Skip to content
GenoLensGenoLens

GTF3C5

Chr 9q34.13

general transcription factor IIIC subunit 5

Aliases:
TFiiiC2-63, TFIIIC63, TFIIICepsilon
MANE:
ENST00000372097.10

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodegenerative disease

    0.50
  • complex neurodevelopmental disorder

    0.42
  • Intellectual disability

    0.37
  • neurodevelopmental disorder

    0.37
  • thrombocytopenia 4

    0.28
  • hemorrhagic disease

    0.28
  • disorder of visual system

    0.21
  • neuroendocrine neoplasm

    0.20
  • myeloproliferative disorder

    0.14
  • myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy

    0.12

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

Protein function (UniProt)

General transcription factor 3C polypeptide 5

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.