SEZ6L2
Homo sapiens
Gene Name: SEZ6L2 seizure related 6 homolog (mouse)-like 2
Aliases: PSK-1; FLJ90517; SEZ6L2
Chromosome No: 16
Chromosome Band: 16p11.2
Genetic Category: Rare Single Gene variant-Genetic Association
Aliases: PSK-1; FLJ90517; SEZ6L2
Chromosome No: 16
Chromosome Band: 16p11.2
Genetic Category: Rare Single Gene variant-Genetic Association
Summary Statistics:
ASD Reports: 7
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 5
Evidence score: 2
ASD Reports: 7
Recent Reports: 1
Annotated variants: 11
Associated CNVs: 5
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Several studies have found rare variants and genetic association of the SEZ6L2 gene with autism (e.g. Kumar et al., 2009).
Molecular Function
transmembrane receptor, may contribute to specialized endoplasmic reticulum functions in neurons
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association and mutation analyses of 16p11.2 autism candidate genes.
ASD
Support
Association between microdeletion and microduplication at 16p11.2 and autism.
ASD
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Highly Cited
Disturbance of cerebellar synaptic maturation in mutant mice lacking BSRPs, a novel brain-specific receptor-like protein family.
Recent Recommendation
Genome-wide association study of anthropometric traits in Korcula Island, Croatia.
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
GEN227C001
missense_variant
rs117448844
c.1157G>A
p.Arg386His
AGRE, NIMH
Discovery
