Skip to content
GenoLensGenoLens

TRAPPC4

Chr 11q23.3

trafficking protein particle complex subunit 4

Aliases:
TRS23, SBDN, PTD009
MANE:
ENST00000533632.6

Annotations refreshed 9 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
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy

    0.70
  • Glycogen storage disease due to glucose-6-phosphatase deficiency

    0.57
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type b

    0.57
  • congenital disorder of glycosylation, type IIw

    0.53
  • glycogen storage disease I

    0.46
  • disorder of glycogen metabolism

    0.45
  • hereditary disease

    0.41
  • complex neurodevelopmental disorder

    0.37
  • neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies

    0.34
  • congenital disorder of glycosylation

    0.26

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

Protein function (UniProt)

Trafficking protein particle complex subunit 4

Core component of the TRAPP complexes which has a function of guanine nucleotide exchange factor activity for Rab1 GTPase (Probable). Plays a role in vesicular transport from endoplasmic reticulum to Golgi and autophagy (PubMed:31794024). May play a role in dendrite postsynaptic membrane trafficking (By similarity)

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.