STX1A
Homo sapiens
Gene Name: Syntaxin 1A (brain)
Aliases: HPC-1, P35-1, STX1, SYN1A
Chromosome No: 7
Chromosome Band: 7q11.23
Genetic Category: Genetic association-Genetic association/functional-Rare single gene variant
Aliases: HPC-1, P35-1, STX1, SYN1A
Chromosome No: 7
Chromosome Band: 7q11.23
Genetic Category: Genetic association-Genetic association/functional-Rare single gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 5
Evidence score: 2
ASD Reports: 7
Recent Reports: 1
Annotated variants: 15
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Nominal association of common variants in the STX1A gene with ASD (in particular high-functioning autism and Asperger syndrome) has been reported in several publications (Nakamura et al., 2008; Nakamura et al., 2011; Durdiakova et al., 2014).
Molecular Function
This gene encodes a member of the syntaxin superfamily. Syntaxins are nervous system-specific proteins implicated in the docking of synaptic vesicles with the presynaptic plasma membrane. This gene product is a key molecule in ion channel regulation and synaptic exocytosis.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic and expression analyses reveal elevated expression of syntaxin 1A ( STX1A) in high functioning autism.
ASD
Positive Association
STX1A and Asperger syndrome: a replication study.
ASD
Positive Association
Replication study of Japanese cohorts supports the role of STX1A in autism susceptibility.
ASD
Support
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.
ID, hypotonia
Support
Rare autism-associated variants implicate syntaxin 1 (STX1 R26Q) phosphorylation and the dopamine transporter (hDAT R51W) in dopamine neurotransmis...
ASD
Support
A part of patients with autism spectrum disorder has haploidy of HPC-1/syntaxin1A gene that possibly causes behavioral disturbance as in experiment...
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN600C001
synonymous_variant
rs2228607
c.204T>C
p.(=)
249 AGRE trios with male ASD probands; probands of 102 trios with IQ>70 (considered as high functioning autism; HFA)
Discovery
GEN600C002
intron_variant
rs4717806
c.678+698A>T;c.793+583A>T
T/A
249 AGRE trios with male ASD probands; probands of 102 trios with IQ>70 (considered as high functioning autism; HFA)
Discovery
GEN600C004
intron_variant
rs4717806
c.678+698A>T;c.793+583A>T
T/A
479 individuals with Asperger syndrome, 650 controls (all of Caucasian ancestry)
Replication
GEN600C005
intron_variant
rs941298
c.31-1811C>T
G/A
479 individuals with Asperger syndrome, 650 controls (all of Caucasian ancestry)
Discovery
