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: |
|
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
Importance of K+dependent Na?exchanger 2, NCKX2, in motor learning and memory.
Support
Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder.
ASD