PRKAG3 (protein kinase AMP-activated non-catalytic subunit gamma 3)

Gene

• Entrez ID: 53632
• Gene name: Protein kinase AMP-activated non-catalytic subunit gamma 3
• Gene symbol: PRKAG3
• Synonyms (NCBI Gene): AMPKG3, SMGMQTL
• Chromosome: 2
• Chromosome location: 2q35
• 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 tha

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs138130157	G>A	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1262452	hsa-miR-103a	CLIP-seq
MIRT1262453	hsa-miR-107	CLIP-seq
MIRT1262454	hsa-miR-1184	CLIP-seq
MIRT1262455	hsa-miR-4310	CLIP-seq
MIRT1262456	hsa-miR-4418	CLIP-seq
MIRT1262457	hsa-miR-4452	CLIP-seq
MIRT1262458	hsa-miR-4658	CLIP-seq
MIRT1262459	hsa-miR-4732-3p	CLIP-seq
MIRT1262460	hsa-miR-4758-5p	CLIP-seq
MIRT1262461	hsa-miR-4765	CLIP-seq
MIRT1262462	hsa-miR-509-3-5p	CLIP-seq
MIRT1262463	hsa-miR-509-5p	CLIP-seq
MIRT1262464	hsa-miR-554	CLIP-seq
MIRT1262452	hsa-miR-103a	CLIP-seq
MIRT1262453	hsa-miR-107	CLIP-seq
MIRT2303868	hsa-miR-1178	CLIP-seq
MIRT2303869	hsa-miR-203	CLIP-seq
MIRT2303870	hsa-miR-214	CLIP-seq
MIRT2303871	hsa-miR-302f	CLIP-seq
MIRT2303872	hsa-miR-3619-5p	CLIP-seq
MIRT2303873	hsa-miR-4291	CLIP-seq
MIRT1262455	hsa-miR-4310	CLIP-seq
MIRT2303874	hsa-miR-761	CLIP-seq
MIRT2303875	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004679	Function	AMP-activated protein kinase activity	IEA
GO:0004679	Function	AMP-activated protein kinase activity	TAS	10698692
GO:0005515	Function	Protein binding	IPI	28514442, 32296183, 32707033, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006110	Process	Regulation of glycolytic process	IBA
GO:0006110	Process	Regulation of glycolytic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0014873	Process	Response to muscle activity involved in regulation of muscle adaptation	IEA
GO:0016208	Function	AMP binding	IBA
GO:0016208	Function	AMP binding	TAS
GO:0019887	Function	Protein kinase regulator activity	IBA
GO:0019887	Function	Protein kinase regulator activity	IDA	24563466
GO:0019887	Function	Protein kinase regulator activity	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019901	Function	Protein kinase binding	IDA	10698692
GO:0019901	Function	Protein kinase binding	IEA
GO:0031588	Component	Nucleotide-activated protein kinase complex	IBA
GO:0031588	Component	Nucleotide-activated protein kinase complex	IEA
GO:0031588	Component	Nucleotide-activated protein kinase complex	IPI	25412657
GO:0031588	Component	Nucleotide-activated protein kinase complex	ISS
GO:0031669	Process	Cellular response to nutrient levels	IDA	25412657
GO:0035556	Process	Intracellular signal transduction	TAS	10698692
GO:0042149	Process	Cellular response to glucose starvation	IBA
GO:0043609	Process	Regulation of carbon utilization	IBA
GO:0045719	Process	Negative regulation of glycogen biosynthetic process	IEA
GO:0045722	Process	Positive regulation of gluconeogenesis	IBA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	TAS

Other IDs

• MIM: 604976
• HGNC: 9387
• e!Ensembl: ENSG00000115592

Protein

• UniProt ID: Q9UGI9
• Protein name: 5'-AMP-activated protein kinase subunit gamma-3 (AMPK gamma3) (AMPK subunit gamma-3)
• Protein function: AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism (PubMed:14722619, PubMed:17878938, PubMed:24563466). In response to reduction of intra
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00571	CBS	273 → 333	CBS domain	Domain
  PF00571	CBS	352 → 406	CBS domain	Domain
  PF00571	CBS	417 → 479	CBS domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Skeletal muscle, with weak expression in heart and pancreas.
• Sequence:

  MEPGLEHALRRTPSWSSLGGSEHQEMSFLEQENSSSWPSPAVTSSSERIRGKRRAKALRW
  TRQKSVEEGEPPGQGEGPRSRPAAESTGLEATFPKTTPLAQADPAGVGTPPTGWDCLPSD
  CTASAAGSSTDDVELATEFPATEAWECELEGLLEERPALCLSPQAPFPKLGWDDELRKPG
  AQIYMRFMQEHTCYDAMATSSKLVIFDTMLEIKKAFFALVANGVRAAPLWDSKKQSFVGM
  LTITDFILVLHRYYRSPLVQIYEIEQHKIETWREIYLQGCFKPLVSISPNDSLFEAVYTL
  IKNRIHRLPVLDPVSGNVLHILTHKRLLKFLHIFGSLLPRPSFLYRTIQDLGIGTFRDLA
  VVLETAPILTALDIFVDRRVSALPVVNECGQVVGLYSRFDVIHLAAQQTYNHLDMSVGEA
  LRQRTLCLEGVLSCQPHESLGEVIDRIAREQVHRLVLVDETQHLLGVVSLSDILQALVLS
  PAGIDALGA

• Sequence length: 489

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARBOHYDRATE METABOLISM, INBORN ERRORS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF CARBOHYDRATE METABOLISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Increased muscle glycogen content	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRKAG3-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS	association	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	23396962		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28582508		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	28582508	Associate	★☆☆☆☆ Found in Text Mining only
Carbohydrate Metabolism, Inborn Errors	Inborn Errors Of Carbohydrate Metabolism	CTD_human_DG	10818001, 17878938		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	34589546	Associate	★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	23396962		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism, Inborn Errors	Lipid Metabolism, Inborn Errors	CTD_human_DG	17878938		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28582508		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	14970705		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17878938	Associate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	28582508		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	19574280		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	22140552, 28582508	Associate	★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	BEFREE	27866917		★☆☆☆☆ Found in Text Mining only