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GTF3C3

Chr 2q33.1

general transcription factor IIIC subunit 3

Aliases:
TFiiiC2-102, TFIIIC102
MANE:
ENST00000263956.8

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Early onset or syndromic epilepsy

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodevelopmental disorder with dysmorphic facies, brain anomalies, and seizures

    0.69
  • neurodegenerative disease

    0.45
  • complex neurodevelopmental disorder

    0.42
  • chromosome 2q32-q33 deletion syndrome

    0.30
  • neurodevelopmental disorder

    0.12
  • alcohol drinking

    0.12
  • stroke disorder

    0.11
  • spinal cord injury

    0.10
  • adrenal gland hyperfunction

    0.04
  • hyperaldosteronism

    0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

General transcription factor 3C polypeptide 3

Involved in RNA polymerase III-mediated transcription. Integral, tightly associated component of the DNA-binding TFIIIC2 subcomplex that directly binds tRNA and virus-associated RNA promoters

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.