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Aliases for PRKRA Gene

Aliases for PRKRA Gene

  • Protein Activator Of Interferon Induced Protein Kinase EIF2AK2 2 3 5
  • Protein Activator Of The Interferon-Induced Protein Kinase 2 3 4
  • Protein Kinase, Interferon-Inducible Double-Stranded RNA-Dependent Activator 3 4
  • PKR-Associating Protein X 3 4
  • PKR-Associated Protein X 3 4
  • PACT 3 4
  • RAX 3 4
  • Interferon-Inducible Double-Stranded RNA-Dependent Protein Kinase Activator A 3
  • Protein Kinase, Interferon-Inducible Double Stranded RNA Dependent Activator 2
  • DYT16 3
  • HSD14 3

External Ids for PRKRA Gene

Previous GeneCards Identifiers for PRKRA Gene

  • GC02M177358
  • GC02M177966
  • GC02M179260
  • GC02M179498
  • GC02M179121
  • GC02M179004

Summaries for PRKRA Gene

Entrez Gene Summary for PRKRA Gene

  • 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 variants. [provided by RefSeq, Nov 2008]

GeneCards Summary for PRKRA Gene

PRKRA (Protein Activator Of Interferon Induced Protein Kinase EIF2AK2) is a Protein Coding gene. Diseases associated with PRKRA include Dystonia 16 and Dystonia. Among its related pathways are Translational Control and Ceramide signaling pathway. GO annotations related to this gene include poly(A) RNA binding and identical protein binding. An important paralog of this gene is TARBP2.

UniProtKB/Swiss-Prot for PRKRA Gene

  • 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-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at Lys-386 at Ser-392 respectively and enhances its activity in a EIF2AK2/PKR-dependent manner (By similarity).

Gene Wiki entry for PRKRA Gene

Additional gene information for PRKRA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRKRA Gene

Genomics for PRKRA Gene

Regulatory Elements for PRKRA Gene

Enhancers for PRKRA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02H178412 1.2 ENCODE 11.4 +37.3 37269 2 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 FKBP7 PLEKHA3 PRKRA PJVK LOC101927027
GH02H178477 1.1 ENCODE 11.7 -28.2 -28197 3 PKNOX1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 LOC101927027 FKBP7 RBM45 PRKRA PJVK NUDCP2
GH02H178428 1 ENCODE 11.7 +23.0 22986 1 FOXA2 ATF1 ARID4B DMAP1 GATA2 MIER2 ZNF592 KAT8 NFIL3 MIER3 FKBP7 PJVK PRKRA LOC101927027
GH02H178484 0.9 Ensembl 11.7 -33.2 -33195 0 NFIB INSM2 FEZF1 ZNF366 ZSCAN5C ZNF350 ZNF391 ZNF174 TSHZ1 ZEB2 RBM45 LOC101927027 FKBP7 PJVK PRKRA NUDCP2 ENSG00000271401 PLEKHA3 TTN-AS1
GH02H177606 0.8 dbSUPER 12 +844.7 844733 1 HDAC1 PKNOX1 ZIC2 ZNF2 ZNF507 CTBP1 ZNF366 ATF7 HOMEZ L3MBTL2 RBM45 LOC101927027 HNRNPA3 PRKRA FKBP7 TTC30A AGPS GC02M177488
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRKRA on UCSC Golden Path with GeneCards custom track

Promoters for PRKRA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000126971 412 2201 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B

Transcription factor binding sites by QIAGEN in the PRKRA gene promoter:

Genomic Location for PRKRA Gene

Chromosome:
2
Start:
178,431,414 bp from pter
End:
178,451,512 bp from pter
Size:
20,099 bases
Orientation:
Minus strand

Genomic View for PRKRA Gene

Genes around PRKRA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRKRA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRKRA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRKRA Gene

Proteins for PRKRA Gene

  • Protein details for PRKRA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75569-PRKRA_HUMAN
    Recommended name:
    Interferon-inducible double-stranded RNA-dependent protein kinase activator A
    Protein Accession:
    O75569
    Secondary Accessions:
    • A8K3I6
    • Q53G24
    • Q6X7T5
    • Q8NDK4

    Protein attributes for PRKRA Gene

    Size:
    313 amino acids
    Molecular mass:
    34404 Da
    Quaternary structure:
    • Homodimer. Interacts with EIF2AK2/PKR through its DRBM domains. Interacts with DICER1, AGO2 and TARBP2. Also able to interact with dsRNA. Interacts with UBC9 (By similarity). Forms a complex with UBC9 and p53/TP53 (By similarity). Interacts with DUS2L (via DRBM domain).

