Human Gene ATP1B2 (ENST00000250111.9_3) from GENCODE V45lift37
  Description: Homo sapiens ATPase Na+/K+ transporting subunit beta 2 (ATP1B2), transcript variant 1, mRNA. (from RefSeq NM_001678)
RefSeq Summary (NM_001678): 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].
Gencode Transcript: ENST00000250111.9_3
Gencode Gene: ENSG00000129244.9_7
Transcript (Including UTRs)
   Position: hg19 chr17:7,554,244-7,561,088 Size: 6,845 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr17:7,554,837-7,559,213 Size: 4,377 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
GO AnnotationsmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2024-04-24 11:59:55

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:7,554,244-7,561,088)mRNA (may differ from genome)Protein (290 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCMalacardsMGIOMIMPubMed
ReactomeUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: AT1B2_HUMAN
DESCRIPTION: RecName: Full=Sodium/potassium-transporting ATPase subunit beta-2; AltName: Full=Adhesion molecule in glia; Short=AMOG; AltName: Full=Sodium/potassium-dependent ATPase subunit beta-2;
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.
FUNCTION: Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth.
SUBUNIT: The sodium/potassium-transporting ATPase is composed of a catalytic alpha subunit, an auxiliary non-catalytic beta subunit and an additional regulatory subunit. Interacts with isoform 2 of BSG (By similarity).
SUBCELLULAR LOCATION: Cell membrane; Single-pass type II membrane protein.
DOMAIN: The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties.
SIMILARITY: Belongs to the X(+)/potassium ATPases subunit beta family.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATP1B2
CDC HuGE Published Literature: ATP1B2
Positive Disease Associations: Pancreatic Neoplasms
Related Studies:
  1. Pancreatic Neoplasms
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP1B2
Diseases sorted by gene-association score: thyrotoxic periodic paralysis (2), hemiplegic migraine (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 219.05 RPKM in Brain - Cerebellum
Total median expression: 1851.80 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -237.80593-0.401 Picture PostScript Text
3' UTR -519.401875-0.277 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000402 - Na/K_ATPase_sub_beta
IPR038702 - Na/K_ATPase_sub_beta_sf

Pfam Domains:
PF00287 - Sodium / potassium ATPase beta chain

ModBase Predicted Comparative 3D Structure on P14415
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0001671 ATPase activator activity
GO:0005391 sodium:potassium-exchanging ATPase activity
GO:0005515 protein binding
GO:0051117 ATPase binding

Biological Process:
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006814 sodium ion transport
GO:0006883 cellular sodium ion homeostasis
GO:0007155 cell adhesion
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient
GO:0030007 cellular potassium ion homeostasis
GO:0032781 positive regulation of ATPase activity
GO:0034220 ion transmembrane transport
GO:0036376 sodium ion export from cell
GO:0050821 protein stabilization
GO:0050900 leukocyte migration
GO:0086009 membrane repolarization
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
GO:1901018 positive regulation of potassium ion transmembrane transporter activity
GO:1903278 positive regulation of sodium ion export from cell
GO:1903288 positive regulation of potassium ion import
GO:1903779 regulation of cardiac conduction
GO:1990573 potassium ion import across plasma membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005890 sodium:potassium-exchanging ATPase complex
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016324 apical plasma membrane


