PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit [Homo sapiens (human)] - Gene

Summary

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Official Symbol: PRKAG2provided by HGNC
Official Full Name: protein kinase, AMP-activated, gamma 2 non-catalytic subunitprovided by HGNC
Primary source: HGNC:9386
See related: Ensembl:ENSG00000106617; HPRD:04119; MIM:602743; Vega:OTTHUMG00000157324
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: AAKG; CMH6; WPWS; AAKG2; H91620p
Summary: AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four cystathionine beta-synthase domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff-Parkinson-White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Genomic context

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Location :: 7q36.1

Sequence :: Chromosome: 7; NC_000007.13 (151253200..151574316, complement)

See PRKAG2 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

Single nucleotide polymorphisms in PRKAG2 is associated with drug response in breast cancer.
Title: Germline variation in TP53 regulatory network genes associates with breast cancer survival and treatment outcome.
The authors found that the gene encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) strongly correlated with Zaire Ebolavirus transduction in the tumor cell panel.
Title: AMP-activated protein kinase is required for the macropinocytic internalization of ebolavirus.
found a significant association between the -26C/T polymorphism and cognitive impairment. Moreover, this polymorphism was also related to the presence of diabetes.
Title: AMPK γ2 subunit gene PRKAG2 polymorphism associated with cognitive impairment as well as diabetes in old age.
The mutation in the PRKAG2 gene was identified as responsible for the familial form of WPW syndrome in this Chinese family.
Title: High risk of sudden death associated with a PRKAG2-related familial Wolff-Parkinson-White syndrome.
These two individuals may be considered to suffer from a combination of both a classical hypertrophic cardiomyopathy (due to the two mutations in MYBPC3) and a glycogen storage cardiomyopathy (due to the mutation in PRKAG2).
Title: A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes.
no mutations were detected within the coding region of PRKAG2 in Wolff-Parkinson-White syndrome patients
Title: Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.
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.
Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: New loci associated with kidney function and chronic kidney disease.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Newly identified polymorphisms (amino acid substitutions) are likely associated with cardiac disease in type 2 diabetic patients.
Title: Identification of two novel variants in PRKAG2 gene in Tunisian type 2 diabetic patients with family history of cardiovascular disease.

Submit: New GeneRIF Correction See all (35)

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

Familial hypertrophic cardiomyopathy 6

MIM: 600858

Genetic Testing Registry

Summary from GeneReviews: Familial Hypertrophic Cardiomyopathy Overview

Hypertrophic cardiomyopathy (HCM), caused by mutation in one of the genes currently known to encode different components of the sarcomere, is characterized by left ventricular hypertrophy (LVH) in the absence of predisposing cardiac conditions (e.g., aortic stenosis) or cardiovascular conditions (e.g., long-standing hypertension). The clinical manifestations of HCM range from asymptomatic to progressive heart failure to sudden cardiac death and vary from individual to individual even within the same family. Common symptoms include shortness of breath (particularly with exertion), chest pain, palpitations, orthostasis, presyncope, and syncope. Most often the LVH of HCM becomes apparent during adolescence or young adulthood, although it may also develop late in life, in infancy, or in childhood.

Diagnosis Testing

The diagnosis of HCM is most often established when two-dimensional echocardiography detects LVH in a nondilated ventricle; it can also be established by pathognomonic histopathologic findings in cardiac tissue. Familial HCM without multisystem involvement is diagnosed by family history and molecular genetic testing of any of the 14 genes currently known to encode different components of the sarcomere for which testing is clinically available.

Genetic Counseling

Familial HCM caused by mutation in one of the genes currently known to encode different components of the sarcomere is inherited in an autosomal dominant manner. Formal genetic counseling can be used to identify those family members of a proband who are at increased risk for HCM.

NHGRI GWAS Catalog

Genome-wide association analysis of age at onset and psychotic symptoms in bipolar disorder.

Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

New loci associated with kidney function and chronic kidney disease.

