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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATP1A2 Gene

protein-coding GIFtS: 71
GCID: GC01P160085

ATPase, Na+/K+ transporting, alpha 2 polypeptide

(Previous names: migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha...)
(Previous symbol: MHP2)

Explore 48 diseases affiliated with
ATP1A2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
ATPase, Na+/K+ Transporting, Alpha 2 Polypeptide¹ ²		Na+/K+ ATPase, Alpha-A(+) Catalytic Polypeptide²
FHM2¹ ² ⁵		Na+/K+ ATPase, Alpha-B Polypeptide²
MHP2¹ ² ⁵		Sodium-Potassium ATPase Catalytic Subunit Alpha-2²
Sodium Pump Subunit Alpha-2² ³		Sodium/Potassium-Transporting ATPase Alpha-2 Chain²
Na(+)/K(+) ATPase Alpha-2 Subunit² ³		Sodium/Potassium-Transporting ATPase Subunit Alpha-2²
EC 3.6.3.9³ ⁸		KIAA0778³
ATPase, Na+/K+ Transporting, Alpha 2 (+) Polypeptide¹		EC 3.6.3⁸
Migraine, Hemiplegic 2¹

External Ids:	HGNC: 800¹	Entrez Gene: 477²	Ensembl: ENSG00000018625⁷	OMIM: 182340⁵	UniProtKB: P50993³

Export aliases for ATP1A2 gene to outside databases

Previous GC identifers: GC01P157877 GC01P155817 GC01P156863 GC01P157302 GC01P156883 GC01P158353 GC01P131442

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP1A2:

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)

UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993

Function: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the

exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of

sodium and potassium, providing the energy for active transport of various nutrients

summary for ATP1A2:

Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients

across the plasma membrane.

Gene Wiki entry for ATP1A2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATP1A2 gene promoter:
GR E2F-3a E2F-4 E2F-5 HTF E2F-2 E2F E2F-1 Chx10 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATP1A2 promoter sequence

Search SABiosciences Chromatin IP Primers for ATP1A2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP1A2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.2 Ensembl cytogenetic band: 1q23.2 HGNC cytogenetic band: 1q23.2

ATP1A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP1A2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P160085: view genomic region (about GC identifiers)

Start:	160,085,520 bp from pter	End:	160,113,381 bp from pter
Size:	27,862 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993 (See protein sequence)

Recommended Name: Sodium/potassium-transporting ATPase subunit alpha-2 precursor

Size: 1020 amino acids; 112265 Da

Subunit: Composed of three subunits: alpha (catalytic), beta and gamma

Subcellular location: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein

Sequence caution: Sequence=BAA34498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: D3DVE4 Q07059 Q5JW74 Q86UZ5 Q9UQ25

Explore the universe of human proteins at neXtProt for ATP1A2: NX_P50993

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P50993

4/101 DME Specific Peptides for ATP1A2 (P50993) (see all 101)

AVETLGS

SSLTGES

DDHKLSL

PADLRII

ATP1A2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000693.1

ENSEMBL proteins:

ENSP00000354490 ENSP00000376066 ENSP00000411705

Reactome Protein details: P50993
Human Recombinant Protein Products for ATP1A2:

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	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005737	cytoplasm	IDA	12539047
GO:0005768	endosome	IEA	--
GO:0005792	microsome	--	--
GO:0005886	plasma membrane	TAS	--

ATP1A2 for ontologies About GeneDecksing

ATP1A2 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ATP1A2
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	ThermoFisher Antibody for ATP1A2

Assay Products for ATP1A2:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ATP1A2
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATP1A2 for domains About GeneDecksing

5/10 InterPro domains/families (see all 10):

IPR023298 ATPase_P-typ_TM_dom

IPR023306 ATPase_cation_domN

IPR005775 ATPase_P-typ_Na/K

IPR023299 ATPase_P-typ_cyto_domN

IPR008250 ATPase_P-typ_transduc_dom_A

Graphical View of Domain Structure for InterPro Entry P50993

ProtoNet protein and cluster: P50993

4 Blocks protein families:

IPB001757 ATPase

IPB006068 Cation transporting ATPase

IPB006069 Sodium/potassium-transporting ATPase signature

IPB008250 E1-E2 ATPase-associated region

UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993

Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: AT1A2_HUMAN, P50993

Function: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the

exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of

sodium and potassium, providing the energy for active transport of various nutrients

Catalytic activity: ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In)

Genatlas biochemistry entry for ATP1A2:

ATPase,Na+K+,alpha 2 polypeptide

Enzyme Numbers (IUBMB): EC 3.6.3.9¹ ² EC 3.6.3²

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005391	sodium:potassium-exchanging ATPase activity	IMP	12539047
GO:0005515	protein binding	--	--
GO:0005524	ATP binding	IEA	--
GO:0015077	monovalent inorganic cation transmembrane transporter activity	--	--
GO:0015662	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	--	--

ATP1A2 for ontologies About GeneDecksing

Phenotypes:
7 GenomeRNAi human phenotypes for ATP1A2:

Decreased influenza A H1N1 (A/	Decreased influenza A/WSN/33 r	G0/1 arrest	Increased G1 DNA content
Increased cell size	Increased gamma-H2AX phosphory	Synthetic lethal with Ras

10 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Atp1a2):

behavior/neurological	cardiovascular system	embryogenesis	homeostasis/metabolism	integument
mortality/aging	muscle	nervous system	normal	respiratory system

ATP1A2 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for ATP1A2: Atp1a2^tm2Kwk Atp1a2^tm1Kwk Atp1a2^tm2Ling

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ATP1A2

miRNA Products:		miRTarBase miRNAs that target ATP1A2: hsa-mir-122 (MIRT003095)

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		8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP1A2 (see all 55):
		hsa-miR-596 hsa-miR-106a hsa-miR-301a hsa-miR-371-5p hsa-miR-449a hsa-miR-550a* hsa-miR-4267 hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: ATP1A2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ATP1A2
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATP1A2 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATP1A2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1A2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/16 super-pathways (see all 16) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ion channel transport

Ion channel transport

1.00

Ion transport by P-type ATPases

0.32

Gastric acid secretion

Gastric acid secretion

1.00

Salivary secretion

0.35

Sodium-coupled transporters and pumps

Sodium-coupled transporters and pumps

1.00

Synaptic Vesicle Pathway

Synaptic Vesicle Pathway

1.00

Hepatic ABC Transporters

Hepatic ABC Transporters

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ATP1A2

Sodium-coupled transporters and pumps

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP1A2

	Hepatic ABC Transporters
	Aldosterone Signaling in Epithelial Cells

1 BioSystems Pathway for ATP1A2

Synaptic Vesicle Pathway

3 Reactome Pathways for ATP1A2

	Transmembrane transport of small molecules
	Ion channel transport
	Ion transport by P-type ATPases

5/11 Kegg Pathways (Kegg details for ATP1A2) (see all 11):

	Cardiac muscle contraction
	Aldosterone-regulated sodium reabsorption
	Endocrine and other factor-regulated calcium reabsorption
	Proximal tubule bicarbonate reclamation
	Salivary secretion

ATP1A2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ATP1A2

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/34 Interacting proteins for ATP1A2 (P50993³ ENSP00000354490⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 34)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TPT1	P13693³, ENSP00000368350⁴	I2D: score=1 STRING: ENSP00000368350
GABARAP	O95166³	I2D: score=2
ATG10	Q9H0Y0³	I2D: score=1
ATG12	O94817³	I2D: score=1
ATG16L1	Q676U5³	I2D: score=1

About this table

Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001504	neurotransmitter uptake	IEA	--
GO:0002026	regulation of the force of heart contraction	IEA	--
GO:0002087	regulation of respiratory gaseous exchange by neurological system process	IEA	--
GO:0006754	ATP biosynthetic process	IEA	--
GO:0006813	potassium ion transport	NAS	10642400

ATP1A2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATP1A2 for compounds About GeneDecksing

EMD Millipore small molecules for ATP1A2:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Compounds for ATP1A2 available from Tocris Bioscience About this table

