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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5575
Gene name	Protein kinase cAMP-dependent type I regulatory subunit beta
Gene symbol	PRKAR1B
Synonyms (NCBI Gene)	MASNSPRKAR1
Chromosome	7
Chromosome location	7p22.3
Summary	The protein encoded by this gene is a regulatory subunit of cyclic AMP-dependent protein kinase A (PKA), which is involved in the signaling pathway of the second messenger cAMP. Two regulatory and two catalytic subunits form the PKA holoenzyme, disbands a

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT439902	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439902	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT1262754	hsa-miR-2278	CLIP-seq
MIRT1262755	hsa-miR-24	CLIP-seq
MIRT1262756	hsa-miR-296-5p	CLIP-seq
MIRT1262757	hsa-miR-3174	CLIP-seq
MIRT1262758	hsa-miR-3177-3p	CLIP-seq
MIRT1262759	hsa-miR-3179	CLIP-seq
MIRT1262760	hsa-miR-3202	CLIP-seq
MIRT1262761	hsa-miR-3609	CLIP-seq
MIRT1262762	hsa-miR-3936	CLIP-seq
MIRT1262763	hsa-miR-4269	CLIP-seq
MIRT1262764	hsa-miR-4271	CLIP-seq
MIRT1262765	hsa-miR-4284	CLIP-seq
MIRT1262766	hsa-miR-4468	CLIP-seq
MIRT1262767	hsa-miR-4525	CLIP-seq
MIRT1262768	hsa-miR-4532	CLIP-seq
MIRT1262769	hsa-miR-4688	CLIP-seq
MIRT1262770	hsa-miR-4707-5p	CLIP-seq
MIRT1262771	hsa-miR-4725-3p	CLIP-seq
MIRT1262772	hsa-miR-4729	CLIP-seq
MIRT1262773	hsa-miR-4747-5p	CLIP-seq
MIRT1262774	hsa-miR-4756-3p	CLIP-seq
MIRT1262775	hsa-miR-486-3p	CLIP-seq
MIRT1262776	hsa-miR-513a-5p	CLIP-seq
MIRT1262777	hsa-miR-548ah	CLIP-seq
MIRT1262778	hsa-miR-548t	CLIP-seq
MIRT1262779	hsa-miR-564	CLIP-seq
MIRT2303879	hsa-miR-1207-5p	CLIP-seq
MIRT2303880	hsa-miR-1234	CLIP-seq
MIRT2303881	hsa-miR-1293	CLIP-seq
MIRT2303882	hsa-miR-149	CLIP-seq
MIRT2303883	hsa-miR-150	CLIP-seq
MIRT2303884	hsa-miR-1909	CLIP-seq
MIRT1262755	hsa-miR-24	CLIP-seq
MIRT2303885	hsa-miR-3144-5p	CLIP-seq
MIRT2303886	hsa-miR-3150a-3p	CLIP-seq
MIRT2303887	hsa-miR-3175	CLIP-seq
MIRT2303888	hsa-miR-3184	CLIP-seq
MIRT2303889	hsa-miR-3194-5p	CLIP-seq
MIRT2303890	hsa-miR-342-5p	CLIP-seq
MIRT2303891	hsa-miR-3925-3p	CLIP-seq
MIRT2303892	hsa-miR-423-5p	CLIP-seq
MIRT2303893	hsa-miR-4258	CLIP-seq
MIRT1262765	hsa-miR-4284	CLIP-seq
MIRT2303894	hsa-miR-4463	CLIP-seq
MIRT2303895	hsa-miR-4483	CLIP-seq
MIRT2303896	hsa-miR-4492	CLIP-seq
MIRT2303897	hsa-miR-4498	CLIP-seq
MIRT2303898	hsa-miR-4505	CLIP-seq
MIRT2303899	hsa-miR-4508	CLIP-seq
MIRT1262767	hsa-miR-4525	CLIP-seq
MIRT2303900	hsa-miR-4651	CLIP-seq
MIRT2303901	hsa-miR-4664-5p	CLIP-seq
MIRT2303902	hsa-miR-4665-3p	CLIP-seq
MIRT2303903	hsa-miR-4667-5p	CLIP-seq
MIRT2303904	hsa-miR-4700-5p	CLIP-seq
MIRT2303905	hsa-miR-4716-3p	CLIP-seq
MIRT2303906	hsa-miR-4723-5p	CLIP-seq
MIRT2303907	hsa-miR-4728-5p	CLIP-seq
MIRT2303908	hsa-miR-4736	CLIP-seq
MIRT2303909	hsa-miR-4763-3p	CLIP-seq
MIRT2303910	hsa-miR-4768-3p	CLIP-seq
MIRT2303911	hsa-miR-4778-3p	CLIP-seq
MIRT2303912	hsa-miR-491-5p	CLIP-seq
MIRT1262776	hsa-miR-513a-5p	CLIP-seq
