Gene Gene information from NCBI Gene database.
Entrez ID 171568
Gene name RNA polymerase III subunit H
Gene symbol POLR3H
Synonyms (NCBI Gene)
C25RPC22.9RPC8
Chromosome 22
Chromosome location 22q13.2
miRNA miRNA information provided by mirtarbase database.
165
miRTarBase ID miRNA Experiments Reference
MIRT047813 hsa-miR-30d-5p CLASH 23622248
MIRT043433 hsa-miR-331-3p CLASH 23622248
MIRT043160 hsa-miR-324-5p CLASH 23622248
MIRT042471 hsa-miR-423-3p CLASH 23622248
MIRT042331 hsa-miR-484 CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0000428 Component DNA-directed RNA polymerase complex IEA
GO:0002376 Process Immune system process IEA
GO:0003677 Function DNA binding IEA
GO:0003899 Function DNA-directed RNA polymerase activity IDA 12391170
GO:0003899 Function DNA-directed RNA polymerase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619801 30349 ENSG00000100413
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y535
Protein name DNA-directed RNA polymerase III subunit RPC8 (RNA polymerase III subunit C8) (DNA-directed RNA polymerase III subunit H) (RNA polymerase III subunit 22.9 kDa subunit) (RPC22.9)
Protein function DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates (PubMed:20413673, PubMed:33558764, PubMed:34675218). Specific peripheric component of RNA polymerase III (Pol III)
PDB 7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DU2 , 7FJI , 7FJJ , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03876 SHS2_Rpb7-N 8 64 SHS2 domain found in N terminus of Rpb7p/Rpc25p/MJ0397 Domain
PF08292 RNA_pol_Rbc25 83 201 RNA polymerase III subunit Rpc25 Domain
Sequence
Sequence length 204
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  RNA polymerase
Cytosolic DNA-sensing pathway
  Cytosolic sensors of pathogen-associated DNA
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)
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
46 XX GONADAL DYSGENESIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GONADAL DYSGENESIS, 46,XX Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES Disgenet
★★☆☆☆
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
46,XX gonadal dysgenesis 46, XX gonadal dysgenesis Orphanet
★☆☆☆☆
Found in Text Mining only
Arachnoid Cysts Arachnoid cyst CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Frontal bossing Frontal bossing CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Global developmental delay Developmental Delay CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Gonadal Dysgenesis, 46,XX Gonadal Dysgenesis ORPHANET_DG 30830215
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFANTILE CEREBELLAR-RETINAL DEGENERATION Cerebellar-Retinal Degeneration CLINVAR_DG
★☆☆☆☆
Found in Text Mining only
Movement Disorders Movement Disorders CLINVAR_DG 22405087, 25351951, 26992325, 28545339
★☆☆☆☆
Found in Text Mining only
OPTIC ATROPHY 9 Optic Atrophy CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature Ovarian Failure BEFREE 30830215
★☆☆☆☆
Found in Text Mining only
Premature Menopause Premature Menopause BEFREE 30830215
★☆☆☆☆
Found in Text Mining only