• Gene id: 51422

Gene Summary

• Gene Symbol: PRKAG2   Gene   UCSC   Ensembl
• Aliases: AAKG, AAKG2, CMH6, H91620p, WPWS
• Gene name: protein kinase AMP-activated non-catalytic subunit gamma 2
• Alternate names: 5'-AMP-activated protein kinase subunit gamma-2, AMPK subunit gamma-2, epididymis secretory sperm binding protein, protein kinase, AMP-activated, gamma 2 non-catalytic subunit,
• Gene location: 7q36.1 (186544379: 186538442)     Exons: 3     NC_000003.12
• Gene summary(Entrez): 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
• OMIM: 602743

Protein Summary

• Protein general information: Q9UGJ0  
  • Name: 5' AMP activated protein kinase subunit gamma 2 (AMPK gamma2) (AMPK subunit gamma 2) (H91620p)
  • Length: 569  
  • Mass: 63066
  • 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:

  MGSAVMDTKKKKDVSSPGGSGGKKNASQKRRSLRVHIPDLSSFAMPLLDGDLEGSGKHSSRKVDSPFGPGSPSKG
  FFSRGPQPRPSSPMSAPVRPKTSPGSPKTVFPFSYQESPPRSPRRMSFSGIFRSSSKESSPNSNPATSPGGIRFF
  SRSRKTSGLSSSPSTPTQVTKQHTFPLESYKHEPERLENRIYASSSPPDTGQRFCPSSFQSPTRPPLASPTHYAP
  SKAAALAAALGPAEAGMLEKLEFEDEAVEDSESGVYMRFMRSHKCYDIVPTSSKLVVFDTTLQVKKAFFALVANG
  VRAAPLWESKKQSFVGMLTITDFINILHRYYKSPMVQIYELEEHKIETWRELYLQETFKPLVNISPDASLFDAVY
  SLIKNKIHRLPVIDPISGNALYILTHKRILKFLQLFMSDMPKPAFMKQNLDELGIGTYHNIAFIHPDTPIIKALN
  IFVERRISALPVVDESGKVVDIYSKFDVINLAAEKTYNNLDITVTQALQHRSQYFEGVVKCNKLEILETIVDRIV
  RAEVHRLVVVNEADSIVGIISLSDILQALILTPAGAKQKETETE

• Structural information:
  • Protein Domains: (275..33-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (357..41-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (430..49-)
    (/note="CBS-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (-)
  • Interpro: IPR039170  IPR000644  
  • Prosite: PS51371
  • STRING: ENSP00000287878
• Other Databases: GeneCards:  PRKAG2  Malacards:  PRKAG2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019887	protein kinase regulator activity	IBA	molecular function
GO:0042149	cellular response to glucose starvation	IBA	biological process
GO:0004679	AMP-activated protein kinase activity	IBA	contributes to
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0006468	protein phosphorylation	IBA	biological process
GO:0016208	AMP binding	IBA	molecular function
GO:0019901	protein kinase binding	IBA	molecular function
GO:0031588	nucleotide-activated protein kinase complex	IBA	cellular component
GO:0050790	regulation of catalytic activity	IBA	biological process
GO:0032559	adenyl ribonucleotide binding	IEA	molecular function
GO:0071900	regulation of protein serine/threonine kinase activity	IEA	biological process
GO:0006633	fatty acid biosynthetic process	IEA	biological process
GO:0006631	fatty acid metabolic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0006629	lipid metabolic process	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006853	carnitine shuttle	TAS	biological process
GO:0016236	macroautophagy	TAS	biological process
GO:0042304	regulation of fatty acid biosynthetic process	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0007050	cell cycle arrest	TAS	biological process
GO:0016241	regulation of macroautophagy	TAS	biological process
GO:0050790	regulation of catalytic activity	IEA	biological process
GO:0031588	nucleotide-activated protein kinase complex	IEA	cellular component
GO:0019901	protein kinase binding	IEA	molecular function
GO:0016208	AMP binding	IEA	molecular function
GO:0004679	AMP-activated protein kinase activity	IEA	molecular function
GO:0030295	protein kinase activator activity	IMP	molecular function
GO:0004862	cAMP-dependent protein kinase inhibitor activity	IDA	molecular function
GO:0005524	ATP binding	IDA	molecular function
GO:0019901	protein kinase binding	IDA	molecular function
GO:0043531	ADP binding	IDA	molecular function
GO:0008603	cAMP-dependent protein kinase regulator activity	IMP	molecular function
GO:0008607	phosphorylase kinase regulator activity	IMP	molecular function
GO:0005977	glycogen metabolic process	IMP	biological process
GO:0005977	glycogen metabolic process	IMP	biological process
GO:0006110	regulation of glycolytic process	IMP	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0019217	regulation of fatty acid metabolic process	IMP	biological process
GO:0046324	regulation of glucose import	TAS	biological process
GO:0006469	negative regulation of protein kinase activity	IDA	biological process
GO:0031588	nucleotide-activated protein kinase complex	IDA	cellular component
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	IMP	biological process
GO:0016126	sterol biosynthetic process	TAS	biological process
GO:0035556	intracellular signal transduction	IMP	biological process
GO:0045860	positive regulation of protein kinase activity	IMP	biological process
GO:0046320	regulation of fatty acid oxidation	TAS	biological process
GO:2000479	regulation of cAMP-dependent protein kinase activity	IEA	biological process
GO:0032147	activation of protein kinase activity	IEA	biological process
GO:2000480	negative regulation of cAMP-dependent protein kinase activity	IEA	biological process
GO:0005615	extracellular space	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04714	Thermogenesis
hsa04530	Tight junction
hsa04921	Oxytocin signaling pathway
hsa04932	Non-alcoholic fatty liver disease
hsa04371	Apelin signaling pathway
hsa04910	Insulin signaling pathway
hsa04152	AMPK signaling pathway
hsa04068	FoxO signaling pathway
hsa04922	Glucagon signaling pathway
hsa04931	Insulin resistance
hsa05410	Hypertrophic cardiomyopathy
hsa04211	Longevity regulating pathway
hsa04920	Adipocytokine signaling pathway
hsa04213	Longevity regulating pathway - multiple species
hsa04710	Circadian rhythm

Diseases

Associated diseases	References
Glycogen storage disease	KEGG:H00069
Hypertrophic cardiomyopathy	KEGG:H00292
Wolff-Parkinson-White	KEGG:H01154
Glycogen storage disease of heart	KEGG:H01956
Glycogen storage disease	KEGG:H00069
Hypertrophic cardiomyopathy	KEGG:H00292
Wolff-Parkinson-White	KEGG:H01154
Glycogen storage disease of heart	KEGG:H01956
hypertrophic cardiomyopathy	PMID:16487706
Glycogen storage disease	PMID:15877279
Wolff-Parkinson-White syndrome	PMID:15611370
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray