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FHM2
MCID: MGR030
MIFTS: 49

Migraine, Familial Hemiplegic, 2 (FHM2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Migraine, Familial Hemiplegic, 2

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MalaCards integrated aliases for Migraine, Familial Hemiplegic, 2:

Name: Migraine, Familial Hemiplegic, 2 57 72 70
Migraine, Familial Basilar 57 13 6
Fhm2 57 12 72
Mhp2 57 12 72
Familial Hemiplegic Migraine Type 2 29 6
Familial Hemiplegic Migraine 2 12 15
Migraine, Hemiplegic, Familial, Type 2 39
Familial Hemiplegic Migraine-2 12
Familiar Basilar Migraine 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset 6 to 30 years
highly variable frequency and duration of episodes
headaches last hours to days
neurologic signs last hours to days
episodes may be triggered by exercise, emotional stress, head trauma, angiography, lack of sleep, heat
reduced penetrance (approximately 87%)
genetic heterogeneity (see fhm1 )
alternating hemiplegia of childhood is an allelic disorder with an overlapping phenotype


HPO:

31
migraine, familial hemiplegic, 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Migraine, Familial Hemiplegic, 2

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UniProtKB/Swiss-Prot : 72 Migraine, familial hemiplegic, 2: A subtype of migraine with aura associated with hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and speaking.

MalaCards based summary : Migraine, Familial Hemiplegic, 2, also known as migraine, familial basilar, is related to familial or sporadic hemiplegic migraine and sporadic hemiplegic migraine, and has symptoms including fever, hemiparesis and hemiplegia. An important gene associated with Migraine, Familial Hemiplegic, 2 is ATP1A2 (ATPase Na+/K+ Transporting Subunit Alpha 2), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Circadian entrainment. Affiliated tissues include brain and smooth muscle, and related phenotypes are intellectual disability and diplopia

Disease Ontology : 12 A familial hemiplegic migraine that has material basis in heterozygous mutation in ATP1A2 on 1q23.2.

More information from OMIM: 602481 PS141500
Sources

Related Diseases for Migraine, Familial Hemiplegic, 2

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Diseases in the Familial Hemiplegic Migraine family:

Migraine, Familial Hemiplegic, 1 Migraine, Familial Hemiplegic, 2
Migraine, Familial Hemiplegic, 3 Sporadic Hemiplegic Migraine
Familial or Sporadic Hemiplegic Migraine

