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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8575
Gene name	Protein activator of interferon induced protein kinase EIF2AK2
Gene symbol	PRKRA
Synonyms (NCBI Gene)	DYT16HSD14PACTRAX
Chromosome	2
Chromosome location	2q31.2
Summary	This gene encodes a protein kinase activated by double-stranded RNA which mediates the effects of interferon in response to viral infection. Mutations in this gene have been associated with dystonia. Alternative splicing results in multiple transcript var

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SNP ID	Visualize variation	Clinical significance	Consequence
rs730880307	AT>-	Pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006123	hsa-miR-122-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	21935352
MIRT006123	hsa-miR-122-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	21935352
MIRT006123	hsa-miR-122-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	21937511
MIRT006123	hsa-miR-122-5p	Luciferase reporter assayMicroarrayqRT-PCRWestern blot	21937511
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	21935352
MIRT006128	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCRWestern blot	21935352
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2077602	hsa-miR-340	CLIP-seq
MIRT2077603	hsa-miR-561	CLIP-seq
MIRT2601131	hsa-miR-1179	CLIP-seq
MIRT2601132	hsa-miR-122	CLIP-seq
MIRT2601133	hsa-miR-127-5p	CLIP-seq
MIRT2601134	hsa-miR-1276	CLIP-seq
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT2601135	hsa-miR-3134	CLIP-seq
MIRT2601136	hsa-miR-3150b-3p	CLIP-seq
MIRT2601137	hsa-miR-3617	CLIP-seq
MIRT2601138	hsa-miR-3659	CLIP-seq
MIRT2601139	hsa-miR-4534	CLIP-seq
MIRT2601140	hsa-miR-4689	CLIP-seq
MIRT2601141	hsa-miR-4709-3p	CLIP-seq
MIRT2601142	hsa-miR-4784	CLIP-seq
MIRT2601143	hsa-miR-4786-3p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2601144	hsa-miR-516b	CLIP-seq
MIRT2601145	hsa-miR-520d-5p	CLIP-seq
MIRT2601146	hsa-miR-524-5p	CLIP-seq
MIRT2601147	hsa-miR-548n	CLIP-seq
MIRT2601148	hsa-miR-548t	CLIP-seq
MIRT2077603	hsa-miR-561	CLIP-seq
MIRT2601149	hsa-miR-621	CLIP-seq
MIRT2601150	hsa-miR-641	CLIP-seq
MIRT2601131	hsa-miR-1179	CLIP-seq
MIRT2601132	hsa-miR-122	CLIP-seq
MIRT2601133	hsa-miR-127-5p	CLIP-seq
MIRT2601134	hsa-miR-1276	CLIP-seq
MIRT1263682	hsa-miR-3065-5p	CLIP-seq
MIRT2601135	hsa-miR-3134	CLIP-seq
MIRT2601136	hsa-miR-3150b-3p	CLIP-seq
MIRT2601137	hsa-miR-3617	CLIP-seq
MIRT2601138	hsa-miR-3659	CLIP-seq
MIRT2601139	hsa-miR-4534	CLIP-seq
MIRT2601140	hsa-miR-4689	CLIP-seq
MIRT2601141	hsa-miR-4709-3p	CLIP-seq
MIRT2601142	hsa-miR-4784	CLIP-seq
MIRT2601143	hsa-miR-4786-3p	CLIP-seq
MIRT1263683	hsa-miR-495	CLIP-seq
MIRT2601144	hsa-miR-516b	CLIP-seq
MIRT2601145	hsa-miR-520d-5p	CLIP-seq
MIRT2601146	hsa-miR-524-5p	CLIP-seq
MIRT2601149	hsa-miR-621	CLIP-seq
MIRT2601150	hsa-miR-641	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003723	Function	RNA binding	IEA
GO:0003725	Function	Double-stranded RNA binding	IBA
GO:0003725	Function	Double-stranded RNA binding	IDA	23661684
GO:0003725	Function	Double-stranded RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	16424907, 16785445, 17452327, 18096616, 20064372, 21516116, 21858095, 21900206, 21903422, 21994455, 22810585, 23455922, 23661684, 23853584, 23870315, 25416956, 25910212, 28591694, 31515488, 32296183, 32707033, 33961781, 35075101, 36217029, 36217030
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22214662
GO:0005737	Component	Cytoplasm	IDA	17452327
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006955	Process	Immune response	TAS	9687506
GO:0008047	Function	Enzyme activator activity	TAS	9687506
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9687506
GO:0009615	Process	Response to virus	TAS	9687506
GO:0016020	Component	Membrane	HDA	19946888
GO:0016442	Component	RISC complex	IBA
GO:0019899	Function	Enzyme binding	IPI	23661684
GO:0030295	Function	Protein kinase activator activity	IDA	29170442
GO:0030422	Process	SiRNA processing	IBA
GO:0030422	Process	SiRNA processing	IDA	17452327
GO:0030422	Process	SiRNA processing	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0031054	Process	Pre-miRNA processing	IDA	16424907, 23661684
GO:0031054	Process	Pre-miRNA processing	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0035196	Process	MiRNA processing	IDA	23661684
GO:0035197	Function	SiRNA binding	IBA
GO:0042473	Process	Outer ear morphogenesis	IEA
GO:0042474	Process	Middle ear morphogenesis	IEA
GO:0042802	Function	Identical protein binding	IPI	16169070, 21900206, 25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IPI	17452327
GO:0043583	Process	Ear development	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048705	Process	Skeletal system morphogenesis	IEA
GO:0050821	Process	Protein stabilization	IMP	16424907
GO:0070578	Component	RISC-loading complex	IBA
GO:0070578	Component	RISC-loading complex	IDA	23661684
GO:0070578	Component	RISC-loading complex	IEA
GO:0070578	Component	RISC-loading complex	IPI	23661684
GO:0070883	Function	Pre-miRNA binding	IDA	23661684
GO:0070883	Function	Pre-miRNA binding	IEA
GO:0070920	Process	Regulation of regulatory ncRNA processing	IBA
GO:0070922	Process	RISC complex assembly	IDA	23661684
GO:0070922	Process	RISC complex assembly	IEA
GO:0140374	Process	Antiviral innate immune response	IDA	26454002
GO:2001244	Process	Positive regulation of intrinsic apoptotic signaling pathway	IEA

