Gene Gene information from NCBI Gene database.
Entrez ID 112858
Gene name TP53 regulating kinase
Gene symbol TP53RK
Synonyms (NCBI Gene)
BUD32C20orf64GAMOS4Nori-2Nori-2pPRPKTPRKBdJ101A2
Chromosome 20
Chromosome location 20q13.12
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs553547069 G>A Likely-pathogenic Coding sequence variant, missense variant
rs773814837 C>A,T Pathogenic Missense variant, coding sequence variant
rs776588426 C>A,T Pathogenic Missense variant, coding sequence variant
rs886913294 G>A Likely-pathogenic Missense variant, coding sequence variant
rs1431526147 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
395
miRTarBase ID miRNA Experiments Reference
MIRT048227 hsa-miR-196a-5p CLASH 23622248
MIRT037962 hsa-miR-505-5p CLASH 23622248
MIRT550710 hsa-miR-4311 PAR-CLIP 20371350
MIRT296120 hsa-miR-1277-5p PAR-CLIP 20371350
MIRT550709 hsa-miR-345-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0000408 Component EKC/KEOPS complex IBA
GO:0000408 Component EKC/KEOPS complex IDA 27903914, 28805828
GO:0000408 Component EKC/KEOPS complex IEA
GO:0002039 Function P53 binding IDA 11546806
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608679 16197 ENSG00000172315
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96S44
Protein name EKC/KEOPS complex subunit TP53RK (EC 3.6.-.-) (Atypical serine/threonine protein kinase TP53RK) (Nori-2) (TP53-regulating kinase) (EC 2.7.11.1) (p53-related protein kinase)
Protein function Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine (PubMed:22912744, PubMed:27903914). The complex is probably
PDB 6WQX , 7SZA , 7SZB , 7SZC , 7SZD
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06293 Kdo 49 225 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. Weakly expressed in heart kidney and spleen. {ECO:0000269|PubMed:11546806}.
Sequence
Sequence length 253
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Regulation of TP53 Activity through Phosphorylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Galloway-Mowat syndrome 4 Likely pathogenic; Pathogenic rs1568972559, rs1431526147, rs1432218739, rs773814837, rs774069989 RCV001580607
RCV000513210
RCV000513568
RCV000513023
RCV002489515
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Microcephaly Pathogenic rs774069989 RCV001252762
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
GALLOWAY MOWAT SYNDROME CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GALLOWAY-MOWAT SYNDROME GWAS catalog, Orphanet
GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Global developmental delay Conflicting classifications of pathogenicity; Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Seizure Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aqueductal Stenosis Aqueductal Stenosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain atrophy Brain atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 40352177 Associate
★☆☆☆☆
Found in Text Mining only
Cerebellar Hypoplasia Cerebellar Hypoplasia HPO_DG
★☆☆☆☆
Found in Text Mining only
Cerebral atrophy Cerebral Atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Chronic kidney disease stage 5 Kidney Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Class III malocclusion Malocclusion HPO_DG
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 29483219
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 26263387
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 26263387, 33547416 Associate
★☆☆☆☆
Found in Text Mining only