• Gene id: 29091

Gene Summary

• Gene Symbol: STXBP6   Gene   UCSC   Ensembl
• Aliases: HSPC156, amisyn
• Gene name: syntaxin binding protein 6
• Alternate names: syntaxin-binding protein 6,
• Gene location: 14q12 (25050296: 24809653)     Exons: 17     NC_000014.9
• Gene summary(Entrez): 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]
• OMIM: 607958

Protein Summary

• Protein general information: Q8NFX7  
  • Name: Syntaxin binding protein 6 (Amisyn)
  • Length: 210  
  • Mass: 23554
  • Tissue specificity: Detected at low levels in brain, and at very low levels in heart, adrenal gland, testis, liver and kidney. {ECO
• Sequence:

  MSAKSAISKEIFAPLDERMLGAVQVKRRTKKKIPFLATGGQGEYLTYICLSVTNKKPTQASITKVKQFEGSTSFV
  RRSQWMLEQLRQVNGIDPNGDSAEFDLLFENAFDQWVASTASEKCTFFQILHHTCQRYLTDRKPEFINCQSKIMG
  GNSILHSAADSVTSAVQKASQALNERGERLGRAEEKTEDLKNSAQQFAETAHKLAMKHKC

• Structural information:
  • Protein Domains: (151..21-)
    homology (/note="v-SNARE-coiled-coil)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00290"-)
  • Interpro: IPR028258  IPR037821  IPR037822  IPR001388  IPR042855  
  • Prosite: PS50892
  • CDD: cd14681 cd15892
  • STRING: ENSP00000324302
• Other Databases: GeneCards:  STXBP6  Malacards:  STXBP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035542	regulation of SNARE complex assembly	IDA	biological process
GO:0045920	negative regulation of exocytosis	TAS	biological process
GO:0006893	Golgi to plasma membrane transport	IBA	biological process
GO:0051601	exocyst localization	IBA	biological process
GO:0017049	GTP-Rho binding	IBA	molecular function
GO:0006887	exocytosis	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005546	phosphatidylinositol-4,5-bisphosphate binding	IBA	molecular function
GO:0000145	exocyst	IBA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0035542	regulation of SNARE complex assembly	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0098641	cadherin binding involved in cell-cell adhesion	HDA	molecular function
GO:0005912	adherens junction	HDA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0098609	cell-cell adhesion	IEA	biological process

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray