HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TFG
trafficking from ER to golgi regulator
Chromosome 3 Β· 3q12.2
NCBI Gene: 10342Ensembl: ENSG00000114354.16HGNC: HGNC:11758UniProt: Q05BK6
158PubMed Papers
22Diseases
0Drugs
6Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTransporter
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingidentical protein bindingendoplasmic reticulum to Golgi vesicle-mediated transportpositive regulation of canonical NF-kappaB signal transductionAutosomal recessive spastic paraplegia type 57hereditary motor and sensory neuropathy, Okinawa typehereditary spastic paraplegia 57cancer
✦AI Summary

TFG (trafficking from ER to golgi regulator) is essential for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus 1. The protein plays a crucial role in maintaining normal dynamic function of the endoplasmic reticulum and its associated microtubules 23. TFG functions as a regulator of the secretory pathway, facilitating proper vesicle-mediated transport between cellular compartments. Disease relevance includes associations with hereditary motor and sensory neuropathy (Okinawa type) and autosomal recessive spastic paraplegia 57. Clinical significance is highlighted by the identification of homozygous likely deleterious variants in TFG in patients with compatible neuromuscular phenotypes 4. The gene has also been reported as a translocation variant in acute promyelocytic leukemia cases, though this represents a rare occurrence 5. TFG's critical role in intracellular trafficking makes it important for cellular homeostasis, and mutations can lead to various neurological disorders affecting motor and sensory functions.

Sources cited
1
TFG is required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus
PMID: 21478858
2
TFG plays a role in normal dynamic function of the endoplasmic reticulum and its associated microtubules
PMID: 23479643
3
TFG plays a role in normal dynamic function of the endoplasmic reticulum and its associated microtubules
PMID: 27813252
4
Homozygous likely deleterious variants in TFG were identified in patients with compatible phenotypes
PMID: 30237576
5
TFG is reported as a translocation variant in acute promyelocytic leukemia
PMID: 32473106
Disease Associationsβ“˜22
Autosomal recessive spastic paraplegia type 57Open Targets
0.78Strong
hereditary motor and sensory neuropathy, Okinawa typeOpen Targets
0.74Strong
hereditary spastic paraplegia 57Open Targets
0.73Strong
cancerOpen Targets
0.57Moderate
neurodegenerative diseaseOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.41Moderate
anaplastic large cell lymphomaOpen Targets
0.37Weak
papillary thyroid carcinomaOpen Targets
0.37Weak
lung adenocarcinomaOpen Targets
0.37Weak
Follicular Variant Thyroid Gland Papillary CarcinomaOpen Targets
0.37Weak
autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutationOpen Targets
0.37Weak
Benign Thyroid Gland NeoplasmOpen Targets
0.37Weak
follicular thyroid carcinomaOpen Targets
0.37Weak
thyroid gland oncocytic adenomaOpen Targets
0.37Weak
Thyroid Gland Oncocytic Follicular CarcinomaOpen Targets
0.37Weak
extraskeletal myxoid chondrosarcomaOpen Targets
0.28Weak
adenosquamous lung carcinomaOpen Targets
0.28Weak
large cell lung carcinomaOpen Targets
0.28Weak
medullary thyroid gland carcinomaOpen Targets
0.28Weak
squamous cell lung carcinomaOpen Targets
0.28Weak
Neuropathy, hereditary motor and sensory, Okinawa typeUniProt
Spastic paraplegia 57, autosomal recessiveUniProt
Pathogenic Variants6
NM_006070.6(TFG):c.316C>T (p.Arg106Cys)Pathogenic
Hereditary spastic paraplegia 57|Hereditary spastic paraplegia 57;Hereditary motor and sensory neuropathy, Okinawa type|not provided|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 106
NM_006070.6(TFG):c.64C>T (p.Arg22Trp)Pathogenic
Hereditary motor and sensory neuropathy, Okinawa type;Hereditary spastic paraplegia 57|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 22
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)Pathogenic
Hereditary motor and sensory neuropathy, Okinawa type|not provided|Hereditary spastic paraplegia 57;Hereditary motor and sensory neuropathy, Okinawa type|Amyotrophic Lateral Sclerosis with Sensory Neuropathy|See cases
β˜…β˜…β˜†β˜†2025β†’ Residue 285
NM_006070.6(TFG):c.124C>G (p.Arg42Gly)Likely pathogenic
TFG-related Spastic paraplegia
β˜…β˜†β˜†β˜†2025β†’ Residue 42
NM_006070.6(TFG):c.337C>T (p.Arg113Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2016β†’ Residue 113
NM_006070.6(TFG):c.806G>T (p.Gly269Val)Pathogenic
Hereditary motor and sensory neuropathy, Okinawa type|Hereditary spastic paraplegia 57
β˜†β˜†β˜†β˜†2022β†’ Residue 269
View on ClinVar β†—
Related Genes
NTRK1Protein interaction98%SEC16AProtein interaction94%TPRProtein interaction92%SEC13Protein interaction88%EML4Protein interaction81%KIF5BProtein interaction81%
Tissue Expression6 tissues
Liver
100%
Heart
86%
Bone Marrow
82%
Lung
59%
Brain
59%
Ovary
50%
Gene Interaction Network
Click a node to explore
TFGNTRK1SEC16ATPRSEC13EML4KIF5B
PROTEIN STRUCTURE
Preparing viewer…
PDB9E7C Β· 1.91 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.59Moderately Constrained
pLIβ“˜
0.49Tolerant
Observed/Expected LoF0.39 [0.27–0.59]
RankingsWhere TFG stands among ~20K protein-coding genes
  • #2,857of 20,598
    Most Researched158 Β· top quartile
  • #3,326of 5,498
    Most Pathogenic Variants6
  • #4,007of 17,882
    Most Constrained (LOEUF)0.59 Β· top quartile
Genes detectedTFG
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
The EFLM European Urinalysis Guideline 2023.
PMID: 38534005
Clin Chem Lab Med Β· 2024
1.00
2
Immunology and immunotherapy of cholangiocarcinoma.
PMID: 36697706
Nat Rev Gastroenterol Hepatol Β· 2023
0.90
3
Genotypic and Phenotypic Characteristics of Acute Promyelocytic Leukemia Translocation Variants.
PMID: 32473106
Hematol Oncol Stem Cell Ther Β· 2020
0.80
4
Gut microbiome-mediated bile acid metabolism regulates liver cancer via NKT cells.
PMID: 29798856
Science Β· 2018
0.70
5
The calcium-binding protein ALG-2 promotes endoplasmic reticulum exit site localization and polymerization of Trk-fused gene (TFG) protein.
PMID: 27813252
FEBS J Β· 2017
0.68