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Gene Gene information from NCBI Gene database.
Entrez ID 84265
Gene name RNA polymerase III subunit GL
Gene symbol POLR3GL
Synonyms (NCBI Gene)
RPC32HOMSOFMflj32422
Chromosome 1
Chromosome location 1q21.1
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs782661984 G>A Likely-pathogenic Splice acceptor variant
rs1553763618 G>A Likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
48 Show/Hide all (48)
miRTarBase ID miRNA Experiments Reference
MIRT1249363 hsa-miR-1207-5p CLIP-seq
MIRT1249364 hsa-miR-1909 CLIP-seq
MIRT1249365 hsa-miR-3177-5p CLIP-seq
MIRT1249366 hsa-miR-4763-3p CLIP-seq
MIRT2073646 hsa-miR-1324 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9 Show/Hide all (9)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 20154270, 21358628, 25416956, 28514442, 31515488, 32296183, 33961781, 35271311
GO:0005634 Component Nucleus IDA 20154270, 24107381
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0005666 Component RNA polymerase III complex IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617457 28466 ENSG00000121851
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BT43
Protein name DNA-directed RNA polymerase III subunit RPC7-like (RNA polymerase III subunit C7-like) (DNA-directed RNA polymerase III subunit G-like) (RNA polymerase III 32 kDa beta subunit) (RPC32-beta)
Protein function DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. {ECO
PDB 5AFQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF11705 RNA_pol_3_Rpc31 4 → 204 DNA-directed RNA polymerase III subunit Rpc31 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed in CD4-positive T cells. {ECO:0000269|PubMed:20154270, ECO:0000269|PubMed:35637192}.
Sequence
Sequence length 218
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
RNA polymerase Cytosolic sensors of pathogen-associated DNA
Cytosolic DNA-sensing pathway RNA Polymerase III Transcription Initiation From Type 1 Promoter
  RNA Polymerase III Transcription Initiation From Type 2 Promoter
  RNA Polymerase III Transcription Initiation From Type 3 Promoter
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Show/Hide Causal Diseases (6)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal facial shape Likely pathogenic; Pathogenic rs1553763618, rs782661984 RCV000766135
RCV000766136
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperostosis Likely pathogenic; Pathogenic rs1553763618, rs782661984 RCV000766135
RCV000766136
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia Likely pathogenic; Pathogenic rs1553763618, rs782661984 RCV000766135
RCV000766136
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POLR3GL-related disorder Pathogenic rs1401599439, rs782661984 RCV003399112
RCV003411691
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short stature Likely pathogenic; Pathogenic rs1553763618, rs782661984 RCV000766135
RCV000766136
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (11)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Neoplasms Breast neoplasm Pubtator 37338518 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Facial Dysmorphism with Multiple Malformations Facial dysmorphism syndrome Pubtator 31089205 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 31089205 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Hyperostosis Hyperostosis CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypodontia Hypodontia BEFREE 31089205, 31695177
★★★★★
★☆☆☆☆
Found in Text Mining only
Oligodontia Oligodontia BEFREE 31089205, 31695177
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Oligodontia Oligodontia CLINVAR_DG
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Osteochondrodysplasias Osteochondrodysplasias Pubtator 31089205, 31695177 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Pancreatic Neoplasms Pancreatic neoplasm Pubtator 36275722 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Van Buchem disease Van Buchem Disease BEFREE 31089205
★★★★★
★☆☆☆☆
Found in Text Mining only