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Tat, p14	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
	tat	HIV-1 Tat induces IL-6 and TNF-alpha expression through the activation of cAMP-dependent protein kinase pathways	PubMed
Vpr, p15	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
matrix	gag	HIV-1 Matrix impairs proliferation of normal lymphocytes in vitro by inducing the activity of the inhibitory protein kinase A (PKA)	PubMed
	gag	Protein kinase A (PKA) has been shown to phosphorylate HIV-1 Matrix in vitro	PubMed

Go to the HIV-1, Human Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9UGJ0	Q9Y478	PRKAB1	HPRD	PubMed
Q9UGJ0	O43741	PRKAB2	HPRD	PubMed
Q9UGJ0	P54619	PRKAG1	HPRD	PubMed
BioGRID:119531	BioGRID:106932	ASNS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:114210	EIF3A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:108309	ELAVL1	BioGRID	PubMed	Affinity Capture-RNA
BioGRID:119531	BioGRID:108578	FKBP4	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:116802	GANAB	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:114360	GMPS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:109315	HDAC1	BioGRID	PubMed	Negative Genetic
BioGRID:119531	BioGRID:110303	MAP1A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:110304	MAP1B	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:124137	MAP1LC3A	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:111221	PFAS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:111251	PGK1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:111549	PRKAA1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:111550	PRKAA2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:111551	PRKAB1	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:119531	BioGRID:111552	PRKAB2	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:119531	BioGRID:111558	PRKAG1	BioGRID	PubMed	Affinity Capture-MS; Two-hybrid
BioGRID:119531	BioGRID:112760	TARS	BioGRID	PubMed	Affinity Capture-MS
BioGRID:119531	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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AMPK inhibits chREBP transcriptional activation activity, organism-specific biosystem (from REACTOME)
AMPK inhibits chREBP transcriptional activation activity, organism-specific biosystemAMP-activated protein kinase (AMPK) is a sensor of cellular energy levels. A high cellular ratio of AMP:ATP triggers the phosphorylation and activation of AMPK. Activated AMPK in turn phosphorylates ...
AMPK signaling, organism-specific biosystem (from WikiPathways)
AMPK signaling, organism-specific biosystemAMPK signaling pathway, a fuel sensor and regulator, promotes ATP-producing and inhibits ATP-consuming pathways in various tissues. AMPK is a heterotrimer composed of alpha-catalytic and beta and gam...
Adipocytokine signaling pathway, organism-specific biosystem (from KEGG)
Adipocytokine signaling pathway, organism-specific biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
Adipocytokine signaling pathway, conserved biosystem (from KEGG)
Adipocytokine signaling pathway, conserved biosystemIncreased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. Leptin is an important regulator of energy intake and...
Circadian rhythm, organism-specific biosystem (from KEGG)
Circadian rhythm, organism-specific biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
Circadian rhythm, conserved biosystem (from KEGG)
Circadian rhythm, conserved biosystemCircadian rhythm is an internal biological clock, which enables to sustain an approximately 24-hour rhythm in the absence of environmental cues. In mammals, the circadian clock mechanism consists of ...
Energy Metabolism, organism-specific biosystem (from WikiPathways)
Energy Metabolism, organism-specific biosystemThe PPARGC1A protein is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with the nuclear receptor PPARG, which permits the interaction of ...
Energy dependent regulation of mTOR by LKB1-AMPK, organism-specific biosystem (from REACTOME)
Energy dependent regulation of mTOR by LKB1-AMPK, organism-specific biosystemUpon formation of a trimeric LKB1:STRAD:MO25 complex, LKB1 phosphorylates and activates AMPK. If the AMP:ATP ratio rises, this activation is maintained and AMPK activates the TSC complex by phosphory...
Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystem (from REACTOME)
Fatty acid, triacylglycerol, and ketone body metabolism, organism-specific biosystemThe reactions involved in the metabolism of fatty acids and of the triacylglycerols and ketone bodies derived from them form a closely interrelated, coordinately regulated module that plays a central...
Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
IGF1R signaling cascade, organism-specific biosystem (from REACTOME)
IGF1R signaling cascade, organism-specific biosystemAfter autophosphorylation the type 1 insulin-like growth factor receptor (IGF1R) binds and phosphorylates scaffold proteins, IRS1/2/4 and SHC1, which in turn bind effectors possessing enzymatic activ...
