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TFG

Chr 3q12.2

trafficking from ER to golgi regulator

Aliases:
TF6, FLJ36137, SPG57
MANE:
ENST00000240851.9

Annotations refreshed 11 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Childhood onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Hereditary neuropathy

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Hereditary neuropathy or pain disorder

    BOTH monoallelic and biallelic, autosomal or pseudoautosomal
  • Hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Optic neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset hereditary spastic paraplegia

    BIALLELIC, autosomal or pseudoautosomal
  • Adult onset neurodegenerative disorder

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Autosomal recessive spastic paraplegia type 57

    0.78
  • hereditary motor and sensory neuropathy, Okinawa type

    0.73
  • hereditary spastic paraplegia 57

    0.73
  • autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

    0.58
  • cancer

    0.57
  • neurodegenerative disease

    0.55
  • hereditary disease

    0.41
  • anaplastic large cell lymphoma

    0.38
  • thyroid gland papillary carcinoma

    0.37
  • lung adenocarcinoma

    0.37

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

Protein function (UniProt)

Protein TFG

Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252). Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:21478858)

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.