-  Descriptions from all associated GenBank mRNAs
  LF212401 - JP 2014500723-A/19904: Polycomb-Associated Non-Coding RNAs.
LF209136 - JP 2014500723-A/16639: Polycomb-Associated Non-Coding RNAs.
M81181 - Human sodium/potassium ATPase beta-2 subunit (atpb2) mRNA, complete cds.
AK290143 - Homo sapiens cDNA FLJ75609 complete cds, highly similar to Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2), mRNA.
BC126175 - Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide, mRNA (cDNA clone MGC:161453 IMAGE:8991891), complete cds.
LF326362 - JP 2014500723-A/133865: Polycomb-Associated Non-Coding RNAs.
LF326361 - JP 2014500723-A/133864: Polycomb-Associated Non-Coding RNAs.
U45945 - Human Na,K-ATPase beta 2 subunit (ATP1B2) mRNA, complete cds.
HQ258155 - Synthetic construct Homo sapiens clone IMAGE:100072464 ATPase, Na+/K+ transporting, beta 2 polypeptide (ATP1B2) gene, encodes complete protein.
KJ890729 - Synthetic construct Homo sapiens clone ccsbBroadEn_00123 ATP1B2 gene, encodes complete protein.
JD450059 - Sequence 431083 from Patent EP1572962.
AY946017 - Homo sapiens Na+/K+ transporting ATPase beta 2 polypeptide (ATP1B2) mRNA, partial cds.
JD351418 - Sequence 332442 from Patent EP1572962.
JD297999 - Sequence 279023 from Patent EP1572962.
LF326358 - JP 2014500723-A/133861: Polycomb-Associated Non-Coding RNAs.
JD515709 - Sequence 496733 from Patent EP1572962.
JD211928 - Sequence 192952 from Patent EP1572962.
JD266321 - Sequence 247345 from Patent EP1572962.
JD270357 - Sequence 251381 from Patent EP1572962.
JD057063 - Sequence 38087 from Patent EP1572962.
JD525034 - Sequence 506058 from Patent EP1572962.
JD338240 - Sequence 319264 from Patent EP1572962.
JD056450 - Sequence 37474 from Patent EP1572962.
JD448688 - Sequence 429712 from Patent EP1572962.
JD098738 - Sequence 79762 from Patent EP1572962.
JD483423 - Sequence 464447 from Patent EP1572962.
JD078846 - Sequence 59870 from Patent EP1572962.
JD358000 - Sequence 339024 from Patent EP1572962.
JD046059 - Sequence 27083 from Patent EP1572962.
BC035801 - Homo sapiens ATPase, Na+/K+ transporting, beta 2 polypeptide, mRNA (cDNA clone IMAGE:5733940), with apparent retained intron.
JD352517 - Sequence 333541 from Patent EP1572962.
JD524738 - Sequence 505762 from Patent EP1572962.
JD514469 - Sequence 495493 from Patent EP1572962.
JD371317 - Sequence 352341 from Patent EP1572962.
JD337651 - Sequence 318675 from Patent EP1572962.
JD337652 - Sequence 318676 from Patent EP1572962.
JD463168 - Sequence 444192 from Patent EP1572962.
JD463169 - Sequence 444193 from Patent EP1572962.
JD095792 - Sequence 76816 from Patent EP1572962.
JD326564 - Sequence 307588 from Patent EP1572962.
JD384785 - Sequence 365809 from Patent EP1572962.
JD384787 - Sequence 365811 from Patent EP1572962.
JD384786 - Sequence 365810 from Patent EP1572962.
JD489119 - Sequence 470143 from Patent EP1572962.
JD242831 - Sequence 223855 from Patent EP1572962.
JD345448 - Sequence 326472 from Patent EP1572962.
JD176240 - Sequence 157264 from Patent EP1572962.
JD368987 - Sequence 350011 from Patent EP1572962.
JD489767 - Sequence 470791 from Patent EP1572962.
D87330 - Homo sapiens adult mRNA for Na/K ATPase beta 2 subunit, 3'UTR.
JD566506 - Sequence 547530 from Patent EP1572962.
JD046855 - Sequence 27879 from Patent EP1572962.
LF326353 - JP 2014500723-A/133856: Polycomb-Associated Non-Coding RNAs.
JD565656 - Sequence 546680 from Patent EP1572962.
JD190900 - Sequence 171924 from Patent EP1572962.
LF326352 - JP 2014500723-A/133855: Polycomb-Associated Non-Coding RNAs.
JD132933 - Sequence 113957 from Patent EP1572962.
LF326350 - JP 2014500723-A/133853: Polycomb-Associated Non-Coding RNAs.
LF326349 - JP 2014500723-A/133852: Polycomb-Associated Non-Coding RNAs.
MA561939 - JP 2018138019-A/133865: Polycomb-Associated Non-Coding RNAs.
MA561938 - JP 2018138019-A/133864: Polycomb-Associated Non-Coding RNAs.
MA561935 - JP 2018138019-A/133861: Polycomb-Associated Non-Coding RNAs.
MA561930 - JP 2018138019-A/133856: Polycomb-Associated Non-Coding RNAs.
MA561929 - JP 2018138019-A/133855: Polycomb-Associated Non-Coding RNAs.
MA561927 - JP 2018138019-A/133853: Polycomb-Associated Non-Coding RNAs.
MA561926 - JP 2018138019-A/133852: Polycomb-Associated Non-Coding RNAs.
MA447978 - JP 2018138019-A/19904: Polycomb-Associated Non-Coding RNAs.
MA444713 - JP 2018138019-A/16639: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P14415 (Reactome details) participates in the following event(s):

R-HSA-375133 Basigin binds Mannose-carrying cell recognition molecules
R-HSA-936897 ATP1A:ATP1B:FXYD exchanges Na+ for K+
R-HSA-210991 Basigin interactions
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-5578775 Ion homeostasis
R-HSA-109582 Hemostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: A0AV17, A8K278, AT1B2_HUMAN, D3DTQ2, ENST00000250111.1, ENST00000250111.2, ENST00000250111.3, ENST00000250111.4, ENST00000250111.5, ENST00000250111.6, ENST00000250111.7, ENST00000250111.8, NM_001678, O60444, P14415, uc317fax.1
UCSC ID: ENST00000250111.9_3
RefSeq Accession: NM_001678
Protein: P14415 (aka AT1B2_HUMAN or ATNC_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.