GTF3C3

Chr 2

general transcription factor IIIC subunit 3

Also known as: NEDFBS, TFIIIC102, TFIIICgamma, TFiiiC2-102

NCBI Gene: 9330 ENSG00000119041 UniProt: Q9Y5Q9

The protein is an integral component of the TFIIIC2 complex that directly binds tRNA and viral RNA promoters to recruit RNA polymerase III for transcription of small nuclear and cytoplasmic RNAs. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures. The gene is highly constrained against loss-of-function variants (LOEUF 0.588), indicating intolerance to reduced protein function.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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