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ATP1A2

Alias

FHM2; MHP2

Associated disorders

The ATP1A2 gene is associated with autosomal dominant familial hemiplegic migraine (FHM) (MedGen UID: 355962) and alternating hemiplegia of childhood 1 (AHC) (MedGen UID: 762361). Additionally, the ATP1A2 gene has preliminary evidence supporting a correlation with autosomal dominant early infantile epileptic encephalopathy (EIEE) (PMID: 27864847).

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ATP1A2

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Invitae tests that include this gene:

Pathogenic variants in the ATP1A2 gene are associated with ~7% of clinical cases of familial hemiplegic migraine.

Na+/K+-ATPases actively move sodium ions (Na+) out of the cell and potassium ions (K+) into the cell, creating an electrochemical gradient. The ATP1A2 gene encodes an alpha 2 subunit of the Na+/K+ ATPase that is expressed in brain and muscle tissues (PMID: 23954377).

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence in the transcript listed below. In addition, analysis covers the select non-coding variants specifically defined in the table below. Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ATP1A2 NM_000702.3