    Three dimensional structures from OCA and Proteopedia for PRKRA Gene

    Alternative splice isoforms for PRKRA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRKRA Gene

Post-translational modifications for PRKRA Gene

  • Phosphorylated at Ser-246 in unstressed cells and at Ser-287 in stressed cells. Phosphorylation at Ser-246 appears to be a prerequisite for subsequent phosphorylation at Ser-287. Phosphorylation at Ser-246 and Ser-287 are necessary for activation of EIF2AK2/PKR under conditions of stress.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PRKRA (PACT)

No data available for DME Specific Peptides for PRKRA Gene

Domains & Families for PRKRA Gene

Gene Families for PRKRA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for PRKRA Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O75569

UniProtKB/Swiss-Prot:

PRKRA_HUMAN :
  • Self-association may occur via interactions between DRBM domains as follows: DRBM 1/DRBM 1, DRBM 1/DRBM 2, DRBM 2/DRBM 2 or DRBM 3/DRBM3.
  • Belongs to the PRKRA family.
Domain:
  • Self-association may occur via interactions between DRBM domains as follows: DRBM 1/DRBM 1, DRBM 1/DRBM 2, DRBM 2/DRBM 2 or DRBM 3/DRBM3.
Family:
  • Belongs to the PRKRA family.
genes like me logo Genes that share domains with PRKRA: view

Function for PRKRA Gene

Molecular function for PRKRA Gene

UniProtKB/Swiss-Prot 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-mediated post-transcriptional gene silencing. Does not seem to be required for processing of pre-miRNA to miRNA by DICER1. Promotes UBC9-p53/TP53 association and sumoylation and phosphorylation of p53/TP53 at Lys-386 at Ser-392 respectively and enhances its activity in a EIF2AK2/PKR-dependent manner (By similarity).

Phenotypes From GWAS Catalog for PRKRA Gene

Gene Ontology (GO) - Molecular Function for PRKRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0003725 double-stranded RNA binding IEA,IDA 23661684
GO:0005515 protein binding IPI 16424907
GO:0008047 enzyme activator activity IEA --
GO:0016301 kinase activity IEA --
genes like me logo Genes that share ontologies with PRKRA: view
genes like me logo Genes that share phenotypes with PRKRA: view

Human Phenotype Ontology for PRKRA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRKRA Gene

MGI Knock Outs for PRKRA:

Animal Model Products

CRISPR Products

miRNA for PRKRA Gene

miRTarBase miRNAs that target PRKRA

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PRKRA
  • Applied Biological Materials Clones for PRKRA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRKRA Gene

Localization for PRKRA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRKRA Gene

Cytoplasm, perinuclear region. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRKRA gene
Compartment Confidence
nucleus 5
cytosol 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PRKRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 17452327
GO:0005829 cytosol TAS --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PRKRA: view

Pathways & Interactions for PRKRA Gene

genes like me logo Genes that share pathways with PRKRA: view

Pathways by source for PRKRA Gene

1 Cell Signaling Technology pathway for PRKRA Gene
1 BioSystems pathway for PRKRA Gene

Gene Ontology (GO) - Biological Process for PRKRA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006955 immune response TAS 9687506
GO:0008285 negative regulation of cell proliferation TAS 9687506
GO:0009615 response to virus TAS 9687506
GO:0010586 miRNA metabolic process TAS --
genes like me logo Genes that share ontologies with PRKRA: view

No data available for SIGNOR curated interactions for PRKRA Gene

Drugs & Compounds for PRKRA Gene

No Compound Related Data Available

Transcripts for PRKRA Gene

Unigene Clusters for PRKRA Gene

Protein kinase, interferon-inducible double stranded RNA dependent activator:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PRKRA
  • Applied Biological Materials Clones for PRKRA
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PRKRA Gene

No ASD Table

Relevant External Links for PRKRA Gene

GeneLoc Exon Structure for
PRKRA
ECgene alternative splicing isoforms for
PRKRA

Expression for PRKRA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PRKRA Gene

Protein differential expression in normal tissues from HIPED for PRKRA Gene

This gene is overexpressed in Fetal Brain (7.9) and Nasal epithelium (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRKRA Gene



Protein tissue co-expression partners for PRKRA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PRKRA Gene:

PRKRA

SOURCE GeneReport for Unigene cluster for PRKRA Gene:

Hs.570274

Evidence on tissue expression from TISSUES for PRKRA Gene

  • Nervous system(4.8)
  • Heart(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRKRA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • epiglottis
  • head
  • larynx
  • mouth
  • neck
  • pharynx
  • vocal cord
Thorax:
  • esophagus
  • trachea
Abdomen:
  • stomach
Limb:
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PRKRA: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PRKRA Gene

Orthologs for PRKRA Gene

This gene was present in the common ancestor of animals.