Diseases related to Migraine, Familial Hemiplegic, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 62)
# Related Disease Score Top Affiliating Genes
1 familial or sporadic hemiplegic migraine 30.9 SCN1A PRRT2 CACNA1A ATP1A2
2 sporadic hemiplegic migraine 30.7 SCN1A CACNA1A ATP1A2
3 encephalopathy 30.4 SLC1A2 SCN1A CACNA1A
4 alternating hemiplegia of childhood 1 30.2 ATP1A3 ATP1A2
5 headache 30.0 SCN1A CACNA1A ATP1A2
6 benign epilepsy with centrotemporal spikes 29.8 SCN1A PRRT2 CACNA1A ATP1A2
7 familial hemiplegic migraine 29.8 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A3
8 seizure disorder 29.8 SCN1A PRRT2 ATP1A3 ATP1A2
9 hemiplegia 29.6 SLC1A3 SCN1A CACNA1A ATP1A3 ATP1A2
10 migraine with or without aura 1 29.6 TSPAN2 SLC1A3 SLC1A2 SCN1A PRRT2 MTDH
11 migraine without aura 29.4 SCN1A KCNK18 CACNA1A ATP1A2 ASTN2
12 migraine with aura 29.4 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A3
13 migraine, familial hemiplegic, 1 29.4 SLC1A3 SCN1A PRRT2 KCNK18 CACNA1A ATP1A2
14 epilepsy 29.4 SLC1A2 SCN1A PRRT2 CACNA1A ATP1A3 ATP1A2
15 migraine, familial hemiplegic, 3 29.1 SLC1A3 SCN1A PRRT2 MTDH KCNK18 CACNA1A
16 alternating hemiplegia of childhood 28.2 SLC1A3 SCN1A PRRT2 CACNA1A ATP1A4 ATP1A3
17 ocular motor apraxia 10.5
18 ataxia and polyneuropathy, adult-onset 10.3
19 atp1a3-related neurologic disorders 10.3
20 episodic ataxia, type 5 10.3 CACNA1A ATP1A2
21 hereditary episodic ataxia 10.3 SLC1A3 CACNA1A
22 hemidystonia 10.3 CACNA1A ATP1A3
23 multifocal dystonia 10.2 CACNA1A ATP1A3
24 spinocerebellar ataxia, autosomal recessive 14 10.2 CACNA1A ATP1A3
25 torticollis 10.2 PRRT2 CACNA1A
26 spasmodic dystonia 10.2 PRRT2 ATP1A3
27 neuronal migration disorders 10.2 SCN1A ATP1A2
28 episodic ataxia, type 6 10.2 SLC1A3 CACNA1A
29 spinocerebellar ataxia 6 10.2 SCN1A CACNA1A ATP1A2
30 episodic ataxia, type 2 10.2 SCN1A CACNA1A ATP1A2
31 neonatal period electroclinical syndrome 10.1 SCN1A PRRT2 CACNA1A
32 obsessive-compulsive disorder 10.1
33 alacrima, achalasia, and mental retardation syndrome 10.1
34 aphasia 10.1
35 viral meningitis 10.1
36 allergic disease 10.1
37 focal epilepsy 10.1
38 pathologic nystagmus 10.1
39 adolescence-adult electroclinical syndrome 10.1 SCN1A CACNA1A
40 dystonia, dopa-responsive 10.1 PRRT2 ATP1A3
41 choreatic disease 10.1 PRRT2 CACNA1A ATP1A3
42 wernicke encephalopathy 10.1 SLC1A3 SLC1A2
43 photosensitive epilepsy 10.1 SCN1A CACNA1A
44 status epilepticus 10.1 SLC1A2 SCN1A CACNA1A
45 leukoencephalopathy, hereditary diffuse, with spheroids 10.1 SLC1A3 SLC1A2 SCN1A
46 movement disease 10.1 PRRT2 CACNA1A ATP1A3
47 infancy electroclinical syndrome 10.0 SCN1A PRRT2 CACNA1A ATP1A2
48 generalized epilepsy with febrile seizures plus 10.0 SCN1A PRRT2 CACNA1A ATP1A2
49 dravet syndrome 10.0 SCN1A PRRT2 CACNA1A ATP1A2
50 epilepsy, idiopathic generalized 10.0 SCN1A PRRT2 CACNA1A ATP1A2

Graphical network of the top 20 diseases related to Migraine, Familial Hemiplegic, 2:



Diseases related to Migraine, Familial Hemiplegic, 2
Sources

Symptoms & Phenotypes for Migraine, Familial Hemiplegic, 2

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Human phenotypes related to Migraine, Familial Hemiplegic, 2:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 diplopia 31 HP:0000651
3 dysarthria 31 HP:0001260
4 dysphasia 31 HP:0002357
5 fever 31 HP:0001945
6 vertigo 31 HP:0002321
7 coma 31 HP:0001259
8 aphasia 31 HP:0002381
9 hemiparesis 31 HP:0001269
10 hemiplegia 31 HP:0002301
11 confusion 31 HP:0001289
12 episodic ataxia 31 HP:0002131
13 drowsiness 31 HP:0002329
14 blurred vision 31 HP:0000622
15 apraxia 31 HP:0002186
16 migraine with aura 31 HP:0002077
17 seizure 31 HP:0001250
18 transient unilateral blurring of vision 31 HP:0001125

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysphasia
migraine
aphasia
hemiparesis
hemiplegia
more
Head And Neck Eyes:
hemianopic blurring of vision

Metabolic Features:
fever

Clinical features from OMIM®:

602481 (Updated 05-Apr-2021)

