SEMA5A
Homo sapiens
Gene Name: sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
Aliases: Semaphorin 5A, semF, SEMAF
Chromosome No: 5
Chromosome Band: 5p15.31
Genetic Category: Functional-Genetic association/functional-Genetic association-Rare single gene variant-Rare single gene variant/Functional
Aliases: Semaphorin 5A, semF, SEMAF
Chromosome No: 5
Chromosome Band: 5p15.31
Genetic Category: Functional-Genetic association/functional-Genetic association-Rare single gene variant-Rare single gene variant/Functional
Summary Statistics:
ASD Reports: 20
Recent Reports: 5
Annotated variants: 17
Associated CNVs: 11
Evidence score: 3
ASD Reports: 20
Recent Reports: 5
Annotated variants: 17
Associated CNVs: 11
Evidence score: 3
| Associated Disorders: |
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Relevance to Autism
Expression of the SEMA5A gene has been shown to be down-regulated in some autistic individuals (Melin et al., 2006).
Molecular Function
The encoded protein is a member of the semaphorin family of membrane proteins that play roles in axonal guidance during neural development.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Positive Association
Polymorphism in the Promoter Region of SEMA5A Is Associated with Sociality Traits in Korean Subjects with Autism Spectrum Disorders.
ASD
Sociability traits (as measured by SRS)
Positive Association
A genome-wide linkage and association scan reveals novel loci for autism.
ASD
Negative Association
Lack of replication of previous autism spectrum disorder GWAS hits in European populations.
ASD
Negative Association
The association of rs4307059 and rs35678 markers with autism spectrum disorders is replicated in Italian families.
ASD
Support
A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability.
ASD
ID
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene ...
DD, ID, ASD
MCA
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
ASD
Highly Cited
Inactivation of the Sema5a gene results in embryonic lethality and defective remodeling of the cranial vascular system.
Recent Recommendation
Plexin-B3 is a functional receptor for semaphorin 5A.
Recent Recommendation
Semaphorin 5A inhibits synaptogenesis in early postnatal- and adult-born hippocampal dentate granule cells.
Recent Recommendation
The SEMA5A gene is associated with hippocampal volume, and their interaction is associated with performance on Raven's Progressive Matrices.
Recent Recommendation
An eQTL mapping approach reveals that rare variants in the SEMA5A regulatory network impact autism risk.
Recent Recommendation
Semaphorin 5A is a bifunctional axon guidance cue regulated by heparan and chondroitin sulfate proteoglycans.
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN226R005
missense_variant
c.2026C>T
p.Arg676Cys
Familial
Maternal
Simplex
GEN226R006
missense_variant
c.2983C>T
p.Arg995Trp
Familial
Maternal
Simplex
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN226C002
intergenic_variant
rs10513025
Replication: family samples from multiple centers
Replication
