SLC24A2
Homo sapiens
Gene Name: solute carrier family 24 member 2
Aliases: NCKX2
Chromosome No: 9
Chromosome Band: 9p22.1
Genetic Category: Rare single gene variant
Aliases: NCKX2
Chromosome No: 9
Chromosome Band: 9p22.1
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 13
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 13
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A paternally-inherited deletion disrupting an exon of the SLC24A2 gene was detected in a male ASD proband but not in an affected male sibling; this variant was not observed in controls (Prasad et al., 2012).
Molecular Function
This gene encodes a member of the calcium/cation antiporter superfamily of transport proteins. The encoded protein belongs to the SLC24 branch of exchangers, which can mediate the extrusion of one Ca2+ ion and one K+ ion in exchange for four Na+ ions. This family member is a retinal cone/brain exchanger that can mediate a light-induced decrease in free Ca2+ concentration. This protein may also play a neuroprotective role during ischemic brain injury.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
ASD
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD
Support
Importance of K+dependent Na?exchanger 2, NCKX2, in motor learning and memory.