UMLS symptoms related to Migraine, Familial Hemiplegic, 2:


fever; hemiparesis; hemiplegia

MGI Mouse Phenotypes related to Migraine, Familial Hemiplegic, 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 ATP1A2 ATP1A3 CACNA1A KCNK18 PRRT2 SCN1A
Sources

Drugs & Therapeutics for Migraine, Familial Hemiplegic, 2

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Search Clinical Trials , NIH Clinical Center for Migraine, Familial Hemiplegic, 2

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Genetic Tests for Migraine, Familial Hemiplegic, 2

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Genetic tests related to Migraine, Familial Hemiplegic, 2:

# Genetic test Affiliating Genes
1 Familial Hemiplegic Migraine Type 2 29 ATP1A2
Sources

Anatomical Context for Migraine, Familial Hemiplegic, 2

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MalaCards organs/tissues related to Migraine, Familial Hemiplegic, 2:

40
Brain, Smooth Muscle
Sources

Publications for Migraine, Familial Hemiplegic, 2

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Articles related to Migraine, Familial Hemiplegic, 2:

(show top 50) (show all 91)
# Title Authors PMID Year
1
A G301R Na+/K+ -ATPase mutation causes familial hemiplegic migraine type 2 with cerebellar signs. 6 61 57
15459825 2004
2
Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants. 6 57 61
15159495 2004
3
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. 6 57 61
12539047 2003
4
A missense variant of the ATP1A2 gene is associated with a novel phenotype of progressive sensorineural hearing loss associated with migraine. 6 57
25138102 2015
5
First case of compound heterozygosity in Na,K-ATPase gene ATP1A2 in familial hemiplegic migraine. 57 6
17473835 2007
6
Familial basilar migraine associated with a new mutation in the ATP1A2 gene. 6 57
16344534 2005
7
Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. 6 57
12953268 2003
8
Partial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndrome. 57 6
9579893 1997
9
Inhibition of phosphorylation of na+,k+-ATPase by mutations causing familial hemiplegic migraine. 6 61
22117059 2012
10
Recurrent ATP1A2 mutations in Portuguese families with familial hemiplegic migraine. 61 6
17952365 2007
11
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation. 61 57
16437583 2006
12
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. 6 61
15133718 2004
13
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23. 57 61
12601705 2003
14
Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. 57 61
9403481 1997
15
PRRT2 and hemiplegic migraine: a complex association. 57
24928127 2014
16
De novo mutations in ATP1A2 and CACNA1A are frequent in early-onset sporadic hemiplegic migraine. 57
20837964 2010
17
Calcitonin gene-related peptide does not cause the familial hemiplegic migraine phenotype. 57
18779512 2008
18
Two novel functional mutations in the Na+,K+-ATPase alpha2-subunit ATP1A2 gene in patients with familial hemiplegic migraine and associated neurological phenotypes. 57
18028456 2008
19
Amino acid changes in the amino terminus of the Na,K-adenosine triphosphatase alpha-2 subunit associated to familial and sporadic hemiplegic migraine. 6
17877748 2007
20
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine. 57
18056581 2007
21
Genomewide significant linkage to migrainous headache on chromosome 5q21. 57
16080125 2005
22
Alterations in the alpha2 isoform of Na,K-ATPase associated with familial hemiplegic migraine type 2. 6
16037212 2005
23
Opening of the blood-brain barrier preceding cortical edema in a severe attack of FHM type II. 57
15985592 2005
24
Kinetic alterations due to a missense mutation in the Na,K-ATPase alpha2 subunit cause familial hemiplegic migraine type 2. 6
15308625 2004
25
Recurrent episodes of coma: an unusual phenotype of familial hemiplegic migraine with linkage to chromosome 1. 57
10569214 1999
26
Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2. 61
33711927 2021
27
A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients. 61
33578253 2021
28
Non-canonical glutamate signaling in a genetic model of migraine with aura. 61
33321071 2021
29
Abnormal neurovascular coupling as a cause of excess cerebral vasodilation in familial migraine. 61
31710670 2020
30
Astrocyte dysfunction increases cortical dendritic excitability and promotes cranial pain in familial migraine. 61
32548257 2020
31
Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review. 61
31766058 2020
32
Astrocytes in Atp1a2-deficient heterozygous mice exhibit hyperactivity after induction of cortical spreading depression. 61
32237043 2020
33
Na+/K+-ATPase α isoform deficiency results in distinct spreading depolarization phenotypes. 61
30819023 2020
34
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 61
30690204 2020
35
Differential effect of FHM2 mutation on synaptic plasticity in distinct hippocampal regions. 61
30922082 2019
36
Smooth muscle Ca2+ sensitization causes hypercontractility of middle cerebral arteries in mice bearing the familial hemiplegic migraine type 2 associated mutation. 61
29513112 2019
37
Involvement of the Na+ ,K+ -ATPase isoforms in control of cerebral perfusion. 61
30768809 2019
38
Increased susceptibility to cortical spreading depression and epileptiform activity in a mouse model for FHM2. 61
30446731 2018
39
Multimodal imaging findings during severe attacks of familial hemiplegic migraine type 2. 61
30097147 2018
40
Enhanced susceptibility to cortical spreading depression in two types of Na+,K+-ATPase α2 subunit-deficient mice as a model of familial hemiplegic migraine 2. 61
29041816 2018
41
Defective glutamate and K+ clearance by cortical astrocytes in familial hemiplegic migraine type 2. 61
27354390 2016
42
Genetic insights into migraine and glutamate: a protagonist driving the headache. 61
27423601 2016
43
Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model. 61
26911348 2016
44
Insights into the Pathology of the α2-Na(+)/K(+)-ATPase in Neurological Disorders; Lessons from Animal Models. 61
27199775 2016
45
The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence. 61
27313535 2016
46
Biphasic neurovascular changes in prolonged migraine aura in familial hemiplegic migraine type 2. 61
25411546 2015
47
Biochemical changes in the brain of hemiplegic migraine patients measured with 7 tesla 1H-MRS. 61
24651393 2014
48
Familial hemiplegic migraine treated by sodium valproate and lamotrigine. 61
24443394 2014
49
Biochemical characterization of sporadic/familial hemiplegic migraine mutations. 61
24704353 2014
50
Functional analysis of human Na(+)/K(+)-ATPase familial or sporadic hemiplegic migraine mutations expressed in Xenopus oocytes. 61
24921013 2014
Sources

Variations for Migraine, Familial Hemiplegic, 2

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ClinVar genetic disease variations for Migraine, Familial Hemiplegic, 2:

6 (show top 50) (show all 153)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ATP1A2 NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro) SNV Pathogenic 12917 rs28933398 GRCh37: 1:160105635-160105635
GRCh38: 1:160135845-160135845
2 ATP1A2 NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg) SNV Pathogenic 12918 rs28933399 GRCh37: 1:160106455-160106455
GRCh38: 1:160136665-160136665
3 ATP1A2 NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) SNV Pathogenic 12919 rs28933400 GRCh37: 1:160105300-160105300
GRCh38: 1:160135510-160135510
4 ATP1A2 NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg) SNV Pathogenic 12922 rs121918612 GRCh37: 1:160097494-160097494
GRCh38: 1:160127704-160127704
5 ATP1A2 NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala) SNV Pathogenic 12923 rs121918613 GRCh37: 1:160098457-160098457
GRCh38: 1:160128667-160128667
6 ATP1A2 NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) SNV Pathogenic 12924 rs121918614 GRCh37: 1:160105260-160105260
GRCh38: 1:160135470-160135470
7 ATP1A2 NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) SNV Pathogenic 12927 rs121918617 GRCh37: 1:160097450-160097450
GRCh38: 1:160127660-160127660
8 ATP1A2 NM_000702.4(ATP1A2):c.571G>A (p.Val191Met) SNV Pathogenic 222078 rs869025341 GRCh37: 1:160094161-160094161
GRCh38: 1:160124371-160124371
9 ATP1A2 NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) SNV Pathogenic 585462 rs757310141 GRCh37: 1:160109745-160109745
GRCh38: 1:160139955-160139955
10 ATP1A2 NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) SNV Pathogenic 12925 rs121918615 GRCh37: 1:160109525-160109525
GRCh38: 1:160139735-160139735
11 ATP1A2 NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) SNV Pathogenic 12926 rs121918616 GRCh37: 1:160100073-160100073
GRCh38: 1:160130283-160130283
12 ATP1A2 NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) SNV Pathogenic 12930 rs121918620 GRCh37: 1:160098551-160098551
GRCh38: 1:160128761-160128761
13 ATP1A2 NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) SNV Pathogenic 12920 rs28933401 GRCh37: 1:160105036-160105036
GRCh38: 1:160135246-160135246
14 ATP1A2 NM_000702.4(ATP1A2):c.1888A>C (p.Ile630Leu) SNV Likely pathogenic 996134 GRCh37: 1:160104334-160104334
GRCh38: 1:160134544-160134544
15 ATP1A2 NM_000702.4(ATP1A2):c.2809del (p.Arg937fs) Deletion Likely pathogenic 979069 GRCh37: 1:160106788-160106788
GRCh38: 1:160136998-160136998
16 ATP1A2 NM_000702.4(ATP1A2):c.*1835C>T SNV Uncertain significance 874089 GRCh37: 1:160112947-160112947
GRCh38: 1:160143157-160143157
17 ATP1A2 NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) SNV Uncertain significance 12928 rs121918618 GRCh37: 1:160098797-160098797
GRCh38: 1:160129007-160129007
18 ATP1A2 NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) SNV Uncertain significance 12929 rs121918619 GRCh37: 1:160093018-160093018
GRCh38: 1:160123228-160123228
19 ATP1A2 NM_000702.4(ATP1A2):c.*511C>G SNV Uncertain significance 874861 GRCh37: 1:160111623-160111623
GRCh38: 1:160141833-160141833
20 ATP1A2 NM_000702.4(ATP1A2):c.*535G>C SNV Uncertain significance 875792 GRCh37: 1:160111647-160111647
GRCh38: 1:160141857-160141857
21 ATP1A2 NM_000702.4(ATP1A2):c.*1007G>C SNV Uncertain significance 875846 GRCh37: 1:160112119-160112119
GRCh38: 1:160142329-160142329
22 ATP1A2 NM_000702.4(ATP1A2):c.*1712C>A SNV Uncertain significance 875892 GRCh37: 1:160112824-160112824
GRCh38: 1:160143034-160143034
23 ATP1A2 NM_000702.4(ATP1A2):c.*1737C>T SNV Uncertain significance 875893 GRCh37: 1:160112849-160112849
GRCh38: 1:160143059-160143059
24 ATP1A2 NC_000001.11:g.160115716G>A SNV Uncertain significance 876550 GRCh37: 1:160085506-160085506
GRCh38: 1:160115716-160115716
25 ATP1A2 NM_000702.4(ATP1A2):c.2563+15G>A SNV Uncertain significance 876691 GRCh37: 1:160106175-160106175
GRCh38: 1:160136385-160136385
26 ATP1A2 NM_000702.4(ATP1A2):c.2564-14C>T SNV Uncertain significance 876692 GRCh37: 1:160106346-160106346
GRCh38: 1:160136556-160136556
27 ATP1A2 NM_000702.4(ATP1A2):c.*73G>A SNV Uncertain significance 875749 GRCh37: 1:160111185-160111185
GRCh38: 1:160141395-160141395
28 ATP1A2 NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) SNV Uncertain significance 430293 rs181618883 GRCh37: 1:160097482-160097482
GRCh38: 1:160127692-160127692
29 ATP1A2 NM_000702.4(ATP1A2):c.2438T>A (p.Met813Lys) SNV Uncertain significance 204898 rs796052277 GRCh37: 1:160105782-160105782
GRCh38: 1:160135992-160135992
30 ATP1A2 NM_000702.4(ATP1A2):c.1282C>T (p.Arg428Cys) SNV Uncertain significance 387342 rs779985796 GRCh37: 1:160098835-160098835
GRCh38: 1:160129045-160129045
31 ATP1A2 NM_000702.4(ATP1A2):c.1690C>T (p.Arg564Trp) SNV Uncertain significance 204908 rs762330744 GRCh37: 1:160100250-160100250
GRCh38: 1:160130460-160130460
32 ATP1A2 NM_000702.4(ATP1A2):c.2062G>T (p.Ala688Ser) SNV Uncertain significance 575386 rs200425518 GRCh37: 1:160105032-160105032
GRCh38: 1:160135242-160135242
33 ATP1A2 NM_000702.4(ATP1A2):c.1097G>A (p.Gly366Asp) SNV Uncertain significance 567135 rs1057518514 GRCh37: 1:160098521-160098521
GRCh38: 1:160128731-160128731
34 ATP1A2 NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) SNV Uncertain significance 204869 rs55741021 GRCh37: 1:160098516-160098516
GRCh38: 1:160128726-160128726
35 ATP1A2 NM_000702.4(ATP1A2):c.1930C>T (p.Arg644Trp) SNV Uncertain significance 653622 rs150784486 GRCh37: 1:160104376-160104376
GRCh38: 1:160134586-160134586
36 ATP1A2 NM_000702.4(ATP1A2):c.1461+5G>A SNV Uncertain significance 385392 rs199906945 GRCh37: 1:160099195-160099195
GRCh38: 1:160129405-160129405
37 ATP1A2 NM_000702.4(ATP1A2):c.627T>C (p.Cys209=) SNV Uncertain significance 293129 rs139229302 GRCh37: 1:160094217-160094217
GRCh38: 1:160124427-160124427
38 ATP1A2 NM_000702.4(ATP1A2):c.1146C>T (p.Asn382=) SNV Uncertain significance 698248 rs763041955 GRCh37: 1:160098570-160098570
GRCh38: 1:160128780-160128780
39 ATP1A2 NM_000702.4(ATP1A2):c.1578G>A (p.Pro526=) SNV Uncertain significance 387509 rs376128790 GRCh37: 1:160100008-160100008
GRCh38: 1:160130218-160130218
40 ATP1A2 NM_000702.4(ATP1A2):c.192G>T (p.Gln64His) SNV Uncertain significance 204910 rs796052282 GRCh37: 1:160093017-160093017
GRCh38: 1:160123227-160123227
41 ATP1A2 NM_000702.4(ATP1A2):c.1821C>T (p.Gly607=) SNV Uncertain significance 204892 rs771085157 GRCh37: 1:160100381-160100381
GRCh38: 1:160130591-160130591
42 ATP1A2 NM_000702.4(ATP1A2):c.2770G>A (p.Val924Met) SNV Uncertain significance 390229 rs373276446 GRCh37: 1:160106751-160106751
GRCh38: 1:160136961-160136961
43 ATP1A2 NM_000702.4(ATP1A2):c.45G>A (p.Thr15=) SNV Uncertain significance 873681 GRCh37: 1:160090728-160090728
GRCh38: 1:160120938-160120938
44 ATP1A2 NM_000702.4(ATP1A2):c.481A>G (p.Asn161Asp) SNV Uncertain significance 204904 rs796052279 GRCh37: 1:160093832-160093832
GRCh38: 1:160124042-160124042
45 ATP1A2 NM_000702.4(ATP1A2):c.1531A>T (p.Ile511Phe) SNV Uncertain significance 931282 GRCh37: 1:160099961-160099961
GRCh38: 1:160130171-160130171
46 ATP1A2 NM_000702.4(ATP1A2):c.2138G>T (p.Gly713Val) SNV Uncertain significance 931798 GRCh37: 1:160105246-160105246
GRCh38: 1:160135456-160135456
47 ATP1A2 NM_000702.4(ATP1A2):c.*120A>G SNV Uncertain significance 293138 rs886045419 GRCh37: 1:160111232-160111232
GRCh38: 1:160141442-160141442
48 ATP1A2 NM_000702.4(ATP1A2):c.285C>T (p.Phe95=) SNV Uncertain significance 293125 rs886045415 GRCh37: 1:160093110-160093110
GRCh38: 1:160123320-160123320
49 ATP1A2 NM_000702.4(ATP1A2):c.360G>A (p.Glu120=) SNV Uncertain significance 293127 rs369061211 GRCh37: 1:160093185-160093185
GRCh38: 1:160123395-160123395
50 ATP1A2 NM_000702.4(ATP1A2):c.118-12T>A SNV Uncertain significance 625279 rs1558002572 GRCh37: 1:160090970-160090970
GRCh38: 1:160121180-160121180

