STXBP5
Homo sapiens
Gene Name: Syntaxin binding protein 5 (tomosyn)
Aliases: RP11-361F15.4, LGL3, LLGL3, Nbla04300
Chromosome No: 6
Chromosome Band: 6q24.3
Genetic Category: Rare single gene variant-
Aliases: RP11-361F15.4, LGL3, LLGL3, Nbla04300
Chromosome No: 6
Chromosome Band: 6q24.3
Genetic Category: Rare single gene variant-
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 20
Associated CNVs: 5
Evidence score: 3
ASD Reports: 7
Recent Reports: 1
Annotated variants: 20
Associated CNVs: 5
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
Potentially damaging heterozygous missense variants in the STXBP5 gene were identified in affected members of two extended multiplex ASD families (Cukier et al., 2014).
Molecular Function
Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
Novel copy number variants in children with autism and additional developmental anomalies.
ASD
Support
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
DD, hypotonia
Support
De novo genic mutations among a Chinese autism spectrum disorder cohort.
ASD
Recent Recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN598R001
missense_variant
c.1234C>G
p.Leu412Val
Familial
Extended multiplex (at least one pair of ASD affec
GEN598R002
missense_variant
c.1505A>G
p.Tyr502Cys
Familial
Extended multiplex (at least one pair of ASD affec
GEN598R007
missense_variant
c.826A>G
p.Ile276Val
Familial
Maternal
Simplex
GEN598R009
missense_variant
c.2405C>T
p.Thr802Met
Familial
Maternal
Simplex
GEN598R010
missense_variant
c.3236A>T
p.Gln1079Leu
Familial
Maternal
Simplex
Common
No Common Variants Available