FHM2

Chr 1AD

ATPase Na+/K+ transporting subunit alpha 2

Also known as: DEE98, FARIMPD, FHM2, MHP2

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008]

Primary Disease Associations & Inheritance

Migraine, familial basilarMIM #602481
AD
Migraine, familial hemiplegic, 2MIM #602481
AD
0
Active trials
0
Pathogenic / LP
0
ClinVar variants
5
Pubs (1 yr)
Missense Z
LOEUF
Clinical SummaryFHM2
📖
GeneReview available — FHM2
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/FHM2?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

FHM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Gene2Phenotype Curations

ATP1A2-related epileptic encephalopathy

moderate
ADGain Of FunctionAltered Gene Product Structure
Dev. Disorders
G2P ↗
splice region variantmissense variant

ATP1A2-related neuronal migration disorder with epilepsy

strong
ARUndeterminedAbsent Gene Product
Dev. Disorders
G2P ↗
stop gained NMD triggeringframeshift variant NMD triggering

ATP1A2-related migraine, familial hemiplegic

definitive
ADLoss Of FunctionAbsent Gene Product
Dev. Disorders
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Familial hemiplegic migraine.
Villar-Martinez MD et al.·Handb Clin Neurol
2024Review
Pathophysiology of migraine aura.
Sanchez Del Rio M et al.·Handb Clin Neurol
2023Review
Top 5 results · since 2015Search PubMed ↗