UniProtKB/Swiss-Prot genetic disease variations for Migraine, Familial Hemiplegic, 2:

72
# Symbol AA change Variation ID SNP ID
1 ATP1A2 p.Arg689Gln VAR_019935 rs28933401
2 ATP1A2 p.Met731Thr VAR_019936 rs28933400
3 ATP1A2 p.Leu764Pro VAR_019937 rs28933398
4 ATP1A2 p.Trp887Arg VAR_019938 rs28933399
5 ATP1A2 p.Gly715Arg VAR_065685 rs155324577
6 ATP1A2 p.Gly874Ser VAR_069991
7 ATP1A2 p.Arg1007Trp VAR_069992 rs746795369

Sources

Expression for Migraine, Familial Hemiplegic, 2

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Search GEO for disease gene expression data for Migraine, Familial Hemiplegic, 2.
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Pathways for Migraine, Familial Hemiplegic, 2

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Pathways related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 13.15 SLC1A3 SLC1A2 ATP1A4 ATP1A3 ATP1A2 ATP13A1
2
Circadian entrainment 36
Show member pathways
 12.54 SLC1A3 SLC1A2 SCN1A CACNA1A
3
Neuropathic Pain-Signaling in Dorsal Horn Neurons 63
Show member pathways
 12.43 SCN1A ATP1A4 ATP1A3 ATP1A2
4
Ion channel transport 65
Show member pathways
 12.29 ATP1A4 ATP1A3 ATP1A2 ATP13A1
5
Cardiac conduction 65
Show member pathways
 11.83 SCN1A KCNK18 ATP1A4 ATP1A3 ATP1A2 ATP13A1
6
Hepatic ABC Transporters 63
Show member pathways
 11.79 ATP1A4 ATP1A3 ATP1A2
7
Thyroid hormone signaling pathway 36
11.77 ATP1A4 ATP1A3 ATP1A2
8
Bile secretion 36
11.61 ATP1A4 ATP1A3 ATP1A2
9
Cardiac muscle contraction 36
11.57 ATP1A4 ATP1A3 ATP1A2
10
Synaptic vesicle cycle 36
Show member pathways
 11.57 SLC1A3 SLC1A2 CACNA1A ATP1A2
11
Mineral absorption 36
11.35 ATP1A4 ATP1A3 ATP1A2
12
Endocrine and other factor-regulated calcium reabsorption 36
11.27 ATP1A4 ATP1A3 ATP1A2
13
Carbohydrate digestion and absorption 36
11.17 ATP1A4 ATP1A3 ATP1A2
14
Aldosterone-regulated sodium reabsorption 36
11 ATP1A4 ATP1A3 ATP1A2
15
Pathogenesis of ALS 63
10.96 SLC1A3 SLC1A2
16
Proximal tubule bicarbonate reclamation 36
10.49 ATP1A4 ATP1A3 ATP1A2
17
Neurotransmitter uptake and Metabolism In Glial Cells 65
Show member pathways
 10.34 SLC1A3 SLC1A2
Sources

GO Terms for Migraine, Familial Hemiplegic, 2

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Cellular components related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.13 TSPAN2 SLC1A3 SLC1A2 SCN1A PRRT2 KCNK18
2 membrane GO:0016020 10.13 TSPAN2 SLC1A3 SLC1A2 SCN1A PRRT2 MTDH
3 synapse GO:0045202 9.77 SLC1A3 PRRT2 CACNA1A ATP1A3 ATP1A2
4 integral component of membrane GO:0016021 9.77 TSPAN2 SLC1A3 SLC1A2 SCN1A PRRT2 MTDH
5 axon GO:0030424 9.71 SLC1A2 SCN1A PRRT2 ATP1A3
6 neuronal cell body GO:0043025 9.65 SLC1A3 SCN1A CACNA1A ATP1A3 ATP1A2
7 presynapse GO:0098793 9.63 SLC1A2 PRRT2 CACNA1A
8 membrane protein complex GO:0098796 9.16 SLC1A3 SLC1A2
9 sodium:potassium-exchanging ATPase complex GO:0005890 8.8 ATP1A4 ATP1A3 ATP1A2

