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Aliases for TFG Gene

Aliases for TFG Gene

  • TRK-Fused Gene 2 3 5
  • TRK-Fused Gene Protein 3 4
  • TRKT3 Oncogene 3
  • Protein TFG 3
  • HMSNP 3
  • SPG57 3
  • TRKT3 3
  • TF6 3

External Ids for TFG Gene

Previous GeneCards Identifiers for TFG Gene

  • GC03P097099
  • GC03P099713
  • GC03P101709
  • GC03P101749
  • GC03P101910
  • GC03P100428
  • GC03P097796

Summaries for TFG Gene

Entrez Gene Summary for TFG Gene

  • There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]

GeneCards Summary for TFG Gene

TFG (TRK-Fused Gene) is a Protein Coding gene. Diseases associated with TFG include Hereditary Motor And Sensory Neuropathy, Okinawa Type and Spastic Paraplegia 57, Autosomal Recessive. Among its related pathways are Vesicle-mediated transport and Transport to the Golgi and subsequent modification. GO annotations related to this gene include identical protein binding and signal transducer activity.

UniProtKB/Swiss-Prot for TFG Gene

  • Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252).

Gene Wiki entry for TFG Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFG Gene

Genomics for TFG Gene

Regulatory Elements for TFG Gene

Enhancers for TFG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G100602 1.4 Ensembl ENCODE dbSUPER 18.2 -106.2 -106198 1.9 FOXA2 ARID4B ZNF48 RAD21 YY1 CBX5 ZNF207 FOS RELB IKZF2 TFG TMEM45A ADGRG7 GC03P100589
GH03G100639 1.4 FANTOM5 ENCODE dbSUPER 15.5 -68.0 -67953 2.9 FOXA2 BMI1 RAD21 YY1 RARA GATA2 RELB IKZF2 USF2 GATAD2B TFG ADGRG7 TMEM45A LNP1 ENSG00000252989 GC03M100588
GH03G100608 1.3 ENCODE dbSUPER 16.4 -96.8 -96832 7.2 HNRNPUL1 HDGF FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 SP3 TFG ENSG00000252989 TOMM70 TMEM45A LNP1 ADGRG7 GC03M100588
GH03G100681 1.1 ENCODE 18.3 -26.8 -26831 2.9 PKNOX1 CREB3L1 MLX ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 ZBTB7B TFG ENSG00000252989 LNP1 TMEM45A GMFBP1
GH03G100628 1.1 ENCODE dbSUPER 17.2 -79.5 -79492 1.7 PKNOX1 FOXA2 TAL1 ETV1 JUN RARA FOSL1 TCF12 FOXM1 ZNF316 TFG ADGRG7 GC03M100588 ENSG00000252989
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TFG on UCSC Golden Path with GeneCards custom track

Promoters for TFG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TFG Gene

100,709,284 bp from pter
100,748,967 bp from pter
39,684 bases
Plus strand

Genomic View for TFG Gene

Genes around TFG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFG Gene

Proteins for TFG Gene

  • Protein details for TFG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein TFG
    Protein Accession:
    Secondary Accessions:
    • D3DN49
    • G5E9V1
    • K0J5S8
    • K0J6K2
    • Q15656
    • Q969I2

    Protein attributes for TFG Gene

    400 amino acids
    Molecular mass:
    43448 Da
    Quaternary structure:
    • Self-associates to form an oligomeric complex (PubMed:23479643). Interacts with PDCD6; promoting localization and polymerization of TFG at endoplasmic reticulum exit site.

    Alternative splice isoforms for TFG Gene


neXtProt entry for TFG Gene

Post-translational modifications for TFG Gene

  • Ubiquitination at Lys47
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TFG Gene

Domains & Families for TFG Gene

Protein Domains for TFG Gene


Suggested Antigen Peptide Sequences for TFG Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TFG: view

No data available for Gene Families and UniProtKB/Swiss-Prot for TFG Gene

Function for TFG Gene

Molecular function for TFG Gene

GENATLAS Biochemistry:
TRK fused gene,involved in chromosomal rearrangement involving TRKA(NTRK1),in papillary thyroid carcinoma
UniProtKB/Swiss-Prot Function:
Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules (PubMed:23479643, PubMed:27813252).

Gene Ontology (GO) - Molecular Function for TFG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity IMP 12761501
GO:0005515 protein binding IPI 16189514
GO:0042802 identical protein binding IPI 16169070
genes like me logo Genes that share ontologies with TFG: view
genes like me logo Genes that share phenotypes with TFG: view

Human Phenotype Ontology for TFG Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TFG

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TFG Gene

Localization for TFG Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFG Gene

Endoplasmic reticulum. Note=Localizes to endoplasmic reticulum exit site (ERES) (PubMed:27813252). {ECO:0000269 PubMed:27813252}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFG gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
cytosol 5
nucleus 3
golgi apparatus 3
cytoskeleton 1
mitochondrion 1
lysosome 1

Gene Ontology (GO) - Cellular Components for TFG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005737 cytoplasm NAS 7565764
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 23376485
GO:0070971 endoplasmic reticulum exit site IDA 27813252
genes like me logo Genes that share ontologies with TFG: view

Pathways & Interactions for TFG Gene

genes like me logo Genes that share pathways with TFG: view

SIGNOR curated interactions for TFG Gene


Gene Ontology (GO) - Biological Process for TFG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport IMP 27813252
GO:0007165 signal transduction IEA --
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling IMP 12761501
GO:0048208 COPII vesicle coating TAS --
genes like me logo Genes that share ontologies with TFG: view

Drugs & Compounds for TFG Gene

(1) Drugs for TFG Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TFG: view

Transcripts for TFG Gene

Unigene Clusters for TFG Gene

TRK-fused gene:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for TFG Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a ·
SP1: - - - - -
SP2: - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - -
SP6: - - -
SP7: - - - -
SP8: - - -
SP9: - - - - - - - - -
SP10: - - - -
SP11: - -

ExUns: 10b ^ 11 ^ 12
SP4: -
SP5: -

Relevant External Links for TFG Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TFG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFG Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TFG Gene

This gene is overexpressed in Bone marrow stromal cell (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TFG Gene

Protein tissue co-expression partners for TFG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFG Gene:


SOURCE GeneReport for Unigene cluster for TFG Gene:


mRNA Expression by UniProt/SwissProt for TFG Gene:

Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for TFG Gene

  • Nervous system(4.9)
  • Pancreas(4.5)
  • Liver(4.4)
  • Lung(3)
  • Kidney(2.8)
  • Muscle(2.5)
  • Skin(2.5)
  • Thyroid gland(2.5)
  • Heart(2.2)
  • Blood(2.1)
  • Intestine(2.1)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TFG Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
  • thyroid
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
  • duodenum
  • intestine
  • kidney
  • liver
  • small intestine
  • pelvis
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TFG: view

Primer Products

No data available for mRNA differential expression in normal tissues for TFG Gene

Orthologs for TFG Gene

This gene was present in the common ancestor of chordates.

Orthologs for TFG Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TFG 34 35
  • 99.58 (n)
(Canis familiaris)
Mammalia TFG 34 35
  • 93.67 (n)
(Monodelphis domestica)
Mammalia -- 35
  • 93 (a)
-- 35
  • 85 (a)
(Bos Taurus)
Mammalia TFG 34 35
  • 92.5 (n)
-- 35
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia TFG 35
  • 89 (a)
(Rattus norvegicus)
Mammalia LOC102546978 34
  • 88.41 (n)
(Mus musculus)
Mammalia Tfg 34 16 35
  • 88.38 (n)
(Gallus gallus)
Aves TFG 34 35
  • 73.69 (n)
(Anolis carolinensis)
Reptilia TFG 35
  • 84 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tfg 34
  • 71.04 (n)
Str.2241 34
African clawed frog
(Xenopus laevis)
Amphibia tfg-prov 34
(Danio rerio)
Actinopterygii tfg 34 35
  • 62.14 (n)
wufb11c10 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3867 34
Species where no ortholog for TFG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TFG Gene

Gene Tree for TFG (if available)
Gene Tree for TFG (if available)