IRS-mediated signalling, organism-specific biosystem (from REACTOME)
IRS-mediated signalling, organism-specific biosystemRelease of phospho-IRS from the insulin receptor triggers a cascade of signalling events via PI3K, SOS, RAF and the MAP kinases.
IRS-related events, organism-specific biosystem (from REACTOME)
IRS-related events, organism-specific biosystemIRS is one of the mediators of insulin signalling events. It is activated by phosphorylation and triggers a cascade of events involving PI3K, SOS, RAF and the MAP kinases. The proteins mentioned unde...
IRS-related events triggered by IGF1R, organism-specific biosystem (from REACTOME)
IRS-related events triggered by IGF1R, organism-specific biosystemThe phosphorylated type 1 insulin-like growth factor receptor phosphorylates IR1, IRS2, IRS4 and possibly other IRS/DOK family members (reviewed in Pavelic et al. 2007, Chitnis et al. 2008, Maki et a...
Import of palmitoyl-CoA into the mitochondrial matrix, organism-specific biosystem (from REACTOME)
Import of palmitoyl-CoA into the mitochondrial matrix, organism-specific biosystemThe mitochondrial carnitine system catalyzes the transport of long-chain fatty acids into the mitochondrial matrix where they undergo beta oxidation. This transport system consists of the malonyl-Co...
Insulin receptor signalling cascade, organism-specific biosystem (from REACTOME)
Insulin receptor signalling cascade, organism-specific biosystemAutophosphorylation of the insulin receptor triggers a series of signalling events, mediated by SHC or IRS, and resulting in activation of the Ras/RAF and MAP kinase cascades. A second effect of the ...
Insulin signaling pathway, organism-specific biosystem (from KEGG)
Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Insulin signaling pathway, conserved biosystem (from KEGG)
Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
Integration of energy metabolism, organism-specific biosystem (from REACTOME)
Integration of energy metabolism, organism-specific biosystemMany hormones that affect individual physiological processes including the regulation of appetite, absorption, transport, and oxidation of foodstuffs influence energy metabolism pathways. While insul...
Membrane Trafficking, organism-specific biosystem (from REACTOME)
Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
PI3K Cascade, organism-specific biosystem (from REACTOME)
PI3K Cascade, organism-specific biosystem
PI3K Cascade
PKB-mediated events, organism-specific biosystem (from REACTOME)
PKB-mediated events, organism-specific biosystemPKB and PDK1 are activated via membrane-bound PIP3. Activated PDK1 phosphorylates PKB, which in turn phosphorylates PDE3B. The latter hydrolyses cAMP to 5'AMP, depleting cAMP pools.
Regulation of AMPK activity via LKB1, organism-specific biosystem (from REACTOME)
Regulation of AMPK activity via LKB1, organism-specific biosystemLKB1 forms a complex with STRAD and MO25 thereby attaining a higher activity towards its substrates belonging to the subfamily of AMPK like kinases. LKB1:STRAD:MO25 complex phosphorylates AMPK consta...
Regulation of Rheb GTPase activity by AMPK, organism-specific biosystem (from REACTOME)
Regulation of Rheb GTPase activity by AMPK, organism-specific biosystemActivated AMPK phosphorylates TSC2 and activates the TSC complex. TSC2 functions as a GTPase-activating protein and stimulates the intrinsic GTPase activity of a small G-protein Rheb. This results in...
Signal Transduction, organism-specific biosystem (from REACTOME)
Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
Signaling by Insulin receptor, organism-specific biosystem (from REACTOME)
Signaling by Insulin receptor, organism-specific biosystemInsulin binding to its receptor results in receptor autophosphorylation on tyrosine residues and the tyrosine phosphorylation of insulin receptor substrates (e.g. IRS and Shc) by the insulin receptor...
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystem (from REACTOME)
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R), organism-specific biosystemBinding of IGF1 (IGF-I) or IGF2 (IGF-II) to the extracellular alpha peptides of the type 1 insulin-like growth factor receptor (IGF1R) triggers the activation of two major signaling pathways: the SOS...
TOR signaling, organism-specific biosystem (from WikiPathways)
TOR signaling, organism-specific biosystemTOR signaling is responsible for a cellular reaction towards nutrient and energy availability and hypoxia/stress. The mammalian Target Of Rapamycin (mTOR), a serine/threonine kinase, is the central r...
Translocation of GLUT4 to the Plasma Membrane, organism-specific biosystem (from REACTOME)
Translocation of GLUT4 to the Plasma Membrane, organism-specific biosystemIn adipocytes and myocytes insulin signaling causes intracellular vesicles carrying the GLUT4 glucose transporter to translocate to the plasma membrane, allowing the cells to take up glucose from the...
mTOR signalling, organism-specific biosystem (from REACTOME)
mTOR signalling, organism-specific biosystem
mTOR signalling

