	CLIP-seq
MIRT2342576	hsa-miR-3913-3p	CLIP-seq
MIRT2342577	hsa-miR-4259	CLIP-seq
MIRT2342578	hsa-miR-4289	CLIP-seq
MIRT1920937	hsa-miR-4433	CLIP-seq
MIRT2120439	hsa-miR-4435	CLIP-seq
MIRT1401766	hsa-miR-4446-5p	CLIP-seq
MIRT2342579	hsa-miR-4529-5p	CLIP-seq
MIRT2342580	hsa-miR-4652-3p	CLIP-seq
MIRT2342581	hsa-miR-4659a-3p	CLIP-seq
MIRT2342582	hsa-miR-4659b-3p	CLIP-seq
MIRT2120441	hsa-miR-4701-5p	CLIP-seq
MIRT2342583	hsa-miR-4715-5p	CLIP-seq
MIRT2342584	hsa-miR-4742-3p	CLIP-seq
MIRT1554309	hsa-miR-4755-5p	CLIP-seq
MIRT2342585	hsa-miR-4777-5p	CLIP-seq
MIRT2342586	hsa-miR-483-3p	CLIP-seq
MIRT2120442	hsa-miR-489	CLIP-seq
MIRT1554310	hsa-miR-513a-3p	CLIP-seq
MIRT2342587	hsa-miR-548a-3p	CLIP-seq
MIRT2342588	hsa-miR-548aa	CLIP-seq
MIRT2342589	hsa-miR-548e	CLIP-seq
MIRT2342590	hsa-miR-548f	CLIP-seq
MIRT2120443	hsa-miR-548s	CLIP-seq
MIRT2342591	hsa-miR-577	CLIP-seq
MIRT2120444	hsa-miR-588	CLIP-seq
MIRT2342592	hsa-miR-624	CLIP-seq
MIRT2342593	hsa-miR-759	CLIP-seq
MIRT2395406	hsa-miR-3652	CLIP-seq
MIRT2395407	hsa-miR-4430	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0006887	Process	Exocytosis	IBA
GO:0006887	Process	Exocytosis	IEA
GO:0006893	Process	Golgi to plasma membrane transport	IBA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0019905	Function	Syntaxin binding	IBA
GO:0031201	Component	SNARE complex	IBA
GO:0045159	Function	Myosin II binding	IBA

Other IDs

• MIM: 609381
• HGNC: 30757
• e!Ensembl: ENSG00000145087

Protein

• UniProt ID: Q9Y2K9
• Protein name: Syntaxin-binding protein 5-like (Lethal(2) giant larvae protein homolog 4) (Tomosyn-2)
• Protein function: Plays a role in vesicle trafficking and exocytosis inhibition. In pancreatic beta-cells, inhibits insulin secretion probably by interacting with and regulating STX1A and STX4, key t-SNARE proteins involved in the fusion of insulin granules to th
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00400	WD40	242 → 278	WD domain, G-beta repeat	Repeat
  PF08366	LLGL	288 → 397	LLGL2	Family
  PF08596	Lgl_C	812 → 1073	Lethal giant larvae(Lgl) like, C-terminal	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in kidney, hippocampus and lung carcinoma. {ECO:0000269|PubMed:14767561}.
• Sequence:

  MKKFNFRKVLDGLTASSPGSGSSSGSNSGGGAGSGSVHPAGTAGVLREEIQETLTSEYFQ
  ICKTVRHGFPHQPTALAFDPVQKILAIGTRTGAIRILGRPGVDCYCQHESGAAVLQLQFL
  INEGALVSASSDDTLHLWNLRQKRPAILHSLKFNRERITYCHLPFQSKWLYVGTERGNTH
  IVNIESFILSGYVIMWNKAIELSTKTHPGPVVHLSDSPRDEGKLLIGYENGTVVFWDLKS
  KRAELRVYYDEAIHSIDWHHEGKQFMCSHSDGSLTLWNLKSPSRPFQTTIPHGKSQREGR
  KSESCKPILKVEYKTCKNSEPFIIFSGGLSYDKACRRPSLTIMHGKAITVLEMDHPIVEF
  LTLCETPYPNEFQEPYAVVVLLEKDLIVVDLTQSNFPIFENPYPMDIHESPVTCTAYFAD
  CPPDLILVLYSIGVKHKKQGYSNKEWPISGGAWNLGAQTYPEIIITGHADGSIKFWDASA
  ITLQMLYKLKTSKVFEKQKVGEGKQTCEIVEEDPFAIQMIYWCPESRIFCVSGVSAYVII
  YKFSRHEITTEIVSLEVRLQYDVEDIITPEPETSPPFPDLSAQLPSSRSLSGSTNTVASE
  GVTKDSIPCLNVKTRPVRMPPGYQAELVIQLVWVDGEPPQQITSLAVSSAYGIVAFGNCN
  GLAVVDFIQKTVLLSMGTIDLYRSSDLYQRQPRSPRKNKQFIADNFCMRGLSNFYPDLTK
  RIRTSYQSLTELNDSPVPLELERCKSPTSDHVNGHCTSPTSQSCSSGKRLSSADVSKVNR
  WGPGRPPFRKAQSAACMEISLPVTTEENRENSYNRSRSSSISSIDKDSKEAITALYFMDS
  FARKNDSTISPCLFVGTSLGMVLIISLNLPLADEQRFTEPVMVLPSGTFLSLKGAVLTFS
  CMDRMGGLMQPPYEVWRDPNNIDENEKSWRRKVVMNSSSASQEIGDHQYTIICSEKQAKV
  FSLPSQTCLYVHNITETSFILQANVVVMCSSACLACFCANGHIMIMSLPSLRPMLDVNYL
  PLTDMRIARTFCFTNEGQALYLVSPTEIQRLTYSQEMCDNLQDMLGDLFTPIETPEAQNR
  GFLKGLFGGSGQTFDREELFGEASAGKASRSLAQHIPGPGSIEGMKGAAGGVMGELTRAR
  IALDERGQRLGELEEKTAGMMTSAEAFSKHAHELMLKYKDKKWYQF

• Sequence length: 1186

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Colorectal cancer	Uncertain significance	rs77475405	RCV005939235
Nonpapillary renal cell carcinoma	Uncertain significance	rs77475405	RCV005939234
STXBP5L-related disorder	Uncertain significance; Likely benign; Benign	rs1348245613, rs139305792, rs755945286, rs2546707035, rs13094925, rs190278242, rs183828872, rs372303212, rs182836802, rs17740066, rs751191295, rs376002630	RCV003408580 RCV003954185 RCV003919697 RCV003896260 RCV003904176 RCV003959682 RCV003959809 RCV003959026 RCV003944354 RCV003972317 RCV003976920 RCV004756566
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs77475405	RCV005939236

Associations from Text Mining
Disease Name	Relationship Type	References
Carcinoma Hepatocellular	Associate	35473892
Fibrosis	Associate	19586676
Liver Cirrhosis	Associate	19586676
Liver Diseases	Associate	19586676
Neurodegenerative Diseases	Associate	25504045