Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9515
Gene name Gene Name - the full gene name approved by the HGNC.
Syntaxin binding protein 5L
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STXBP5L
Synonyms (NCBI Gene) Gene synonyms aliases
LLGL4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.33
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
GO:0006887 Process Exocytosis IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609381 30757 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
LTLCETPYPNEFQEPYAVVVLLEKDLIVVDLTQSNFP
IFENPYPMDIHESPVTCTAYFAD
CPPDLILVLYSIGVKHKKQGYSNKEWPISGGAWNLGAQTYPEIIITGHADGSIKFWDASA
ITLQMLYKLKTSKVFEKQKVGEGKQTCEIVEEDPFAIQMIYWCPESRIFCVSGVSAYVII
YKFSRHEITTEIVSLEVRLQYDVEDIITPEPETSPPFPDLSAQLPSSRSLSGSTNTVASE
GVTKDSIPCLNVKTRPVRMPPGYQAELVIQLVWVDGEPPQQITSLAVSSAYGIVAFGNCN
GLAVVDFIQKTVLLSMGTIDLYRSSDLYQRQPRSPRKNKQFIADNFCMRGLSNFYPDLTK
RIRTSYQSLTELNDSPVPLELERCKSPTSDHVNGHCTSPTSQSCSSGKRLSSADVSKVNR
WGPGRPPFRKAQSAACMEISLPVTTEENRENSYNRSRSSSISSIDKDSKEAITALYFMDS
FARKNDSTISPCLFVGTSLGMVLIISLNLPLADEQRFTEPVMVLPSGTFLSLKGAVLTFS
CMDRMGGLMQPPYEVWRDPNNIDENEKSWRRKVVMNSSSASQEIGDHQYTIICSEKQAKV
FSLPSQTCLYVHNITETSFILQANVVVMCSSACLACFCANGHIMIMSLPSLRPMLDVNYL
PLTDMRIARTFCFTNEGQALYLVSPTEIQRLTYSQEMCDNLQDMLGDLFTPIE
TPEAQNR
GFLKGLFGGSGQTFDREELFGEASAGKASRSLAQHIPGPGSIEGMKGAAGGVMGELTRAR
IALDERGQRLGELEEKTAGMMTSAEAFSKHAHELMLKYKDKKWYQF
Sequence length 1186
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
29730043
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