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

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
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]

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

Show/Hide all(11)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000145	Component	Exocyst	IBA	21873635
GO:0005546	Function	Phosphatidylinositol-4,5-bisphosphate binding	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005912	Component	Adherens junction	HDA	25468996
GO:0006887	Process	Exocytosis	IBA	21873635
GO:0006893	Process	Golgi to plasma membrane transport	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0035542	Process	Regulation of SNARE complex assembly	IDA	12145319
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

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

MSAKSAISKEIFAPLDERMLGAVQVKRRTKKKIPFLATGGQGEYLTYICLSVTNKKPTQA
SITKVKQFEGSTSFVRRSQWMLEQLRQVNGIDPNGDSAEFDLLFENAFDQWVASTASEKC
TFFQILHHTCQRYLTDRKPEFINCQSKIMGGNSILHSAADSVTSAVQKASQALNERGERL
GRAEEKTEDLKNSAQQFAETAHKLAMKHKC

Sequence length

210

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	20071347

Show/Hide Unknown Diseases (1)

Disease term	Disease name	Evidence	References	Source
Unknown
Glioblastoma	Glioblastoma	CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587		GWAS, CBGDA

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
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

STXBP6 (syntaxin binding protein 6)