Gene Gene information from NCBI Gene database.
Entrez ID 134957
Gene name Syntaxin binding protein 5
Gene symbol STXBP5
Synonyms (NCBI Gene)
LGL3LLGL3Nbla04300
Chromosome 6
Chromosome location 6q24.3
Summary Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin
miRNA miRNA information provided by mirtarbase database.
541
miRTarBase ID miRNA Experiments Reference
MIRT030955 hsa-miR-21-5p Microarray 20048743
MIRT739164 hsa-miR-211 HITS-CLIP 33718276
MIRT739165 hsa-miR-4755-5p HITS-CLIP 33718276
MIRT739167 hsa-miR-4446-5p HITS-CLIP 33718276
MIRT739168 hsa-miR-4328 HITS-CLIP 33718276
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
33
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
GO:0005886 Component Plasma membrane IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604586 19665 ENSG00000164506
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5T5C0
Protein name Syntaxin-binding protein 5 (Lethal(2) giant larvae protein homolog 3) (Tomosyn-1)
Protein function Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 231 265 WD domain, G-beta repeat Repeat
PF08366 LLGL 275 384 LLGL2 Family
PF08596 Lgl_C 897 1061 Lethal giant larvae(Lgl) like, C-terminal Family
Sequence
MRKFNIRKVLDGLTAGSSSASQQQQQQHPPGNREPEIQETLQSEHFQLCKTVRHGFPYQP
SALAFDPVQKILAVGTQTGALRLFGRPGVECYCQHDSGAAVIQLQFLINEGALVSALADD
TLHLWNLRQKRPAILHSLKFCRERVTFCHLPFQSKWLYVGTERGNIHIVNVESFTLSGYV
IMWNKAIELSSKSHPGPVVHISDNPMDEGKLLIGFESGTVVLWDLKSKKADYRYTYDEAI
HSVAWHHEGKQFICSHSDGTLTIWN
VRSPAKPVQTITPHGKQLKDGKKPEPCKPILKVEF
KTTRSGEPFIILSGGLSYDTVGRRPCLTVMHGKSTAVLEMDYSIVDFLTLCETPYPNDFQ
EPYAVVVLLEKDLVLIDLAQNGYP
IFENPYPLSIHESPVTCCEYFADCPVDLIPALYSVG
ARQKRQGYSKKEWPINGGNWGLGAQSYPEIIITGHADGSVKFWDASAITLQVLYKLKTSK
VFEKSRNKDDRPNTDIVDEDPYAIQIISWCPESRMLCIAGVSAHVIIYRFSKQEVITEVI
PMLEVRLLYEINDVETPEGEQPPPLPTPVGGSNPQPIPPQSHPSTSSSSSDGLRDNVPCL
KVKNSPLKQSPGYQTELVIQLVWVGGEPPQQITSLAVNSSYGLVVFGNCNGIAMVDYLQK
AVLLNLGTIELYGSNDPYRREPRSPRKSRQPSGAGLCDISEGTVVPEDRCKSPTSGSSSP
HNSDDEQKMNNFIEKVKTKSRKFSKMVANDIAKMSRKLSLPTDLKPDLDVKDNSFSRSRS
SSVTSIDKESREAISALHFCETFTRKTDSSPSPCLWVGTTLGTVLVIALNLPPGGEQRLL
QPVIVSPSGTILRLKGAILRMAFLDTTGCLIPPAYEPWREHNVPEEKDEKEKLKKRRPVS
VSPSSSQEISENQYAVICSEKQAKVISLPTQNCAYKQNITETSFVLRGDIVALSNSICLA
CFCANGHIMTFSLPSLRPLLDVYYLPLTNMRIARTFCFTNNGQALYLVSPTEIQRLTYSQ
ETCENLQEMLGELFTPVETPEAPNRGFFKGLFGGGAQSLDR
EELFGESSSGKASRSLAQH
IPGPGGIEGVKGAASGVVGELARARLALDERGQKLGDLEERTAAMLSSAESFSKHAHEIM
LKYKDKKWYQF
Sequence length 1151
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Autism spectrum disorder Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRONCHOPULMONARY DYSPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 27338266, 32241256, 34868337
★☆☆☆☆
Found in Text Mining only
Carotid Artery Thrombosis Associate 21156930
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 33976257
★☆☆☆☆
Found in Text Mining only
COVID 19 Associate 33536081, 35661455
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 32851733
★☆☆☆☆
Found in Text Mining only
Hemorrhage Associate 22792389
★☆☆☆☆
Found in Text Mining only
Insulin Resistance Associate 32851733
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 37280069
★☆☆☆☆
Found in Text Mining only
Nervous System Diseases Associate 35661455
★☆☆☆☆
Found in Text Mining only
Stroke Associate 37947097
★☆☆☆☆
Found in Text Mining only