Paralogs for TFG Gene

(2) SIMAP similar genes for TFG Gene using alignment to 7 proteins: Pseudogenes for TFG Gene

genes like me logo Genes that share paralogs with TFG: view

No data available for Paralogs for TFG Gene

Variants for TFG Gene

Sequence variations from dbSNP and Humsavar for TFG Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs207482230 Pathogenic, Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO) [MIM:604484] 100,748,182(+) ACAAC(C/T)TCAGC reference, missense
rs587777175 Pathogenic, Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658] 100,728,759(+) ATCTC(C/T)GTCGA reference, missense
VAR_035668 A colorectal cancer sample
VAR_078075 Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658]
rs587777789 Pathogenic 100,744,917(+) GTATG(G/T)TATTC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for TFG Gene

Variant ID Type Subtype PubMed ID
dgv1397e212 CNV gain 25503493
dgv182e55 CNV gain 17911159
dgv183e55 CNV gain 17911159
dgv4830n100 CNV gain 25217958
dgv613n27 CNV gain 19166990
dgv614n27 CNV gain 19166990
dgv8476n54 CNV gain 21841781
dgv8479n54 CNV gain 21841781
dgv917e214 CNV gain 21293372
esv2751970 CNV gain 17911159
esv2763708 CNV gain 21179565
nsv460787 CNV gain 19166990
nsv470794 CNV gain 18288195
nsv516418 CNV gain 19592680
nsv591164 CNV gain 21841781

Variation tolerance for TFG Gene

Residual Variation Intolerance Score: 56.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TFG Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFG Gene

Disorders for TFG Gene

MalaCards: The human disease database

(18) MalaCards diseases for TFG Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hereditary motor and sensory neuropathy, okinawa type
  • neuropathy, hereditary motor and sensory, okinawa type
spastic paraplegia 57, autosomal recessive
  • hereditary spastic paraplegia 57
autosomal dominant charcot-marie-tooth disease type 2 due to tfg mutation
  • cmt2 due to tfg mutation
chondrosarcoma, extraskeletal myxoid
  • extraskeletal myxoid chondrosarcoma
spastic paraplegia 57
  • spastic paraplegia 57, autosomal recessive
- elite association - COSMIC cancer census association via MalaCards
Search TFG in MalaCards View complete list of genes associated with diseases


  • Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO) [MIM:604484]: A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis. {ECO:0000269 PubMed:22883144, ECO:0000269 PubMed:27813252}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=A chromosomal aberration involving TFG is found in papillary thyroid carcinomas (PTCs). Translocation t(1;3)(q21;q11) with NTRK1. The TFG sequence is fused to the 3-end of NTRK1 generating the TRKT3 (TRK-T3) fusion transcript. {ECO:0000269 PubMed:7565764}.
  • Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658]: A complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. {ECO:0000269 PubMed:23479643, ECO:0000269 PubMed:27813252}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TFG

Genetic Association Database (GAD)
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TFG: view

No data available for Genatlas for TFG Gene

Publications for TFG Gene

  1. Characterization and chromosomal mapping of the human TFG gene involved in thyroid carcinoma. (PMID: 9169129) Mencinger M. … Aman P. (Genomics 1997) 2 3 4 22 64
  2. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. (PMID: 23479643) Beetz C. … Audhya A. (Proc. Natl. Acad. Sci. U.S.A. 2013) 2 3 4 64
  3. The DNA rearrangement that generates the TRK-T3 oncogene involves a novel gene on chromosome 3 whose product has a potential coiled-coil domain. (PMID: 7565764) Greco A. … Pierotti M.A. (Mol. Cell. Biol. 1995) 3 4 22 64
  4. The calcium-binding protein ALG-2 promotes endoplasmic reticulum exit site localization and polymerization of Trk-fused gene (TFG) protein. (PMID: 27813252) Kanadome T. … Maki M. (FEBS J. 2017) 3 4 64
  5. The TRK-fused gene is mutated in hereditary motor and sensory neuropathy with proximal dominant involvement. (PMID: 22883144) Ishiura H. … Tsuji S. (Am. J. Hum. Genet. 2012) 3 4 64

Products for TFG Gene

Sources for TFG Gene

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