SCN7A
Homo sapiens
Gene Name: sodium voltage-gated channel alpha subunit 7
Aliases: NaG, Nav2.1, Nav2.2, SCN6A
Chromosome No: 2
Chromosome Band: 2q24.3
Genetic Category: Rare Single Gene variant
Aliases: NaG, Nav2.1, Nav2.2, SCN6A
Chromosome No: 2
Chromosome Band: 2q24.3
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 7
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 9
Evidence score: 3
ASD Reports: 7
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 9
Evidence score: 3
| Associated Disorders: |
|
Relevance to Autism
A homozygous deletion nearest to the noncoding 5' region of the SCN7A gene was identified in an ASD case; both parents, who were first cousins, were hemizygous for the deletion, and the deletion was absent in two unaffected siblings (Morrow et al., 2008).
Molecular Function
Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ions may pass in accordance with their electrochemical gradient.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Identifying autism loci and genes by tracing recent shared ancestry.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
DD, ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN485R004
frameshift_variant
c.3675del
p.Met1225IlefsTer13
Familial
Maternal
Multiplex
GEN485R005
splice_site_variant
c.1801-2A>G
Familial
Maternal
Multiplex (monozygotic twins)
GEN485R006
frameshift_variant
c.797_798del
p.Lys266MetfsTer9
Familial
Maternal
Multiplex
GEN485R007a
missense_variant
c.281C>A
p.Ala94Glu
Familial
Both parents
Multiplex
GEN485R010
frameshift_variant
c.3551_3554del
p.Pro1184ArgfsTer4
Familial
Maternal
Multiplex
Common
No Common Variants Available