Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5568
Gene name	Protein kinase cAMP-activated catalytic subunit gamma
Gene symbol	PRKACG
Synonyms (NCBI Gene)	BDPLT19KAPGPKACg
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

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

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miRTarBase ID	miRNA	Experiments
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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003091	Process	Renal water homeostasis	TAS
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	TAS
GO:0004691	Function	CAMP-dependent protein kinase activity	IBA
GO:0004691	Function	CAMP-dependent protein kinase activity	IEA
GO:0004691	Function	CAMP-dependent protein kinase activity	TAS	9598317
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005952	Component	CAMP-dependent protein kinase complex	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007283	Process	Spermatogenesis	TAS	9598317
GO:0008584	Process	Male gonad development	TAS	9598317
GO:0016301	Function	Kinase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0034237	Function	Protein kinase A regulatory subunit binding	IBA
GO:0034380	Process	High-density lipoprotein particle assembly	TAS
GO:0097546	Component	Ciliary base	TAS
GO:0097700	Process	Vascular endothelial cell response to laminar fluid shear stress	TAS
GO:0106310	Function	Protein serine kinase activity	IEA

MIM	HGNC	e!Ensembl
176893	9382	ENSG00000165059

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

Tissue specificity

TISSUE SPECIFICITY: Testis specific. But important tissues such as brain and ovary have not been analyzed for the content of transcript.

Sequence

MGNAPAKKDTEQEESVNEFLAKARGDFLYRWGNPAQNTASSDQFERLRTLGMGSFGRVML
VRHQETGGHYAMKILNKQKVVKMKQVEHILNEKRILQAIDFPFLVKLQFSFKDNSYLYLV
MEYVPGGEMFSRLQRVGRFSEPHACFYAAQVVLAVQYLHSLDLIHRDLKPENLLIDQQGY
LQVTDFGFAKRVKGRTWTLCGTPEYLAPEIILSKGYNKAVDWWALGVLIYEMAVGFPPFY
ADQPIQIYEKIVSGRVRFPSKLSSDLKHLLRSLLQVDLTKRFGNLRNGVGDIKNHKWFAT
TSWIAIYEKKVEAPFIPKYTGPGDASNFDDYEEEELRISINEKCAKEFSEF

Sequence length

351

Interactions

View interactions

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)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
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.
BLEEDING DISORDER, PLATELET-TYPE, 19	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Platelet-type bleeding disorder 19	no classifications from unflagged records	ClinVar ClinGen, ClinVar	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PRKACG-related disorder	Uncertain significance; Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SAPHO SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (40)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	15313841		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	21315692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22417847		★★★★★ ★☆☆☆☆ Found in Text Mining only
BLEEDING DISORDER, PLATELET-TYPE, 19	Platelet-type bleeding disorder	ORPHANET_DG	25061177		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 19	Platelet-type bleeding disorder	GENOMICS_ENGLAND_DG	25061177		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 19	Platelet-type bleeding disorder	UNIPROT_DG	25061177		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 19	Platelet-type bleeding disorder	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 19	Platelet-type bleeding disorder	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blood Platelet Disorders	Platelet-type bleeding disorder	BEFREE	25061177, 26164464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	25061177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	25920913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33991172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22417847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	30396963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	30248539		★★★★★ ★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	23157623		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28498444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	25323684	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	30289875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28498444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	25061177, 25323684, 26164464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25920913		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29366808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28498444		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22417847		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25920913, 28352193, 28498444, 30031856		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	24185007	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	28352193, 29100459, 30396963		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	29731854, 31715289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	12473591		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29366808		★★★★★ ★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	29387247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pleomorphic Xanthoastrocytoma	Pleomorphic Xanthoastrocytoma	BEFREE	24894018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	31086184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	18166586		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe autosomal recessive macrothrombocytopenia	Macrothrombocytopenia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	25061177	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PRKACG (protein kinase cAMP-activated catalytic subunit gamma)