PRKACG (protein kinase cAMP-activated catalytic subunit gamma)

Gene

• Entrez ID: 5568
• Gene name: Protein kinase cAMP-activated catalytic subunit gamma
• Gene symbol: PRKACG
• Synonyms: BDPLT19, KAPG, PKACg
• Chromosome: 9
• Chromosome location: 9q21.11
• Summary: Cyclic AMP-dependent protein kinase (PKA) consists of two catalytic subunits and a regulatory subunit dimer. This gene encodes the gamma form of its catalytic subunit. The gene is intronless and is thought to be a retrotransposon derived from the gene for

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs724159972	G>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1262351	hsa-miR-1207-3p	CLIP-seq
MIRT1262352	hsa-miR-138	CLIP-seq
MIRT1262353	hsa-miR-1915	CLIP-seq
MIRT1262354	hsa-miR-298	CLIP-seq
MIRT1262355	hsa-miR-3126-5p	CLIP-seq
MIRT1262356	hsa-miR-3154	CLIP-seq
MIRT1262357	hsa-miR-3159	CLIP-seq
MIRT1262358	hsa-miR-3160-3p	CLIP-seq
MIRT1262359	hsa-miR-3179	CLIP-seq
MIRT1262360	hsa-miR-3667-3p	CLIP-seq
MIRT1262361	hsa-miR-4251	CLIP-seq
MIRT1262362	hsa-miR-4419a	CLIP-seq
MIRT1262363	hsa-miR-4492	CLIP-seq
MIRT1262364	hsa-miR-4498	CLIP-seq
MIRT1262365	hsa-miR-4510	CLIP-seq
MIRT1262366	hsa-miR-4514	CLIP-seq
MIRT1262367	hsa-miR-4645-5p	CLIP-seq
MIRT1262368	hsa-miR-4673	CLIP-seq
MIRT1262369	hsa-miR-4692	CLIP-seq
MIRT1262370	hsa-miR-4694-5p	CLIP-seq
MIRT1262371	hsa-miR-4710	CLIP-seq
MIRT1262372	hsa-miR-4726-3p	CLIP-seq
MIRT1262373	hsa-miR-539	CLIP-seq
MIRT1262374	hsa-miR-646	CLIP-seq
MIRT1262375	hsa-miR-762	CLIP-seq
MIRT1262376	hsa-miR-940	CLIP-seq
MIRT1262353	hsa-miR-1915	CLIP-seq
MIRT2077353	hsa-miR-3183	CLIP-seq
MIRT1262360	hsa-miR-3667-3p	CLIP-seq
MIRT1262366	hsa-miR-4514	CLIP-seq
MIRT1262367	hsa-miR-4645-5p	CLIP-seq
MIRT1262368	hsa-miR-4673	CLIP-seq
MIRT1262369	hsa-miR-4692	CLIP-seq
MIRT2077354	hsa-miR-4723-3p	CLIP-seq
MIRT1262372	hsa-miR-4726-3p	CLIP-seq
MIRT1262376	hsa-miR-940	CLIP-seq
MIRT1262355	hsa-miR-3126-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	TAS
GO:0003091	Process	Renal water homeostasis	TAS
GO:0004679	Function	AMP-activated protein kinase activity	IEA
GO:0004691	Function	CAMP-dependent protein kinase activity	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006468	Process	Protein phosphorylation	IEA
GO:0007283	Process	Spermatogenesis	TAS	9598317
GO:0007596	Process	Blood coagulation	TAS
GO:0008584	Process	Male gonad development	TAS	9598317
GO:0010737	Process	Protein kinase A signaling	IBA	21873635
GO:0034199	Process	Activation of protein kinase A activity	TAS
GO:0034237	Function	Protein kinase A regulatory subunit binding	IBA	21873635
GO:0034380	Process	High-density lipoprotein particle assembly	TAS
GO:0071377	Process	Cellular response to glucagon stimulus	TAS
GO:0097546	Component	Ciliary base	TAS

Other IDs

• MIM: 176893
• HGNC: 9382
• e!Ensembl: ENSG00000165059

Protein

• UniProt ID: P22612
• Protein name: cAMP-dependent protein kinase catalytic subunit gamma (PKA C-gamma) (EC 2.7.11.11)
• Protein function: Phosphorylates a large number of substrates in the cytoplasm and the nucleus.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	44 → 298	Protein kinase domain	Domain

• Sequence:

  MGNAPAKKDTEQEESVNEFLAKARGDFLYRWGNPAQNTASSDQFERLRTLGMGSFGRVML
  VRHQETGGHYAMKILNKQKVVKMKQVEHILNEKRILQAIDFPFLVKLQFSFKDNSYLYLV
  MEYVPGGEMFSRLQRVGRFSEPHACFYAAQVVLAVQYLHSLDLIHRDLKPENLLIDQQGY
  LQVTDFGFAKRVKGRTWTLCGTPEYLAPEIILSKGYNKAVDWWALGVLIYEMAVGFPPFY
  ADQPIQIYEKIVSGRVRFPSKLSSDLKHLLRSLLQVDLTKRFGNLRNGVGDIKNHKWFAT
  TSWIAIYEKKVEAPFIPKYTGPGDASNFDDYEEEELRISINEKCAKEFSEF

• Sequence length: 351

Pathways

KEGG:

Endocrine resistance
MAPK signaling pathway
Ras signaling pathway
Calcium signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Hormone signaling
Oocyte meiosis
Autophagy - animal
Longevity regulating pathway
Longevity regulating pathway - multiple species
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Wnt signaling pathway
Hedgehog signaling pathway
Apelin signaling pathway
Tight junction
Gap junction
Platelet activation
Circadian entrainment
Thermogenesis
Long-term potentiation
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
Serotonergic synapse
GABAergic synapse
Dopaminergic synapse
Olfactory transduction
Taste transduction
Inflammatory mediator regulation of TRP channels
Insulin signaling pathway
Insulin secretion
GnRH signaling pathway
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Thyroid hormone signaling pathway
Oxytocin signaling pathway
Glucagon signaling pathway
Regulation of lipolysis in adipocytes
Renin secretion
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Growth hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption
Vasopressin-regulated water reabsorption
Salivary secretion
Gastric acid secretion
Bile secretion
Parkinson disease
Prion disease
Cocaine addiction
Amphetamine addiction
Morphine addiction
Alcoholism
Vibrio cholerae infection
Amoebiasis
Human cytomegalovirus infection
Human papillomavirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
Chemical carcinogenesis - receptor activation
Dilated cardiomyopathy

Reactome:

PKA activation
PKA activation in glucagon signalling
DARPP-32 events
Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
Rap1 signalling
Regulation of insulin secretion
Vasopressin regulates renal water homeostasis via Aquaporins
VEGFA-VEGFR2 Pathway
CREB1 phosphorylation through the activation of Adenylate Cyclase
GLI3 is processed to GLI3R by the proteasome
Hedgehog 'off' state
CD209 (DC-SIGN) signaling
MAPK6/MAPK4 signaling
RET signaling
HDL assembly
ADORA2B mediated anti-inflammatory cytokines production
FCGR3A-mediated IL10 synthesis
Factors involved in megakaryocyte development and platelet production

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Macrothrombocytopenia	Macrothrombocytopenia, Severe autosomal recessive macrothrombocytopenia	rs121908063, rs5030764, rs121918037, rs80338835, rs80338834, rs80338829, rs121913655, rs80338831, rs121913656, rs80338826, rs80338828, rs587776808, rs80338827, rs121913657, rs876661302, rs2146392848, rs121909750, rs121909751, rs121909752, rs80338830, rs387907345, rs387907348, rs387907350, rs797044804, rs1057517996, rs1321659356, rs1184544985, rs1603484047, rs1603484048, rs1297298519, rs1594756590, rs747559032, rs1598377980, rs1597638300, rs1597638379, rs1597638745, rs1601239696, rs1601248210, rs1601248859, rs1360071443, rs1254692009, rs1598700249, rs1601238563, rs1601247763, rs1601248245, rs1601248530, rs770554119
Platelet-type bleeding disorder	BLEEDING DISORDER, PLATELET-TYPE, 19	rs1560045738, rs70961716, rs142186404, rs121918035, rs121918444, rs760074158, rs2146873791, rs387907345, rs387907346, rs387907348, rs387907350, rs397989794, rs587777211, rs587777529, rs724159972, rs572295823, rs550565800, rs869320714, rs869320716, rs757188030, rs1057518838, rs1057518837, rs148051111, rs1555122100, rs1554724694, rs755459581, rs752492512, rs1592371840, rs747559032, rs778608263, rs148910227, rs3211901, rs1594755688, rs1594760036, rs1594760140, rs1594768463, rs1594771224, rs1594771270, rs551607784, rs774996406, rs200434813	25061177

Unknown
Disease name	Disease term	dbSNP ID	References
Hematomas	Spontaneous hematomas