General gene information

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Markers

GDB:1318398 (e-PCR)
- UniSTS:79371

RH79622 (e-PCR)
- UniSTS:85540

D7S1854 (e-PCR)
- UniSTS:71209

STS-D59484 (e-PCR)
- UniSTS:77870

HUEST-D59484 (e-PCR)
- UniSTS:77870

D7S505 (e-PCR)
- UniSTS:10546

D8S2279 (e-PCR)
- UniSTS:473907

RH119056 (e-PCR)
- UniSTS:138300

STS-H64261 (e-PCR)
- UniSTS:23119

SHGC-149398 (e-PCR)
- UniSTS:176980

SHGC-154217 (e-PCR)
- UniSTS:178021

SHGC-154218 (e-PCR)
- UniSTS:178022

GDB:1317758 (e-PCR)
- UniSTS:42352

RH94262 (e-PCR)
- UniSTS:90486

G35510 (e-PCR)
- UniSTS:44150

SHGC-81601 (e-PCR)
- UniSTS:103552

G20467 (e-PCR)
- UniSTS:17816

A005S32 (e-PCR)
- UniSTS:17817

SHGC-8964 (e-PCR)
- UniSTS:69287

G62061 (e-PCR)
- UniSTS:139175

SHGC-156157 (e-PCR)
- UniSTS:185285

D7S3070 (e-PCR), detects polymorphism
- UniSTS:31687

A006W27 (e-PCR)
- UniSTS:7369

SGC32330 (e-PCR)
- UniSTS:23512

GDB:4585559 (e-PCR)
- UniSTS:29919

RH103953 (e-PCR)
- UniSTS:98278

D7S688 (e-PCR)
- UniSTS:71399

GDB:3754224 (e-PCR)
- UniSTS:80631

Genotypes

See PRKAG2 SNP Geneview Report
See PRKAG2 SNP Genotype Report
See PRKAG2 SNP Variation Viewer Report

Homology

Homologs of the PRKAG2 gene: The PRKAG2 gene is conserved in chimpanzee, dog, mouse, rat, chicken, zebrafish, fruit fly, mosquito, S.cerevisiae, K.lactis, E.gossypii, S.pombe, M.oryzae, N.crassa, and rice.
Map Viewer (Mouse, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
ADP binding	IDA Inferred from Direct Assay more info	PubMed
ATP binding	IDA Inferred from Direct Assay more info	PubMed
cAMP-dependent protein kinase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
cAMP-dependent protein kinase regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
phosphorylase kinase regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
protein kinase activator activity	IMP Inferred from Mutant Phenotype more info	PubMed
protein kinase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
ATP biosynthetic process	TAS Traceable Author Statement more info	PubMed
carnitine shuttle	TAS Traceable Author Statement more info
cell cycle arrest	TAS Traceable Author Statement more info
cellular lipid metabolic process	TAS Traceable Author Statement more info
cellular membrane organization	TAS Traceable Author Statement more info
energy reserve metabolic process	TAS Traceable Author Statement more info
fatty acid biosynthetic process	IEA Inferred from Electronic Annotation more info
glycogen metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
insulin receptor signaling pathway	TAS Traceable Author Statement more info
intracellular protein kinase cascade	IMP Inferred from Mutant Phenotype more info	PubMed
negative regulation of protein kinase activity	IDA Inferred from Direct Assay more info	PubMed
positive regulation of peptidyl-threonine phosphorylation	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of protein kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of fatty acid biosynthetic process	TAS Traceable Author Statement more info
regulation of fatty acid metabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of fatty acid oxidation	TAS Traceable Author Statement more info	PubMed
regulation of glucose import	TAS Traceable Author Statement more info	PubMed
regulation of glycolysis	IMP Inferred from Mutant Phenotype more info	PubMed
small molecule metabolic process	TAS Traceable Author Statement more info
sterol biosynthetic process	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
AMP-activated protein kinase complex	IDA Inferred from Direct Assay more info	PubMed
cytosol	TAS Traceable Author Statement more info
nucleoplasm	TAS Traceable Author Statement more info

General protein information

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

Names: 5'-AMP-activated protein kinase subunit gamma-2; AMPK subunit gamma-2

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.

Genomic

NG_007486.1 RefSeqGene

Range

5001..326117

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001040633.1 → NP_001035723.1 5'-AMP-activated protein kinase subunit gamma-2 isoform c

Status: REVIEWED

Description

Transcript Variant: This variant (c) contains an alternate 5' exon and the translation starts from a downstream AUG codon, compared to variant a. The resulting isoform (c) has a shorter N-terminus when compared to isoform a.

Source sequence(s)

BC020540, BC068598, BM988346, DA084454, DA187928, DA697901

Consensus CDS

CCDS43683.1

UniProtKB/Swiss-Prot

Q9UGJ0

Conserved Domains (3) summary

COG0517
Location:315 – 435
Blast Score: 126

COG0517; FOG: CBS domain [General function prediction only]

cd04618
Location:234 – 363
Blast Score: 335

CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

cd04641
Location:390 – 509
Blast Score: 472

CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
NM_016203.3 → NP_057287.2 5'-AMP-activated protein kinase subunit gamma-2 isoform a

Status: REVIEWED

Description

Transcript Variant: This variant (a) represents the longest transcript and encodes the longest isoform (a, also referred to as PRKAG2-a).

Source sequence(s)

AI084919, AJ249976, BC020540, BM988346, DA123009

Consensus CDS

CCDS5928.1

UniProtKB/Swiss-Prot

Q9UGJ0

Related

ENSP00000287878, OTTHUMP00000211953, ENST00000287878, OTTHUMT00000348440

Conserved Domains (3) summary

COG0517
Location:359 – 479
Blast Score: 126

COG0517; FOG: CBS domain [General function prediction only]

cd04618
Location:278 – 407
Blast Score: 337

CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

cd04641
Location:434 – 553
Blast Score: 473

CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
NM_024429.1 → NP_077747.1 5'-AMP-activated protein kinase subunit gamma-2 isoform b

Status: REVIEWED

Description

Transcript Variant: This variant (b) contains a distinct 5' UTR and lacks a large in-frame portion of the 5' coding region, compared to variant a. The resulting isoform (b, also referred to as PRKAG2-b) has a much shorter N-terminus when compared to isoform a.

Source sequence(s)

AK001887, BC020540, BM988346

Consensus CDS

CCDS47752.1

UniProtKB/Swiss-Prot

Q9UGJ0

Related

ENSP00000387386, OTTHUMP00000211954, ENST00000418337, OTTHUMT00000348441

Conserved Domains (3) summary

COG0517
Location:194 – 310
Blast Score: 108

COG0517; FOG: CBS domain [General function prediction only]

cd04618
Location:37 – 166
Blast Score: 317

CBS_pair_5; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

cd04641
Location:193 – 312
Blast Score: 446

CBS_pair_28; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p10 Primary Assembly

Range

151253200..151574316, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

145065108..145385764, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

150582427..150901526, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018918.1 Alternate CHM1_1.0

Range

154704962..155025478, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AACC02000108.1	EAL24516.1
genomic	ABBA01035143.1 (133093..134247)	None
genomic	ABBA01035144.1	None
genomic	ABBA01035145.1	None
genomic	ABBA01035146.1	None
genomic	ABBA01035147.1	None
genomic	ABBA01035148.1	None
genomic	ABBA01035149.1	None
genomic	ABBA01035150.1	None
genomic	ABBA01035151.1	None
genomic	AC006358.6	AAS02032.1
genomic	AC006966.3	AAF03528.2
genomic	AC074257.5	None
genomic	AC093583.3 (2001..111721)	None
genomic	AMYH01018145.1 (153882..230090)	None
genomic	AMYH01018146.1	None
genomic	AMYH01018147.1	None
genomic	CH471173.2	EAW53983.1
		EAW53984.1
mRNA	AB025580.1	BAA84695.1
mRNA	AF087875.1	AAK00413.1
mRNA	AI084919.1	None
mRNA	AJ249976.1	CAB65116.1
mRNA	AK001887.1	BAA91962.1
mRNA	AK074675.1	BAC11129.1
mRNA	AK092716.1	None
mRNA	AK301123.1	BAH13414.1
mRNA	AK307798.1	None
mRNA	AK308116.1	None
mRNA	AK314646.1	None
mRNA	BC020540.1	AAH20540.2
mRNA	BC068598.1	AAH68598.1
mRNA	BM988346.1	None
mRNA	BT007127.1	AAP35791.1
mRNA	DA084454.1	None
mRNA	DA123009.1	None
mRNA	DA187928.1	None
mRNA	DA697901.1	None
other-genetic	HQ447509.1	ADQ31995.1