Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	29091
Gene name	Syntaxin binding protein 6
Gene symbol	STXBP6
Synonyms (NCBI Gene)	HSPC156amisyn
Chromosome	14
Chromosome location	14q12
Summary	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]

Show/Hide all (53)

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
MIRT652998	hsa-miR-4539	HITS-CLIP	23824327
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607676	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607676	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607676	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	24906430
MIRT607676	hsa-miR-574-5p	HITS-CLIP	24906430
MIRT607676	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607676	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607676	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607676	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607676	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	27418678
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
MIRT652998	hsa-miR-4539	HITS-CLIP	23824327
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607676	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607676	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT607677	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT607676	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT1401811	hsa-miR-128	CLIP-seq
MIRT1401812	hsa-miR-1283	CLIP-seq
MIRT1401813	hsa-miR-1323	CLIP-seq
MIRT1401814	hsa-miR-329	CLIP-seq
MIRT1401815	hsa-miR-3613-3p	CLIP-seq
MIRT1401816	hsa-miR-362-3p	CLIP-seq
MIRT1401817	hsa-miR-3941	CLIP-seq
MIRT1401818	hsa-miR-4328	CLIP-seq
MIRT1401819	hsa-miR-4753-3p	CLIP-seq
MIRT1401820	hsa-miR-4768-5p	CLIP-seq
MIRT1401821	hsa-miR-4789-3p	CLIP-seq
MIRT1401822	hsa-miR-4789-5p	CLIP-seq
MIRT1401823	hsa-miR-495	CLIP-seq
MIRT1401824	hsa-miR-548o	CLIP-seq
MIRT1401825	hsa-miR-603	CLIP-seq
MIRT2120446	hsa-miR-3148	CLIP-seq
MIRT2120447	hsa-miR-4496	CLIP-seq

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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
GO:0045920	Process	Negative regulation of exocytosis	TAS	15217342
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098641	Function	Cadherin binding involved in cell-cell adhesion	HDA	25468996

MIM	HGNC	e!Ensembl
607958	19666	ENSG00000168952

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

MSAKSAISKEIFAPLDERMLGAVQVKRRTKKKIPFLATGGQGEYLTYICLSVTNKKPTQA
SITKVKQFEGSTSFVRRSQWMLEQLRQVNGIDPNGDSAEFDLLFENAFDQWVASTASEKC
TFFQILHHTCQRYLTDRKPEFINCQSKIMGGNSILHSAADSVTSAVQKASQALNERGERL
GRAEEKTEDLKNSAQQFAETAHKLAMKHKC

Sequence length

210

Interactions

View interactions

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)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28198450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	22685579	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	36068227, 38003627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	20071347		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	20071347		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma of lung	Lung carcinoma	BEFREE	28198450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26993066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	26993066		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	38003627	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	23897225	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28198450, 30286088	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28198450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	22685579		★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40696737	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

STXBP6 (syntaxin binding protein 6)