Aliases for THAP12 Gene

Aliases for THAP12 Gene

  • THAP Domain Containing 12 2 3 5
  • 52 KDa Repressor Of The Inhibitor Of The Protein Kinase 2 3 4
  • Death-Associated Protein 4 2 3 4
  • P52rIPK 2 3 4
  • THAP0 2 3 4
  • DAP4 2 3 4
  • Protein-Kinase, Interferon-Inducible Double Stranded RNA Dependent Inhibitor, Repressor Of (P58 Repressor) 2 3
  • 58 KDa Interferon-Induced Protein Kinase-Interacting Protein 3 4
  • THAP Domain-Containing Protein 12 3 4
  • THAP Domain-Containing Protein 0 3 4
  • P58IPK-Interacting Protein 3 4
  • P58IPK-Regulatory Protein 2 3
  • PRKRIR 3 4
  • Testicular Tissue Protein Li 133 3
  • Inhibitor Of Protein Kinase PKR 3
  • P52RIPK 4
  • THAP12 5

External Ids for THAP12 Gene

Previous HGNC Symbols for THAP12 Gene

  • PRKRIR

Summaries for THAP12 Gene

GeneCards Summary for THAP12 Gene

THAP12 (THAP Domain Containing 12) is a Protein Coding gene. Diseases associated with THAP12 include Schimmelpenning-Feuerstein-Mims Syndrome and Retinitis Pigmentosa 58. An important paralog of this gene is ZMYM2.

UniProtKB/Swiss-Prot Summary for THAP12 Gene

  • Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR-inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth.

Gene Wiki entry for THAP12 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for THAP12 Gene

Genomics for THAP12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for THAP12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J076379 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 255.5 +0.0 37 3.8 ZNF207 ZNF600 MYC IKZF1 ZNF592 POLR2A ZIC2 ZBTB10 YY1 MXD4 THAP12 GVQW3 lnc-EMSY-1 lnc-WNT11-4 LINC02757 EMSY-DT WNT11
GH11J076383 Promoter 0.4 Ensembl 250.7 -2.0 -1969 0.2 ZBTB20 GVQW3 THAP12 lnc-EMSY-1 lnc-EMSY-3 EMSY
GH11J075812 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.6 +565.9 565932 6.2 SP1 MYC IKZF1 ZNF600 SIX5 JUND ZNF580 POLR2A ZNF10 ATF3 HSALNG0085819 UVRAG UVRAG-DT EMSY THAP12 RN7SL239P DGAT2 LOC105369391 WNT11
GH11J076046 Enhancer 0.9 VISTA Ensembl 10.7 +332.8 332848 2.6 ZBTB7B ZNF610 NFE2 CEBPZ CBX1 ZBTB33 ZNF626 TRIM28 CBX3 CBX5 ENSG00000255421 THAP12 EMSY lnc-DGAT2-4 piR-53540 WNT11 UVRAG
GH11J075821 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 5.4 +556.5 556534 7.1 BCLAF1 SP1 BCL11A ZNF592 TRIM22 IRF4 SMARCA5 BHLHE40 STAT5A IKZF1 DGAT2 ENSG00000254814 MOGAT2 THAP12 UVRAG ARRB1 HSALNG0085819 UVRAG-DT ENSG00000200256 WNT11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around THAP12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for THAP12

Genomic Locations for THAP12 Gene

Latest Assembly
chr11:76,349,956-76,381,132
(GRCh38/hg38)
Size:
31,177 bases
Orientation:
Minus strand

Previous Assembly
chr11:76,061,000-76,092,176
(GRCh37/hg19 by Entrez Gene)
Size:
31,177 bases
Orientation:
Minus strand

chr11:76,061,000-76,092,015
(GRCh37/hg19 by Ensembl)
Size:
31,016 bases
Orientation:
Minus strand

Genomic View for THAP12 Gene

Genes around THAP12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
THAP12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for THAP12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for THAP12 Gene

Proteins for THAP12 Gene

  • Protein details for THAP12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43422-P52K_HUMAN
    Recommended name:
    52 kDa repressor of the inhibitor of the protein kinase
    Protein Accession:
    O43422
    Secondary Accessions:
    • A8K728
    • Q17RY9
    • Q8WTW1
    • Q9Y3Z4

    Protein attributes for THAP12 Gene

    Size:
    761 amino acids
    Molecular mass:
    87704 Da
    Quaternary structure:
    • Interacts with DNAJC3, probably sequestring it.
    SequenceCaution:
    • Sequence=AAH21992.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAB43226.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for THAP12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for THAP12 Gene

Post-translational modifications for THAP12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for THAP12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for THAP12 Gene

Domains & Families for THAP12 Gene

Gene Families for THAP12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transcription factors

