RNA polymerase I and III subunit D
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Clefting
BOTH monoallelic and biallelic, autosomal or pseudoautosomalDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDeafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
BOTH monoallelic and biallelic, autosomal or pseudoautosomalIntellectual disability
BOTH monoallelic and biallelic, autosomal or pseudoautosomalMonogenic hearing loss
Structural eye disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalTreacher Collins syndrome 2
Treacher-Collins syndrome
hereditary disease
neurodegenerative disease
Hearing impairment
ovarian neoplasm
colorectal carcinoma
exostosis
lung cancer
lung carcinoma
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
DNA-directed RNA polymerases I and III subunit RPAC2
DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Common component of RNA polymerases I and III which synthesize ribosomal RNA precursors and short non-coding RNAs including 5S rRNA, snRNAs, tRNAs and miRNAs, respectively
POLR1D · P0DPB5
Mean pLDDT
70.7/ 100
Confident
122 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
