Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29091
Gene name Gene Name - the full gene name approved by the HGNC.
Syntaxin binding protein 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STXBP6
Synonyms (NCBI Gene) Gene synonyms aliases
HSPC156, amisyn
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
Summary Summary of gene provided in NCBI Entrez Gene.
STXBP6 binds components of the SNARE complex (see MIM 603215) and may be involved in regulating SNARE complex formation (Scales et al., 2002 [PubMed 12145319]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT607677 hsa-miR-6867-5p HITS-CLIP 23313552
MIRT607676 hsa-miR-574-5p HITS-CLIP 23313552
MIRT652998 hsa-miR-4539 HITS-CLIP 23824327
MIRT607677 hsa-miR-6867-5p HITS-CLIP 23824327
MIRT607676 hsa-miR-574-5p 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:0005737 Component Cytoplasm IEA
GO:0005912 Component Adherens junction HDA 25468996
GO:0016020 Component Membrane IEA
GO:0035493 Process SNARE complex assembly IDA 12145319
GO:0035542 Process Regulation of SNARE complex assembly IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607958 19666 ENSG00000168952
Protein
UniProt ID Q8NFX7
Protein name Syntaxin-binding protein 6 (Amisyn)
Protein function Forms non-fusogenic complexes with SNAP25 and STX1A and may thereby modulate the formation of functional SNARE complexes and exocytosis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15277 Sec3-PIP2_bind 42 132 Exocyst complex component SEC3 N-terminal PIP2 binding PH Domain
PF00957 Synaptobrevin 153 210 Synaptobrevin Family
Tissue specificity TISSUE SPECIFICITY: Detected at low levels in brain, and at very low levels in heart, adrenal gland, testis, liver and kidney. {ECO:0000269|PubMed:12145319}.
Sequence
Sequence length 210
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 28198450
Arthritis Rheumatoid Associate 22685579
Autism Spectrum Disorder Associate 36068227, 38003627
Epileptic Encephalopathy Early Infantile 3 Associate 38003627
Lung Diseases Interstitial Associate 23897225
Lung Neoplasms Associate 28198450, 30286088
Neoplasms Associate 28198450, 30286088
Urinary Bladder Neoplasms Associate 40696737