MIM	HGNC	e!Ensembl
603424	9438	ENSG00000180228

O75569

Protein name

Interferon-inducible double-stranded RNA-dependent protein kinase activator A (PKR-associated protein X) (PKR-associating protein X) (Protein activator of the interferon-induced protein kinase) (Protein kinase, interferon-inducible double-stranded RNA-dep

Protein function

Activates EIF2AK2/PKR in the absence of double-stranded RNA (dsRNA), leading to phosphorylation of EIF2S1/EFI2-alpha and inhibition of translation and induction of apoptosis. Required for siRNA production by DICER1 and for subsequent siRNA-media

PDB

2DIX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00035	dsrm	35 → 99	Double-stranded RNA binding motif	Domain
PF00035	dsrm	127 → 192	Double-stranded RNA binding motif	Domain
PF16482	Staufen_C	218 → 310	Staufen C-terminal domain	Domain

Sequence

MSQSRHRAEAPPLEREDSGTFSLGKMITAKPGKTPIQVLHEYGMKTKNIPVYECERSDVQ
IHVPTFTFRVTVGDITCTGEGTSKKLAKHRAAEAAINILKANASICFAVPDPLMPDPSKQ
PKNQLNPIGSLQELAIHHGWRLPEYTLSQEGGPAHKREYTTICRLESFMETGKGASKKQA
KRNAAEKFLAKFSNISPENHISLTNVVGHSLGCTWHSLRNSPGEKINLLKRSLLSIPNTD
YIQLLSEIAKEQGFNITYLDIDELSANGQYQCLAELSTSPITVCHGSGISCGNAQSDAAH
NALQYLKIIAERK

Sequence length

313

Interactions

View interactions

	Reactome
			MicroRNA (miRNA) biogenesis Small interfering RNA (siRNA) biogenesis

201

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dystonia 16	Likely pathogenic; Pathogenic	rs775832077, rs752452731, rs121434410, rs730880307	RCV001355601 RCV002250264 RCV000006718 RCV000006719
PRKRA-related disorder	Likely pathogenic; Pathogenic	rs121434410	RCV003914817

Show/Hide Unknown Diseases (19)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs61999302	RCV005896004
Cholangiocarcinoma	Benign; Likely benign	rs138320145	RCV005869324
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	rs138320145	RCV005869325
Colon adenocarcinoma	Benign; Likely benign	rs138320145	RCV005869315
Colorectal cancer	Benign; Likely benign	rs138320145, rs61999302	RCV005869322 RCV005896005
Dystonic disorder	Uncertain significance; Benign; Likely benign	rs559331370, rs886055205, rs3997880, rs138320145, rs61999302, rs114562223, rs112215702, rs145339215, rs199996045, rs768973196, rs181659955	RCV000264679 RCV000329159 RCV000365167 RCV000285008 RCV000315467 RCV000382219 RCV000287755 RCV000301893 RCV000395086 RCV000345854 RCV000321858
Familial cancer of breast	Likely benign; Benign; Uncertain significance	rs142526452, rs138320145, rs886055204	RCV005919209 RCV005869314 RCV005896009
Familial pancreatic carcinoma	Benign; Likely benign; Uncertain significance	rs138320145, rs886055204	RCV005869320 RCV005896010
Lymphoma	Benign; Likely benign	rs138320145	RCV005869323
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	rs138320145	RCV005869321
Malignant tumor of esophagus	Benign; Likely benign	rs138320145, rs61999302	RCV005869316 RCV005896002
Malignant tumor of urinary bladder	Likely benign	rs142526452	RCV005919210
Nonpapillary renal cell carcinoma	Likely benign; Benign; -	rs142526452, rs138320145, rs61999302, rs200649428	RCV005919211 RCV005869317 RCV005896003 RCV006221742
Ovarian cancer	Benign; Likely benign	rs138320145	RCV005869318
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs142526452, rs61999302	RCV005919212 RCV005896007
Sarcoma	Benign; Likely benign	rs61999302	RCV005896006
Thyroid cancer, nonmedullary, 1	Uncertain significance; -	rs201254634, rs763972728	RCV005927068 RCV006221744
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs142526452, rs61999302	RCV005919213 RCV005896008
Uveal melanoma	Benign; Likely benign	rs138320145	RCV005869319

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Asthma	Associate	35597955
Carcinoma Hepatocellular	Associate	35035655
Colorectal Neoplasms	Associate	27107574, 27859935
Dermatitis Atopic	Associate	25574825
Dystonia	Associate	22842711, 25150291, 26231208, 33049316, 33236446, 35625640
Inflammation	Associate	29170442
Lupus Erythematosus Systemic	Stimulate	20538795
Multiple Sclerosis	Associate	36755464
Myotonic Dystrophy	Associate	34520479
Neoplasms	Associate	27107574, 33406242
Neurodegenerative Diseases	Associate	29170442
Parkinsonian Disorders	Stimulate	22842711
Parkinsonism Dystonia Infantile	Associate	22842711
Psoriasis	Associate	25574825
Triple Negative Breast Neoplasms	Associate	36077333

PRKRA (protein activator of interferon induced protein kinase EIF2AK2)