MIRT2303913	hsa-miR-603	CLIP-seq
MIRT2303914	hsa-miR-608	CLIP-seq
MIRT2303915	hsa-miR-617	CLIP-seq
MIRT2303916	hsa-miR-637	CLIP-seq
MIRT2303917	hsa-miR-665	CLIP-seq
MIRT2303918	hsa-miR-762	CLIP-seq
MIRT2303919	hsa-miR-766	CLIP-seq
MIRT2303920	hsa-miR-939	CLIP-seq
MIRT2688621	hsa-miR-1205	CLIP-seq
MIRT2303884	hsa-miR-1909	CLIP-seq
MIRT2688622	hsa-miR-3141	CLIP-seq
MIRT2303886	hsa-miR-3150a-3p	CLIP-seq
MIRT2303887	hsa-miR-3175	CLIP-seq
MIRT2688623	hsa-miR-4283	CLIP-seq
MIRT2688624	hsa-miR-4300	CLIP-seq
MIRT2688625	hsa-miR-4487	CLIP-seq
MIRT2688626	hsa-miR-4489	CLIP-seq
MIRT2303903	hsa-miR-4667-5p	CLIP-seq
MIRT2303904	hsa-miR-4700-5p	CLIP-seq
MIRT2688627	hsa-miR-4731-5p	CLIP-seq
MIRT2688628	hsa-miR-920	CLIP-seq
MIRT2303920	hsa-miR-939	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004862	Function	CAMP-dependent protein kinase inhibitor activity	IBA
GO:0004862	Function	CAMP-dependent protein kinase inhibitor activity	IDA	21812984
GO:0004862	Function	CAMP-dependent protein kinase inhibitor activity	IEA
GO:0005515	Function	Protein binding	IPI	23455922, 24605759, 28514442, 31980649, 32296183, 32707033, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005771	Component	Multivesicular body	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005952	Component	CAMP-dependent protein kinase complex	IBA
GO:0005952	Component	CAMP-dependent protein kinase complex	IEA
GO:0005952	Component	CAMP-dependent protein kinase complex	NAS	1708242
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007611	Process	Learning or memory	IEA
GO:0008603	Function	CAMP-dependent protein kinase regulator activity	IDA	21812984
GO:0008603	Function	CAMP-dependent protein kinase regulator activity	IEA
GO:0008603	Function	CAMP-dependent protein kinase regulator activity	NAS	1708242
GO:0016020	Component	Membrane	IEA
GO:0030552	Function	CAMP binding	IBA
GO:0030552	Function	CAMP binding	IEA
GO:0034236	Function	Protein kinase A catalytic subunit binding	IBA
GO:0034236	Function	Protein kinase A catalytic subunit binding	IEA
GO:0034236	Function	Protein kinase A catalytic subunit binding	IPI	21812984
GO:0045202	Component	Synapse	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0097546	Component	Ciliary base	IEA
GO:0097546	Component	Ciliary base	TAS
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0098686	Component	Hippocampal mossy fiber to CA3 synapse	IEA
GO:0098693	Process	Regulation of synaptic vesicle cycle	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IDA	21812984
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IEA
GO:1900273	Process	Positive regulation of long-term synaptic potentiation	IEA
GO:1903367	Process	Positive regulation of fear response	IEA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	IEA

MIM	HGNC	e!Ensembl
176911	9390	ENSG00000188191

P31321

Protein name

cAMP-dependent protein kinase type I-beta regulatory subunit

Protein function

Regulatory subunit of the cAMP-dependent protein kinases involved in cAMP signaling in cells.

