ATP1B2 ATPase Na+/K+ transporting subunit beta 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ATP1B2provided by HGNC
Official Full Name: ATPase Na+/K+ transporting subunit beta 2provided by HGNC
Primary source: HGNC:HGNC:805
See related: Ensembl:ENSG00000129244 MIM:182331; AllianceGenome:HGNC:805
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AMOG
Summary: 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]
Expression: Biased expression in brain (RPKM 120.9) and ovary (RPKM 11.3) See more
Orthologs: mouse all
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Genomic context

Location:: 17p13.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (7646627..7657770)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (7550794..7561928)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (7549945..7561088)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The beta2-Subunit (AMOG) of Human Na(+), K(+)-ATPase Is a Homophilic Adhesion Molecule.
Title: The β(2)-Subunit (AMOG) of Human Na(+), K(+)-ATPase Is a Homophilic Adhesion Molecule.
AMOG and L1 interdependently regulate their expression levels not only in U-87 MG cells but also in U251 and SHG44 human glioma cell lines. The capacity of AMOG to reduce L1 expression suggests that methods for increasing AMOG expression may provide a therapeutic choice for the management of glial tumors with high expression of L1.
Title: Glioma malignancy is linked to interdependent and inverse AMOG and L1 adhesion molecule expression.
Retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis, membrane association is severely impaired in the absence of ATP1A3 and ATP1B2.
Title: The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
The AMOG expression pattern with altered cellular distribution observed in malformations of cortical development suggests that AMOG might contribute to abnormal cortical development via mTOR activation.
Title: Expression patterns of AMOG in developing human cortex and malformations of cortical development.
analysis of pathways for maturation of the Na,K-ATPase beta1 and beta2 subunits in the endoplasmic reticulum
Title: Diverse pathways for maturation of the Na,K-ATPase β1 and β2 subunits in the endoplasmic reticulum of Madin-Darby canine kidney cells.
The strong expression of AMOG within the precursor cells of gangliogliomas may represent an additional marker for the diagnostic evaluation of these glioneuronal lesions
Title: Pi3K-mTOR signaling and AMOG expression in epilepsy-associated glioneuronal tumors.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
the ER quality control system allows export only of assembled alpha-beta complexes to the Golgi, whereas the number of alpha(1) subunits in the ER determines the amount of the alpha-beta complexes
Title: Assembly with the Na,K-ATPase alpha(1) subunit is required for export of beta(1) and beta(2) subunits from the endoplasmic reticulum.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic susceptibility to distinct bladder cancer subphenotypes.
Common genetic variation in TP53 and its flanking genes (ATP1B2) found no significant overall associations between SNPs in TP53 and breast cancer risk
Title: Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancer.

Submit: New GeneRIF Correction See all GeneRIFs (13)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women. EBI GWAS Catalog EBI GWAS CatalogPubMed
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SGC31498 (e-PCR)
- UniSTS:37431

G15933 (e-PCR)
- UniSTS:18324

RH11458 (e-PCR)
- UniSTS:48365

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables ATPase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables ATPase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein-macromolecule adaptor activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell communication by electrical coupling involved in cardiac conduction	TAS Traceable Author Statement more info	PubMed
involved_in cell-substrate adhesion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in intracellular potassium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular potassium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
involved_in intracellular sodium ion homeostasis	IBA Inferred from Biological aspect of Ancestor more info
involved_in intracellular sodium ion homeostasis	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within lateral ventricle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane repolarization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within motor behavior	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of glial cell migration	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within neuronal-glial interaction involved in hindbrain glial-mediated radial cell migration	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within photoreceptor cell maintenance	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within plasma membrane bounded cell projection organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of ATP-dependent activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of potassium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of potassium ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of sodium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in potassium ion import across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in potassium ion import across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in protein stabilization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within retina homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in sodium ion export across plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion export across plasma membrane	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within third ventricle development	ISS Inferred from Sequence or Structural Similarity more info
involved_in transport across blood-brain barrier	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in apical plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in astrocyte end-foot	ISS Inferred from Sequence or Structural Similarity more info
located_in astrocyte projection	IDA Inferred from Direct Assay more info	PubMed
located_in astrocyte projection	ISS Inferred from Sequence or Structural Similarity more info
located_in cell body membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cell periphery	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cell projection membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in external side of plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lateral plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron to neuron synapse	ISS Inferred from Sequence or Structural Similarity more info
located_in photoreceptor inner segment	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
part_of sodium:potassium-exchanging ATPase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of sodium:potassium-exchanging ATPase complex	IDA Inferred from Direct Assay more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: sodium/potassium-transporting ATPase subunit beta-2

Names: ATPase, Na+/K+ transporting, beta 2 polypeptide; Na, K-ATPase beta-2 polypeptide; adhesion molecule in glia; adhesion molecule on glia; sodium pump subunit beta-2; sodium-potassium ATPase subunit beta 2 (non-catalytic); sodium/potassium-dependent ATPase beta-2 subunit; sodium/potassium-dependent ATPase subunit beta-2; sodium/potassium-transporting ATPase beta-2 chain

NP_001290192.1

EC 3.6.3.9

NP_001669.3

EC 3.6.3.9

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001303263.2 → NP_001290192.1 sodium/potassium-transporting ATPase subunit beta-2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an upstream exon in place of the first two exons and initiates translation at a downstream site compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.

Source sequence(s)

AC007421, AK290143, AL120033, DA199365

UniProtKB/Swiss-Prot

P14415

Conserved Domains (1) summary

cl08255
Location:1 → 207

Na_K-ATPase; Sodium / potassium ATPase beta chain
NM_001678.5 → NP_001669.3 sodium/potassium-transporting ATPase subunit beta-2 isoform 1

See identical proteins and their annotated locations for NP_001669.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC007421, AK290143, AL120033, DA122526

Consensus CDS

CCDS32550.1

UniProtKB/Swiss-Prot

A0AV17, A8K278, D3DTQ2, O60444, P14415

Related

ENSP00000250111.4, ENST00000250111.9

Conserved Domains (1) summary

TIGR01107
Location:2 → 289

Na_K_ATPase_bet; Sodium Potassium ATPase beta subunit