STXBP6 (syntaxin binding protein 6)

Gene

• Entrez ID: 29091
• Gene name: Syntaxin binding protein 6
• Gene symbol: STXBP6
• Synonyms: HSPC156, amisyn
• 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]

miRNA

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

Gene ontology (GO)

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

Other IDs

• MIM: 607958
• HGNC: 19666
• e!Ensembl: 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

• Sequence:

  MSAKSAISKEIFAPLDERMLGAVQVKRRTKKKIPFLATGGQGEYLTYICLSVTNKKPTQA
  SITKVKQFEGSTSFVRRSQWMLEQLRQVNGIDPNGDSAEFDLLFENAFDQWVASTASEKC
  TFFQILHHTCQRYLTDRKPEFINCQSKIMGGNSILHSAADSVTSAVQKASQALNERGERL
  GRAEEKTEDLKNSAQQFAETAHKLAMKHKC

• Sequence length: 210

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	20071347