PDB

4DIN , 4F9K

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02197	RIIa	25 → 62	Regulatory subunit of type II PKA R-subunit	Domain
PF00027	cNMP_binding	156 → 238	Cyclic nucleotide-binding domain	Domain
PF00027	cNMP_binding	273 → 360	Cyclic nucleotide-binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Four types of regulatory chains are found: I-alpha, I-beta, II-alpha, and II-beta. Their expression varies among tissues and is in some cases constitutive and in others inducible.

Sequence

MASPPACPSEEDESLKGCELYVQLHGIQQVLKDCIVHLCISKPERPMKFLREHFEKLEKE
ENRQILARQKSNSQSDSHDEEVSPTPPNPVVKARRRRGGVSAEVYTEEDAVSYVRKVIPK
DYKTMTALAKAISKNVLFAHLDDNERSDIFDAMFPVTHIAGETVIQQGNEGDNFYVVDQG
EVDVYVNGEWVTNISEGGSFGELALIYGTPRAATVKAKTDLKLWGIDRDSYRRILMGSTL
RKRKMYEEFLSKVSILESLEKWERLTVADALEPVQFEDGEKIVVQGEPGDDFYIITEGTA
SVLQRRSPNEEYVEVGRLGPSDYFGEIALLLNRPRAATVVARGPLKCVKLDRPRFERVLG
PCSEILKRNIQRYNSFISLTV

Sequence length

381

Interactions

View interactions

	KEGG		Reactome
	Insulin signaling pathway		PKA activation PKA activation in glucagon signalling DARPP-32 events Vasopressin regulates renal water homeostasis via Aquaporins CREB1 phosphorylation through the activation of Adenylate Cyclase Hedgehog 'off' state ADORA2B mediated anti-inflammatory cytokines production FCGR3A-mediated IL10 synthesis Factors involved in megakaryocyte development and platelet production

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Marbach-Schaaf neurodevelopmental syndrome	Likely pathogenic; Pathogenic	rs1475000361, rs2483243726, rs866622752	RCV001801005 RCV002465043 RCV005636850	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRKAR1B-related neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1475000361	RCV001526443	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
Acute myeloid leukemia	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY DYSKINESIA, PRIMARY, 18	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIARY MOTILITY DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRKAR1B-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (34)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	12530696		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32895490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36776048	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Apraxias	Apraxia	Pubtator	33833410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33833410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36150388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33991172	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33668685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carney Complex	Carney Complex	BEFREE	16003173, 16728532		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliary Motility Disorders	Ciliary dyskinesia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing syndrome	Pubtator	32895490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	25108559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33833410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal cerebral atrophy	Frontotemporal cerebral atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	24722252, 25108559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	29523662		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	29523662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	32895490	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33833410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24722252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33668685, 36717670	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pain Insensitivity Congenital	Congenital pain insensitivity	Pubtator	33833410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	24722252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	24722252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	25108559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary pigmented nodular adrenocortical disease	Pigmented Nodular Adrenocortical Disease	BEFREE	12530696		★★★★★ ★☆☆☆☆ Found in Text Mining only
PRKAR1B-related neurodegenerative dementia with intermediate filaments	Neurodegenerative Dementia With Intermediate Filaments	ORPHANET_DG	24722252, 25108559		★★★★★ ★☆☆☆☆ Found in Text Mining only
PRKAR1B-related neurodegenerative dementia with intermediate filaments	Neurodegenerative Dementia With Intermediate Filaments	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	36619306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	GWASCAT_DG	30566020		★★★★★ ★☆☆☆☆ Found in Text Mining only

PRKAR1B (protein kinase cAMP-dependent type I regulatory subunit beta)