Gene Gene information from NCBI Gene database.
Entrez ID 51422
Gene name Protein kinase AMP-activated non-catalytic subunit gamma 2
Gene symbol PRKAG2
Synonyms (NCBI Gene)
AAKGAAKG2CMH6H91620pWPWS
Chromosome 7
Chromosome location 7q36.1
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. AMP
SNPs SNP information provided by dbSNP.
27
SNP ID Visualize variation Clinical significance Consequence
rs28938173 G>T Pathogenic, likely-pathogenic Missense variant, coding sequence variant
rs61746358 G>A,T Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign Genic upstream transcript variant, 5 prime UTR variant, missense variant, synonymous variant, coding sequence variant
rs116541276 T>C Likely-benign, benign, conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant
rs121908987 C>A,G,T Uncertain-significance, pathogenic Missense variant, coding sequence variant
rs121908988 T>C Uncertain-significance, pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
78
miRTarBase ID miRNA Experiments Reference
MIRT1262410 hsa-miR-132 CLIP-seq
MIRT1262411 hsa-miR-1324 CLIP-seq
MIRT1262412 hsa-miR-155 CLIP-seq
MIRT1262413 hsa-miR-205 CLIP-seq
MIRT1262414 hsa-miR-212 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004679 Function AMP-activated protein kinase activity IEA
GO:0004862 Function CAMP-dependent protein kinase inhibitor activity IDA 17255938
GO:0005515 Function Protein binding IPI 32814053
GO:0005524 Function ATP binding IDA 15877279
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602743 9386 ENSG00000106617
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UGJ0
Protein name 5'-AMP-activated protein kinase subunit gamma-2 (AMPK gamma2) (AMPK subunit gamma-2) (H91620p)
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:24563466). In response to reduction of intracellular ATP leve
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00571 CBS 355 410 CBS domain Domain
PF00571 CBS 429 484 CBS domain Domain
PF00571 CBS 502 556 CBS domain Domain
Tissue specificity TISSUE SPECIFICITY: Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.
Sequence
MGSAVMDTKKKKDVSSPGGSGGKKNASQKRRSLRVHIPDLSSFAMPLLDGDLEGSGKHSS
RKVDSPFGPGSPSKGFFSRGPQPRPSSPMSAPVRPKTSPGSPKTVFPFSYQESPPRSPRR
MSFSGIFRSSSKESSPNSNPATSPGGIRFFSRSRKTSGLSSSPSTPTQVTKQHTFPLESY
KHEPERLENRIYASSSPPDTGQRFCPSSFQSPTRPPLASPTHYAPSKAAALAAALGPAEA
GMLEKLEFEDEAVEDSESGVYMRFMRSHKCYDIVPTSSKLVVFDTTLQVKKAFFALVANG
VRAAPLWESKKQSFVGMLTITDFINILHRYYKSPMVQIYELEEHKIETWRELYLQETFKP
LVNISPDASLFDAVYSLIKNKIHRLPVIDPISGNALYILTHKRILKFLQL
FMSDMPKPAF
MKQNLDELGIGTYHNIAFIHPDTPIIKALNIFVERRISALPVVDESGKVVDIYSKFDVIN
LAAE
KTYNNLDITVTQALQHRSQYFEGVVKCNKLEILETIVDRIVRAEVHRLVVVNEADS
IVGIISLSDILQALIL
TPAGAKQKETETE
Sequence length 569
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
68
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cardiomyopathy Pathogenic; Likely pathogenic rs121908987, rs193922697 RCV000769245
RCV000030377
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype Pathogenic; Likely pathogenic rs121908987, rs121908990, rs267606977 RCV000621452
RCV002399312
RCV002399313
RCV002369682
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Pathogenic rs121908987 RCV002222346
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer Pathogenic rs121908991 RCV005887336
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOMALOUS ATRIOVENTRICULAR EXCITATION Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 32039845 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anemia Anemia BEFREE 29411465
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Anorexia Nervosa Anorexia nervosa Pubtator 35703085 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmias Cardiac Cardiac arrhythmias Pubtator 11407343, 32646569 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy BEFREE 19632136
★☆☆☆☆
Found in Text Mining only
Arthritis, Gouty Gouty arthritis GWASDB_DG 23263486
★☆☆☆☆
Found in Text Mining only
Asymmetric Septal Hypertrophy Septal Hypertrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 11748095
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation LHGDN 11748095
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 32646569, 37203300 Associate
★☆☆☆☆
Found in Text Mining only