Biological processes related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.79 ATP1A4 ATP1A3 ATP1A2
2 sodium ion transmembrane transport GO:0035725 9.77 SCN1A ATP1A4 ATP1A2
3 potassium ion transport GO:0006813 9.76 KCNK18 ATP1A4 ATP1A3 ATP1A2
4 sodium ion transport GO:0006814 9.73 SCN1A ATP1A4 ATP1A3 ATP1A2
5 cation transmembrane transport GO:0098655 9.71 SCN1A CACNA1A ATP1A2
6 regulation of cardiac conduction GO:1903779 9.7 ATP1A4 ATP1A3 ATP1A2
7 potassium ion import across plasma membrane GO:1990573 9.65 ATP1A4 ATP1A3 ATP1A2
8 potassium ion transmembrane transport GO:0071805 9.65 SLC1A3 KCNK18 ATP1A4 ATP1A3 ATP1A2
9 ion transmembrane transport GO:0034220 9.63 SCN1A CACNA1A ATP1A4 ATP1A3 ATP1A2 ATP13A1
10 glutamate secretion GO:0014047 9.62 SLC1A3 SLC1A2
11 response to light stimulus GO:0009416 9.62 SLC1A3 SLC1A2
12 L-glutamate transmembrane transport GO:0015813 9.61 SLC1A3 SLC1A2
13 cell communication by electrical coupling involved in cardiac conduction GO:0086064 9.6 ATP1A3 ATP1A2
14 cellular response to steroid hormone stimulus GO:0071383 9.58 ATP1A3 ATP1A2
15 neuromuscular process controlling posture GO:0050884 9.58 SCN1A PRRT2
16 sodium ion export across plasma membrane GO:0036376 9.58 ATP1A4 ATP1A3 ATP1A2
17 neurotransmitter uptake GO:0001504 9.57 SLC1A3 ATP1A2
18 transepithelial transport GO:0070633 9.56 SLC1A3 SLC1A2
19 ion transport GO:0006811 9.56 SLC1A3 SLC1A2 SCN1A KCNK18 CACNA1A ATP1A4
20 L-glutamate import across plasma membrane GO:0098712 9.55 SLC1A3 SLC1A2
21 cellular potassium ion homeostasis GO:0030007 9.54 ATP1A4 ATP1A3 ATP1A2
22 D-aspartate import across plasma membrane GO:0070779 9.51 SLC1A3 SLC1A2
23 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.5 ATP1A4 ATP1A3 ATP1A2
24 response to glycoside GO:1903416 9.49 ATP1A3 ATP1A2
25 cellular sodium ion homeostasis GO:0006883 8.92 SLC1A3 ATP1A4 ATP1A3 ATP1A2

Molecular functions related to Migraine, Familial Hemiplegic, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation-transporting ATPase activity GO:0019829 9.4 ATP1A4 ATP1A2
2 L-glutamate transmembrane transporter activity GO:0005313 9.37 SLC1A3 SLC1A2
3 steroid hormone binding GO:1990239 9.32 ATP1A3 ATP1A2
4 high-affinity glutamate transmembrane transporter activity GO:0005314 9.26 SLC1A3 SLC1A2
5 glutamate:sodium symporter activity GO:0015501 9.16 SLC1A3 SLC1A2
6 sodium:potassium-exchanging ATPase activity GO:0005391 9.13 ATP1A4 ATP1A3 ATP1A2
7 potassium-transporting ATPase activity GO:0008556 8.8 ATP1A4 ATP1A3 ATP1A2
Sources

Sources for Migraine, Familial Hemiplegic, 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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