Orthologs for PRKRA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRKRA 33 34
  • 100 (n)
dog
(Canis familiaris)
Mammalia PRKRA 33 34
  • 96.06 (n)
cow
(Bos Taurus)
Mammalia PRKRA 33 34
  • 94.78 (n)
mouse
(Mus musculus)
Mammalia Prkra 33 16 34
  • 90.31 (n)
rat
(Rattus norvegicus)
Mammalia Prkra 33
  • 90.2 (n)
oppossum
(Monodelphis domestica)
Mammalia PRKRA 34
  • 80 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRKRA 34
  • 42 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRKRA 34
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prkra 33
  • 63.65 (n)
Str.5894 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53736 33
zebrafish
(Danio rerio)
Actinopterygii prkra 33 34
  • 57.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta loqs 33 34
  • 48.35 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009781 33
  • 46.5 (n)
Species where no ortholog for PRKRA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRKRA Gene

ENSEMBL:
Gene Tree for PRKRA (if available)
TreeFam:
Gene Tree for PRKRA (if available)

Paralogs for PRKRA Gene

Paralogs for PRKRA Gene

(2) SIMAP similar genes for PRKRA Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for PRKRA Gene

genes like me logo Genes that share paralogs with PRKRA: view

Variants for PRKRA Gene

Sequence variations from dbSNP and Humsavar for PRKRA Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs121434410 Pathogenic, Dystonia 16 (DYT16) [MIM:612067] 178,436,264(-) TTCTC(C/T)TGGTG intron-variant, nc-transcript-variant, reference, missense
rs730880307 Pathogenic 178,447,554(-) AAACA(-/TA)GAGCT nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs112215702 Likely benign 178,451,211(+) CCGTA(A/G)CTCCG intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs114562223 Likely benign 178,451,207(+) GGTGC(C/T)GTAGC intron-variant, upstream-variant-2KB, utr-variant-5-prime
rs115244185 Likely benign 178,431,938(+) GCTTA(A/G)TAACA intron-variant, nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PRKRA Gene

Variant ID Type Subtype PubMed ID
dgv625e201 CNV deletion 23290073
dgv679n67 CNV gain 20364138
esv24835 CNV loss 19812545
esv2721190 CNV deletion 23290073
esv2721191 CNV deletion 23290073
esv2721192 CNV deletion 23290073
esv2721193 CNV deletion 23290073
esv2721194 CNV deletion 23290073
esv2721196 CNV deletion 23290073
esv3560606 CNV deletion 23714750
esv7371 CNV loss 19470904
esv8450 CNV loss 19470904
esv8989 CNV loss 19470904
esv9296 CNV loss 19470904
nsv819025 CNV loss 19587683
nsv819460 CNV loss 19587683
nsv820287 CNV loss 19587683
nsv821160 CNV duplication 20802225
nsv821814 CNV loss 20364138
nsv821827 CNV gain 20364138
nsv834467 CNV loss 17160897

Variation tolerance for PRKRA Gene

Residual Variation Intolerance Score: 70.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.71; 86.55% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRKRA Gene

Human Gene Mutation Database (HGMD)
PRKRA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRKRA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRKRA Gene

Disorders for PRKRA Gene

MalaCards: The human disease database

(5) MalaCards diseases for PRKRA Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia 16
  • dyt16
dystonia
  • dystonic disease
dystonia, dopa-responsive, with or without hyperphenylalaninemia
  • dystonia 5
multifocal dystonia
dystonia-12
  • generalized dystonia
- elite association - COSMIC cancer census association via MalaCards
Search PRKRA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRKRA_HUMAN
  • Dystonia 16 (DYT16) [MIM:612067]: An early-onset dystonia-parkinsonism disorder. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT16 patients have progressive, generalized dystonia with axial muscle involvement, oro-mandibular (sardonic smile) and laryngeal dystonia and, in some cases, parkinsonian features. {ECO:0000269 PubMed:18243799, ECO:0000269 PubMed:18420150}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PRKRA

Genetic Association Database (GAD)
PRKRA
Human Genome Epidemiology (HuGE) Navigator
PRKRA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRKRA
genes like me logo Genes that share disorders with PRKRA: view

No data available for Genatlas for PRKRA Gene

Publications for PRKRA Gene

  1. RAX, a cellular activator for double-stranded RNA-dependent protein kinase during stress signaling. (PMID: 10336432) Ito T … May WS (The Journal of biological chemistry 1999) 2 3 4 22 60
  2. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. (PMID: 18243799) Camargos S … Singleton AB (The Lancet. Neurology 2008) 3 4 22 60
  3. PACT, a protein activator of the interferon-induced protein kinase, PKR. (PMID: 9687506) Patel RC … Sen GC (The EMBO journal 1998) 2 3 4 60
  4. The RAX/PACT-PKR stress response pathway promotes p53 sumoylation and activation, leading to G₁ arrest. (PMID: 22214662) Bennett RL … May WS (Cell cycle (Georgetown, Tex.) 2012) 3 4 60
  5. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty SE … Australian Cancer Study (Ovarian Cancer) (PLoS genetics 2010) 3 45 60

Products for PRKRA Gene

  • Addgene plasmids for PRKRA

Sources for PRKRA Gene

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