The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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... See more...

Aliases for ATP1B2 Gene

Aliases for ATP1B2 Gene

  • ATPase Na+/K+ Transporting Subunit Beta 2 2 3 5
  • Sodium/Potassium-Transporting ATPase Subunit Beta-2 2 3 4
  • AMOG 2 3 4
  • Sodium-Potassium ATPase Subunit Beta 2 (Non-Catalytic) 2 3
  • Sodium/Potassium-Dependent ATPase Subunit Beta-2 3 4
  • ATPase, Na+/K+ Transporting, Beta 2 Polypeptide 2 3
  • Sodium Pump Subunit Beta-2 2 3
  • Adhesion Molecule In Glia 3 4
  • Sodium/Potassium-Transporting ATPase Beta-2 Chain 3
  • Sodium/Potassium-Dependent ATPase Beta-2 Subunit 3
  • Na, K-ATPase Beta-2 Polypeptide 3
  • Adhesion Molecule On Glia 3
  • ATP1B2 5

External Ids for ATP1B2 Gene

Previous GeneCards Identifiers for ATP1B2 Gene

  • GC17M008057
  • GC17P008294
  • GC17P007497
  • GC17P007755
  • GC17P007754
  • GC17P007494
  • GC17P007554
  • GC17P007448
  • GC17P007557
  • GC17P007567
  • GC17P007574
  • GC17P007650
  • GC17P007808
  • GC17P007845
  • GC17P007875
  • GC17P007948
  • GC17P007659
  • GC17P007694
  • GC17P007736
  • GC17P007765
  • GC17P007786

Summaries for ATP1B2 Gene

Entrez Gene Summary for ATP1B2 Gene

  • The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]

GeneCards Summary for ATP1B2 Gene

ATP1B2 (ATPase Na+/K+ Transporting Subunit Beta 2) is a Protein Coding gene. Diseases associated with ATP1B2 include Familial Hemiplegic Migraine and Retinoschisis 1, X-Linked, Juvenile. Among its related pathways are Collagen chain trimerization and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include ATPase binding and sodium:potassium-exchanging ATPase activity. An important paralog of this gene is ATP1B3.

UniProtKB/Swiss-Prot Summary for ATP1B2 Gene

  • This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known.
  • Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth.

Tocris Summary for ATP1B2 Gene

  • The Na+/K+ ATPase is a membrane protein that is composed of two subunits - alpha and beta. The pump maintains an essential electrochemical gradient within cells through the active transport of sodium (Na+) and potassium (K+) ions.

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP1B2 Gene

Genomics for ATP1B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP1B2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP1B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP1B2

Top Transcription factor binding sites by QIAGEN in the ATP1B2 gene promoter:
  • AREB6
  • MyoD
  • NF-1
  • POU3F2
  • PPAR-gamma1
  • PPAR-gamma2
  • RREB-1
  • YY1

Genomic Locations for ATP1B2 Gene

Genomic Locations for ATP1B2 Gene
chr17:7,646,627-7,657,771
(GRCh38/hg38)
Size:
11,145 bases
Orientation:
Plus strand
chr17:7,549,945-7,561,089
(GRCh37/hg19)
Size:
11,145 bases
Orientation:
Plus strand

Genomic View for ATP1B2 Gene

Genes around ATP1B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP1B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP1B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP1B2 Gene

Proteins for ATP1B2 Gene

  • Protein details for ATP1B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P14415-AT1B2_HUMAN
    Recommended name:
    Sodium/potassium-transporting ATPase subunit beta-2
    Protein Accession:
    P14415
    Secondary Accessions:
    • A0AV17
    • A8K278
    • D3DTQ2
    • O60444

    Protein attributes for ATP1B2 Gene

    Size:
    290 amino acids
    Molecular mass:
    33367 Da
    Quaternary structure:
    • The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit.

neXtProt entry for ATP1B2 Gene

Post-translational modifications for ATP1B2 Gene

  • Glycosylation at Asn96, Asn118, Asn153, Asn159, Asn193, Asn197, and Asn238
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • AT1B2_HUMAN (1758)

Other Protein References for ATP1B2 Gene

Protein Products

  • Signalway Proteins for ATP1B2

No data available for DME Specific Peptides for ATP1B2 Gene

Domains & Families for ATP1B2 Gene

Gene Families for ATP1B2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATP1B2 Gene

InterPro:
Blocks:
  • Na+/K+ ATPase, beta subunit
ProtoNet:

Suggested Antigen Peptide Sequences for ATP1B2 Gene

GenScript: Design optimal peptide antigens:
  • Sodium/potassium-dependent ATPase subunit beta-2 (AT1B2_HUMAN)
  • Na+/K+ transporting ATPase beta 2 polypeptide (Q58I19_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P14415

UniProtKB/Swiss-Prot:

AT1B2_HUMAN :
  • The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties.
  • Belongs to the X(+)/potassium ATPases subunit beta family.
Domain:
  • The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties.
Family:
  • Belongs to the X(+)/potassium ATPases subunit beta family.
genes like me logo Genes that share domains with ATP1B2: view

Function for ATP1B2 Gene

Molecular function for ATP1B2 Gene

UniProtKB/Swiss-Prot Function:
This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is not known.
UniProtKB/Swiss-Prot Function:
Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth.
GENATLAS Biochemistry:
ATPase,Na+K+ beta 2 polypeptide,putative adhesion molecule on glia,specific

Phenotypes From GWAS Catalog for ATP1B2 Gene

Gene Ontology (GO) - Molecular Function for ATP1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity IBA,IDA 10636900
GO:0005391 contributes_to sodium:potassium-exchanging ATPase activity IBA,IDA 10636900
GO:0005515 protein binding IPI 11027149
GO:0046982 protein heterodimerization activity ISS --
GO:0051117 ATPase binding IPI 10636900
genes like me logo Genes that share ontologies with ATP1B2: view
genes like me logo Genes that share phenotypes with ATP1B2: view

Animal Models for ATP1B2 Gene

MGI Knock Outs for ATP1B2:

Animal Model Products

CRISPR Products

miRNA for ATP1B2 Gene

miRTarBase miRNAs that target ATP1B2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1B2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP1B2 Gene

Localization for ATP1B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP1B2 Gene

Cell membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP1B2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 0

Gene Ontology (GO) - Cellular Components for ATP1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001917 photoreceptor inner segment IEA,ISS --
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005890 sodium:potassium-exchanging ATPase complex IEA,ISS --
genes like me logo Genes that share ontologies with ATP1B2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP1B2 Gene

Pathways & Interactions for ATP1B2 Gene

genes like me logo Genes that share pathways with ATP1B2: view

Pathways by source for ATP1B2 Gene

2 Qiagen pathways for ATP1B2 Gene
  • Aldosterone Signaling in Epithelial Cells
  • Hepatic ABC Transporters

Gene Ontology (GO) - Biological Process for ATP1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IEA,ISS --
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0006883 cellular sodium ion homeostasis IBA,IDA 10636900
genes like me logo Genes that share ontologies with ATP1B2: view

No data available for SIGNOR curated interactions for ATP1B2 Gene

Drugs & Compounds for ATP1B2 Gene

(9) Drugs for ATP1B2 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Rubidium Rb-82 Approved, Investigational Pharma Carrier, substrate 0
Magnesium Approved, Experimental, Investigational Pharma 0
Potassium Approved, Experimental Pharma 0
Water Approved Pharma 0
Digoxin Approved Pharma Na+/K+ ATPase inhibitor 179

(3) Additional Compounds for ATP1B2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
sodium
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5

(4) Tocris Compounds for ATP1B2 Gene

Compound Action Cas Number
Digoxin Na+/K+ ATPase inhibitor 20830-75-5
Lithium carbonate Mood stabilizer; inhibits Na+/K+ ATPase pump activity 554-13-2
Ouabain Na+/K+ ATPase inhibitor 630-60-4
Rostafuroxin Na+/K+ ATPase modulator; antihypertensive agent 156722-18-8
genes like me logo Genes that share compounds with ATP1B2: view

Transcripts for ATP1B2 Gene

mRNA/cDNA for ATP1B2 Gene

2 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP1B2

Alternative Splicing Database (ASD) splice patterns (SP) for ATP1B2 Gene

No ASD Table

Relevant External Links for ATP1B2 Gene

GeneLoc Exon Structure for
ATP1B2

Expression for ATP1B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP1B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP1B2 Gene

This gene is overexpressed in Brain - Caudate (basal ganglia) (x5.2), Brain - Cerebellum (x5.1), Brain - Nucleus accumbens (basal ganglia) (x4.9), Brain - Putamen (basal ganglia) (x4.8), Brain - Amygdala (x4.5), and Brain - Cerebellar Hemisphere (x4.3).

Protein differential expression in normal tissues from HIPED for ATP1B2 Gene

This gene is overexpressed in Retina (31.6), Frontal cortex (14.4), and Spinal cord (13.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP1B2 Gene



Protein tissue co-expression partners for ATP1B2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP1B2

SOURCE GeneReport for Unigene cluster for ATP1B2 Gene:

Hs.643540

Evidence on tissue expression from TISSUES for ATP1B2 Gene

  • Nervous system(5)
  • Eye(4.6)
  • Liver(4.2)
  • Kidney(2.4)
  • Blood(2)
genes like me logo Genes that share expression patterns with ATP1B2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP1B2 Gene

Orthologs for ATP1B2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATP1B2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP1B2 30 31
  • 99.66 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP1B2 30 31
  • 94.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP1B2 30 31
  • 93.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp1b2 30
  • 91.03 (n)
Mouse
(Mus musculus)
Mammalia Atp1b2 30 17 31
  • 90.92 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP1B2 31
  • 87 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ATP1B2 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp1b2 30
  • 64 (n)
MGC75733 30
African clawed frog
(Xenopus laevis)
Amphibia atp1b2-prov 30
Zebrafish
(Danio rerio)
Actinopterygii atp1b2b 30 31
  • 64.08 (n)
OneToMany
atp1b2a 31
  • 57 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta nrv1 30 31
  • 47.99 (n)
ManyToMany
nrv3 31
  • 26 (a)
ManyToMany
nrv2 31
  • 23 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007790 30
  • 45.4 (n)
Worm
(Caenorhabditis elegans)
Secernentea nkb-3 31
  • 25 (a)
ManyToMany
nkb-1 31
  • 24 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10387 31
  • 29 (a)
OneToMany
Species where no ortholog for ATP1B2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP1B2 Gene

ENSEMBL:
Gene Tree for ATP1B2 (if available)
TreeFam:
Gene Tree for ATP1B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP1B2: view image

Paralogs for ATP1B2 Gene

Paralogs for ATP1B2 Gene

(4) SIMAP similar genes for ATP1B2 Gene using alignment to 4 proteins:

  • AT1B2_HUMAN
  • I3L1V9_HUMAN
  • I3L3J8_HUMAN
  • Q58I19_HUMAN
genes like me logo Genes that share paralogs with ATP1B2: view

Variants for ATP1B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP1B2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs2227866 - p.Thr199Ala
rs34745087 - p.Gln124Leu

Additional dbSNP identifiers (rs#s) for ATP1B2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP1B2 Gene

Variant ID Type Subtype PubMed ID
nsv457659 CNV loss 19166990
nsv574322 CNV loss 21841781

Variation tolerance for ATP1B2 Gene

Residual Variation Intolerance Score: 17.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.99; 36.71% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP1B2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP1B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP1B2 Gene

Disorders for ATP1B2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for ATP1B2 Gene - From: DISEASES and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATP1B2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ATP1B2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATP1B2 Gene

Publications for ATP1B2 Gene

  1. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PMID: 16430714) Kung AW … Chan V (Clinical endocrinology 2006) 3 23 41
  2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PMID: 19692168) Guey LT … EPICURO/Spanish Bladder Cancer Study investigators (European urology 2010) 3 41
  3. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PMID: 19170196) Shen M … Lan Q (Environmental and molecular mutagenesis 2009) 3 41
  4. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PMID: 19625176) Hosgood HD … Lan Q (Respiratory medicine 2009) 3 41
  5. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PMID: 18676680) Hosgood HD … Lan Q (Carcinogenesis 2008) 3 41

Products for ATP1B2 Gene

  • Signalway Proteins for ATP1B2

Sources for ATP1B2 Gene