PRKAB2 protein kinase AMP-activated non-catalytic subunit beta 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PRKAB2provided by HGNC
Official Full Name: protein kinase AMP-activated non-catalytic subunit beta 2provided by HGNC
Primary source: HGNC:HGNC:9379
See related: Ensembl:ENSG00000131791 MIM:602741; AllianceGenome:HGNC:9379
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
Summary: The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma subunits. AMPK is an important energy-sensing enzyme that monitors cellular energy status. In response to cellular metabolic stresses, AMPK is activated, and thus phosphorylates and inactivates acetyl-CoA carboxylase (ACC) and beta-hydroxy beta-methylglutaryl-CoA reductase (HMGCR), key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This subunit may be a positive regulator of AMPK activity. It is highly expressed in skeletal muscle and thus may have tissue-specific roles. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
Expression: Ubiquitous expression in duodenum (RPKM 16.7), liver (RPKM 11.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q21.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (147155106..147172470, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (147635939..147653299)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (146626685..146644049, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

AMPKbeta1 and AMPKbeta2 define an isoform-specific gene signature in human pluripotent stem cells, differentially mediating cardiac lineage specification.
Title: AMPKβ1 and AMPKβ2 define an isoform-specific gene signature in human pluripotent stem cells, differentially mediating cardiac lineage specification.
these data indicate that increased expression of AMPKbeta2 is an important feature of efficient adipogenesis.
Title: AMP-activated protein kinase complexes containing the β2 regulatory subunit are up-regulated during and contribute to adipogenesis.
AMP-activated protein kinase can be modulated by diverse ligands and by phosphorylation.
Title: Conformational heterogeneity of the allosteric drug and metabolite (ADaM) site in AMP-activated protein kinase (AMPK).
Sleep disturbances are one of the most common problems affecting individuals with psychiatric disorders. We show that AMPK is required for maintenance of proper sleep architecture and for sleep recovery following sleep deprivation. Neuronal AMPKbeta loss specifically leads to sleep fragmentation and causes dysregulation of genes believed to play a role in sleep homeostasis.
Title: AMPK signaling linked to the schizophrenia-associated 1q21.1 deletion is required for neuronal and sleep maintenance.
Sumoylation of AMPKbeta2 subunit enhances AMP-activated protein kinase activity.
Title: Sumoylation of AMPKβ2 subunit enhances AMP-activated protein kinase activity.
Data indicate that except AMPK-alpha1, expressions of the other five AMPK subunits -alpha2, -beta1, -beta2, -gamma1 and -gamma2 are significantly higher in ovarian carcinomas.
Title: Over-expressions of AMPK subunits in ovarian carcinomas with significant clinical implications.
Studies suggest insights into the regulation of AMPK, its diverse biological actions, and therapeutic potential in the heart.
Title: AMP-activated protein kinase regulation and biological actions in the heart.
results of this study demonistrated that the novel findings that intronic SNPs in the genes coding for the regulatory beta2(PRKAB2) of AMPK are associated with antipsychotic-induced weight gain in schizophrenia or schizoaffective disorder patients
Title: Association study between variants of AMP-activated protein kinase catalytic and regulatory subunit genes with antipsychotic-induced weight gain.
These results suggest that the modification introduced by the laforin-malin complex could affect the subcellular distribution of AMPK beta subunits.
Title: The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Knockdown of SIRT1 by its inhibitor or siRNA results in Tat-mediated reduction of phosphorylation of AMP-activated protein kinase (AMPK) and downstream acetyl-CoA carboxylase (ACC)	PubMed
Vif	vif	Protein kinase A (PKA) binds and phosphorylates A3G at Thr32 in vitro and in vivo. This phosphorylation event reduces the binding of A3G to Vif and its subsequent ubiquitination and degradation	PubMed
Vpr	vpr	HIV-1 Vpr directly interacts with PKA and is phosphorylated at position Ser79 by PKA. PKA activity is necessary for virion-delivered Vpr cell cycle arrest	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S3545 (e-PCR)
- UniSTS:81744

PRKAB2_2222 (e-PCR)
- UniSTS:280924

RH64681 (e-PCR)
- UniSTS:16548

A006T33 (e-PCR)
- UniSTS:29618

RH66499 (e-PCR)
- UniSTS:19397

WI-22653 (e-PCR)
- UniSTS:69835

G16292 (e-PCR)
- UniSTS:51199

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to AMP-activated protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in cellular response to nutrient levels	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to nutrient levels	NAS Non-traceable Author Statement more info	PubMed
involved_in fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of nucleotide-activated protein kinase complex	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleotide-activated protein kinase complex	IDA Inferred from Direct Assay more info	PubMed
part_of nucleotide-activated protein kinase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of nucleotide-activated protein kinase complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: 5'-AMP-activated protein kinase subunit beta-2

Names: 5'-AMP-activated protein kinase, beta-2 subunit; AMP-activated protein kinase beta 2 non-catalytic subunit; AMPK beta 2; AMPK beta-2 chain; AMPK subunit beta-2; protein kinase, AMP-activated, beta 2 non-catalytic subunit

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_005399.5 → NP_005390.1 5'-AMP-activated protein kinase subunit beta-2

See identical proteins and their annotated locations for NP_005390.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes a functional protein.

Source sequence(s)

AC241584, BC053610, CA311731

Consensus CDS

CCDS925.1

UniProtKB/Swiss-Prot

A8K9V5, B4DH06, O43741, Q5VXY0

UniProtKB/TrEMBL

X5D2S2

Related

ENSP00000254101.3, ENST00000254101.4

Conserved Domains (2) summary

smart01010
Location:183 → 272

AMPKBI; 5'-AMP-activated protein kinase beta subunit, interation domain

pfam16561
Location:77 → 159

AMPK1_CBM; Glycogen recognition site of AMP-activated protein kinase

RNA

NR_103870.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks two internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC241584, AK316183, BC053610, CA311731
NR_103871.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC241584, AK294863, CA311731

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

147155106..147172470 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047424544.1 → XP_047280500.1 5'-AMP-activated protein kinase subunit beta-2 isoform X3
XM_011509729.3 → XP_011508031.1 5'-AMP-activated protein kinase subunit beta-2 isoform X2

UniProtKB/TrEMBL

X5D2S2

Conserved Domains (2) summary

smart01010
Location:183 → 247

AMPKBI; 5'-AMP-activated protein kinase beta subunit, interation domain

pfam16561
Location:78 → 161

AMPK1_CBM; Glycogen recognition site of AMP-activated protein kinase
XM_047424538.1 → XP_047280494.1 5'-AMP-activated protein kinase subunit beta-2 isoform X1

UniProtKB/Swiss-Prot

A8K9V5, B4DH06, O43741, Q5VXY0
XM_047424539.1 → XP_047280495.1 5'-AMP-activated protein kinase subunit beta-2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

147635939..147653299

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054337543.1 → XP_054193518.1 5'-AMP-activated protein kinase subunit beta-2 isoform X4

UniProtKB/TrEMBL

X5D2Z8
XM_054337544.1 → XP_054193519.1 5'-AMP-activated protein kinase subunit beta-2 isoform X5