Compound	Action	CAS #
Ouabain	Na+,K+-ATPase inhibitor	[630-60-4]
Digoxin	Na+,K+-ATPase inhibitor	[20830-75-5]

7 HMDB Compounds for ATP1A2 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Magnesium	Magnesium (see all 2)	7439-95-4	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Potassium	K+ (see all 16)	7440-09-7	--
Sodium	Sodium (see all 2)	7440-23-5	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

8 Novoseek chemical compound relationships for ATP1A2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ouabain	51.5	2	19406178 (1), 10555956 (1)
sodium	47.2	14	1702984 (1), 1665097 (1), 8320840 (1), 11247557 (1) (see all 10)
potassium	29.7	4	9333591 (2), 15549578 (1), 11224699 (1)
calcium	28.5	12	14624354 (1), 15549578 (1), 15346975 (1), 16571116 (1) (see all 9)
magnesium	3.97	2	9333591 (2)
glucose	0	1	9233427 (1)
fatty acid	0	1	9519564 (1)
glutamate	0	1	16116111 (1)

Search CenterWatch for drugs/clinical trials and news about ATP1A2 / AT1A2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATP1A2 gene:

NM_000702.3

Unigene Cluster for ATP1A2:

ATPase, Na+/K+ transporting, alpha 2 polypeptide

Hs.34114 [show with all ESTs]

Unigene Representative Sequence: NM_000702

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000472488(uc010piz.1 uc009wtg.1 uc001fvb.2) ENST00000478587

ENST00000361216(uc001fvc.3 uc001fvd.3) ENST00000392233 ENST00000468587

ENST00000447527 ENST00000463989 ENST00000459972

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		8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP1A2 (see all 55):
		hsa-miR-596 hsa-miR-106a hsa-miR-301a hsa-miR-371-5p hsa-miR-449a hsa-miR-550a* hsa-miR-4267 hsa-miR-93

		SwitchGear 3'UTR luciferase reporter plasmid: ATP1A2 3' UTR sequence

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Additional cDNA sequence:

AB018321.2 AK091617.1 AK126573.1 AK295048.1 AK295729.1 AK299460.1 AK308773.1 AK314296.1

AL831991.1 AL831997.1 AY946014.1 BC013680.1 BC047533.1 BC052271.1 M16795.1

21 DOTS entries:

DT.100819279 DT.100031180 DT.455727 DT.121366670 DT.95167097 DT.121366722 DT.121366736 DT.121366726

DT.121366663 DT.75190013 DT.40123776 DT.100819280 DT.100819281 DT.121366669 DT.121366721 DT.40277262

DT.91662921 DT.91899854 DT.121366660 DT.75121601 DT.95145184

24/219 AceView cDNA sequences (see all 219):

AI291381 CA391645 N71189 AI937102 F08479 CA396394 BU553035 N21985

H87972 AI367523 CA394819 NM_000702 N63144 AA425300 BX456435 BG059603

BQ638487 AA084483 CK003380 F07411 AK091617 CA395837 AI341416 F03554

GeneLoc Exon Structure

5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A2 (see all 11) About this scheme

ExUns:	1a	·	1b	^	2	^	3	^	4	^	5a	·	5b	·	5c	^	6a	·	6b	^	7a	·	7b	·	7c	^	8	^	9	^	10a	·	10b	^	11a	·	11b	^	12	^	13a	·	13b	·	13c	^	14a	·	14b	^	15a	·
SP1:											-						-												-		-		-								-
SP2:											-						-												-		-		-								-
SP3:
SP4:																																									-
SP5:							-		-		-		-				-

ExUns:	15b	^	16	^	17	^	18a	·	18b	·	18c	^	19a	·	19b	^	20	^	21	^	22a	·	22b	·	22c	^	23a	·	23b	^	24	^	25a	·	25b	^	26	^	27a	·	27b	·	27c
SP1:													-																-								-
SP2:													-
SP3:													-								-								-
SP4:
SP5:

ECgene alternative splicing isoforms for ATP1A2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATP1A2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGCTAATTAT

About this image

ATP1A2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Kidney

Body Subcutaneous White Adipose

Adipose

Visceral White Adipose

Adipose

Eye

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ progenitor EN7 (Embryonic Progenitor Cell)

Line H9 (WA09) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

HyStem+BMP4-induced 7SMOO32 cells (HyStem+BMP4 inductio...)

Adipose

See ATP1A2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATP1A2

SOURCE GeneReport for Unigene cluster: Hs.34114

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ATP1A2 gene from 6/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ATP1A2¹	ATPase, Na+/K+ transporting, alpha 2 polypeptide	83.48(n) 93.99(a)		396468 NM_205476.1 NP_990807.1
lizard (Anolis carolinensis)	Reptilia	ATP1A2⁶	--	91(a)	1 ↔ 1	GL344724.1(1098-20783)
African clawed frog (Xenopus laevis)	Amphibia	MGC68460²	hypothetical protein MGC68460	80.32(n)		BC060332.1
zebrafish (Danio rerio)	Actinopterygii	atp1a2a¹	ATPase, Na+/K+ transporting, alpha 2a polypeptide	76.6(n) 86.43(a)		64609 NM_131683.1 NP_571758.1
fruit fly (Drosophila melanogaster)	Insecta	Atpalpha³	cation transport sodium/potassium-exchanging ATPase	76(a) (best of 3)		93B2 --
worm (Caenorhabditis elegans)	Secernentea	eat-6³	Na(+)/K(+) ATPase alpha subunit	72(a) (best of 3)		V(13129245-13132586) --

ENSEMBL Gene Tree for ATP1A2 (if available)
TreeFam Gene Tree for ATP1A2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ATP1A2 gene

ATP2C1² ATP2A3² ATP2C2² ATP1A4² ATP2A1² ATP4A² ATP1A3² ATP2A2²

ATP12A² ATP1A1²

9 SIMAP similar genes for ATP1A2 using alignment to 4 protein entries: AT1A2_HUMAN (see all proteins):

ATP1A3 ATP1A1 ATP1A4 ATP12A DKFZp666G172 ATP4A

ATP2A2 ATP2C1 ATP2C2

ATP1A2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs28933400^1,2	C	pathogenic	134070486(+)	`TGCCAT/CGGGCA`	2	/T /M	mis¹		2		NA	4
rs28933401^1,2	C	pathogenic	134070750(+)	`TGCTCG/AAACGT`	2	/Q /R	mis¹ ese³		2		NA	4
rs121918619^1,2	C,F	pathogenic	134082769(+)	`ACCAGC/TGGGCT`	2	R W	mis¹		1		NA	4550
rs12753323^1,2		--	131441184(+)	`TGGGGC/G/TCAGAG`	1	--	us2k¹ tfbs³		0	--	--	--	--
rs6676016^1,2	C,F,H	--	131441562(+)	`AAAGAT/AACCCT`	1	--	us2k¹		8		NS EA WA NA CSA	540
rs2753264^1,2	C,H	--	131441605(+)	`GGGATT/GGCTCC`	1	--	us2k¹		4		NS EA	416
rs74123251^1,2	C	--	131441906(+)	`GTAAAC/TGAGGG`	1	--	us2k¹		2		WA	120
rs80187761^1,2	C,F	--	131442155(+)	`CCTTCG/AGTTCA`	1	--	us2k¹		1		WA	118
rs75025236^1,2		--	131442350(+)	`TTAGGA/CCACAT`	1	--	us2k¹		0	--	--	--	--
rs28372830^1,2	F	--	131442591(+)	`CTGTTT/CCAACA`	1	--	us2k¹		3		MN EA	1372

HapMap Linkage Disequilibrium report for ATP1A2 (160085520 - 160113381 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATP1A2: --
Human Gene Mutation Database (HGMD): ATP1A2

Locus Specific Mutation Databases (LSDB): ATP1A2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ATP1A2 for disorders           About GeneDecksing

OMIM gene information: 182340
OMIM disorders: 602481  104290
UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993

Defects in ATP1A2 are the cause of familial hemiplegic migraine type 2 (FHM2) [MIM:602481]. FHM2 is a rare,

severe, autosomal dominant subtype of migraine characterized by aura and some hemiparesis