Protein Domains for THAP12 Gene

InterPro:
Blocks:
  • HAT dimerisation

Suggested Antigen Peptide Sequences for THAP12 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ56857, highly similar to 52 kDa repressor of the inhibitor of theprotein kinase (B4DS64_HUMAN)
  • THAP domain-containing protein 0 (P52K_HUMAN)
  • Protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) (Q2YDB3_HUMAN)
genes like me logo Genes that share domains with THAP12: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for THAP12 Gene

Function for THAP12 Gene

Molecular function for THAP12 Gene

UniProtKB/Swiss-Prot Function:
Upstream regulator of interferon-induced serine/threonine protein kinase R (PKR). May block the PKR-inhibitory function of DNAJC3, resulting in restoration of kinase activity and suppression of cell growth.

Phenotypes From GWAS Catalog for THAP12 Gene

Gene Ontology (GO) - Molecular Function for THAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 25416956
GO:0046872 metal ion binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with THAP12: view
genes like me logo Genes that share phenotypes with THAP12: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THAP12

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for THAP12 Gene

Localization for THAP12 Gene

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 THAP12 gene
Compartment Confidence
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
cytosol 1
plasma membrane 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for THAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
genes like me logo Genes that share ontologies with THAP12: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for THAP12 Gene

Pathways & Interactions for THAP12 Gene

PathCards logo

SuperPathways for THAP12 Gene

No Data Available

SIGNOR curated interactions for THAP12 Gene

Other effect:

Gene Ontology (GO) - Biological Process for THAP12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction TAS 9447982
GO:0008285 negative regulation of cell proliferation TAS 9447982
genes like me logo Genes that share ontologies with THAP12: view

No data available for Pathways by source for THAP12 Gene

Drugs & Compounds for THAP12 Gene

No Compound Related Data Available

Transcripts for THAP12 Gene

mRNA/cDNA for THAP12 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for THAP12

Alternative Splicing Database (ASD) splice patterns (SP) for THAP12 Gene

No ASD Table

Relevant External Links for THAP12 Gene

GeneLoc Exon Structure for
THAP12

Expression for THAP12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for THAP12

Evidence on tissue expression from TISSUES for THAP12 Gene

  • Nervous system(4.5)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with THAP12: view

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for THAP12 Gene

Orthologs for THAP12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for THAP12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PRKRIR 29 30
  • 99.94 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PRKRIR 29 30
  • 92.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PRKRIR 29 30
  • 92.2 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PRKRIR 30
  • 89 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Prkrir 29
  • 88.55 (n)
Mouse
(Mus musculus)
Mammalia Prkrir 29 30
  • 88.51 (n)
OneToOne
Thap12 16
Platypus
(Ornithorhynchus anatinus)
Mammalia PRKRIR 30
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PRKRIR 29 30
  • 78.67 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PRKRIR 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia prkrir 29
  • 67.26 (n)
MGC75860 29
Zebrafish
(Danio rerio)
Actinopterygii prkrirb 29 30
  • 61.4 (n)
OneToMany
prkrira 30
  • 52 (a)
OneToMany
PRKRIR (3 of 3) 30
  • 9 (a)
OneToMany
Dr.2925 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12467 29
Species where no ortholog for THAP12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 THAP12 Gene

ENSEMBL:
Gene Tree for THAP12 (if available)
TreeFam:
Gene Tree for THAP12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for THAP12: view image
Alliance of Genome Resources:
Additional Orthologs for THAP12

Paralogs for THAP12 Gene

Variants for THAP12 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for THAP12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for THAP12 Gene

Variant ID Type Subtype PubMed ID
esv2459110 CNV insertion 19546169
esv3305038 CNV mobile element insertion 20981092
esv3397613 CNV insertion 20981092
nsv521451 CNV loss 19592680
nsv975204 CNV duplication 23825009

Variation tolerance for THAP12 Gene

Residual Variation Intolerance Score: 29.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.46; 54.91% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for THAP12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
THAP12
Leiden Open Variation Database (LOVD)
THAP12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for THAP12 Gene

Disorders for THAP12 Gene

MalaCards: The human disease database

(2) MalaCards diseases for THAP12 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for THAP12

genes like me logo Genes that share disorders with THAP12: view

No data available for UniProtKB/Swiss-Prot and Genatlas for THAP12 Gene

Publications for THAP12 Gene

  1. Regulation of interferon-induced protein kinase PKR: modulation of P58IPK inhibitory function by a novel protein, P52rIPK. (PMID: 9447982) Gale M … Katze MG (Molecular and cellular biology 1998) 2 3 4
  2. The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. (PMID: 15863623) Clouaire T … Girard JP (Proceedings of the National Academy of Sciences of the United States of America 2005) 2 3
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

Products for THAP12 Gene

Sources for THAP12 Gene