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

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Colorectal cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL ARTERIAL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STXBP5L-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35473892	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	21998599		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	19586676		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	19586676	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	19586676	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	25504045	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25504045		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29730043		★☆☆☆☆ Found in Text Mining only