Defects in ATP1A2 are a cause of alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]. AHC is typically

distinguished from familial hemiplegic migraine by infantile onset of the symptoms and high prevalence of associated

neurological deficits that become increasingly obvious with age

20/48 diseases for ATP1A2 (see all 48): About MalaCards

migraine hemiplegic migraine alternating hemiplegia of childhood hemiplegia

skull base meningioma migraine, familial basilar thyrotoxic periodic paralysis basilar migraine

familial hemiplegic migraine temporal lobe epilepsy idiopathic generalized epilepsy generalized epilepsy

type 2 diabetes mellitus episodic ataxia acquired immunodeficiency syndrome paralysis

diabetes mellitus migraine with aura intracranial hypertension herpes simplex

3 diseases from the University of Copenhagen DISEASES database for ATP1A2:

Migraine Hemiplegia Benign familial infantile epilepsy

10 Novoseek disease relationships for ATP1A2 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hemiplegic migraine familial	97.4	30	12539047 (2), 18498390 (2), 15133718 (2), 14624354 (1) (see all 23)
migraine hemiplegic	94.1	16	14624354 (2), 18513263 (2), 16116111 (2), 18644608 (2) (see all 10)
migraine	81.6	16	18028407 (3), 15210532 (2), 14624354 (1), 18483709 (1) (see all 8)
common migraine	77.6	1	16157018 (1)
basilar migraine	71.9	1	16344534 (1)
periodic paralysis	58.3	1	9793040 (1)
epilepsy	43.6	10	18028407 (4), 18644608 (2), 18498390 (1), 15907261 (1)
mental retardation	39.3	1	16437583 (1)
hypokalemia	21.3	1	16608889 (1)
ischemia	0	1	19822191 (1)

GeneTests: ATP1A2

Familial Hemiplegic Migraine

Genetic Association Database (GAD): ATP1A2
Human Genome Epidemiology (HuGE) Navigator: ATP1A2 (12 documents)

Export disorders for ATP1A2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ATP1A2 gene, integrated from 9 sources (see all 183):
(articles sorted by number of sources associating them with ATP1A2)

Utopia: connect your pdf to the dynamic
world of online information

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. (PubMed id 12953268)^{1, 2, 4} Vanmolkot K.R.J.... van den Maagdenberg A.M.J.M. (2003)
Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. (PubMed id 12539047)^{1, 2, 9} De Fusco M.... Casari G. (2003)
Relation of alleles of the sodium-potassium adenosine triphosphatase alpha 2 gene with blood pressure and lead exposure. (PubMed id 11257061)^{1, 4, 9} Glenn B.S....Bressler J. (2001)
Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. (PubMed id 9403481)^{1, 3, 9} Ducros A....Tournier-Lasserve E. (1997)
No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy. (PubMed id 15911117)^{1, 4} Lohoff F.W....Buono R.J. (2005)
Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. (PubMed id 15174025)^{1, 2} Swoboda K.J.... Youroukos S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)^{1, 2} Nagase T.... Ohara O. (1998)
Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms. (PubMed id 2477373)^{1, 2} Shull M.M.... Lingrel J.B. (1989)
Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene. (PubMed id 2537767)^{1, 2} Sverdlov E.D....Modyanov N.N. (1989)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 477	HGNC: 800	AceView: ATP1A2	Ensembl:ENSG00000018625	euGenes: HUgn477
ECgene: ATP1A2	Kegg: 477	H-InvDB: ATP1A2

(According to HUGE)
About This Section

HUGE: KIAA0778

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ATP1A2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP1A2

Intellectual Property for ATP1A2 gene
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Patent Information for ATP1A2 gene:
Search GeneIP for patents involving ATP1A2

Licensable Technologies for ATP1A2 gene:

Weizmann Institute:

"Na, K-ATPase Isoforms and Selective Inhibitors Thereof"

GeneCards and IP:
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ATP1A2 Gene

ATPase, Na+/K+ transporting, alpha 2 polypeptide

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ATP1A2 Gene

ATPase, Na+/K+ transporting, alpha 2 polypeptide

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