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TFG trafficking from ER to golgi regulator [ Homo sapiens (human) ]

Gene ID: 10342, updated on 7-Apr-2024

Summary

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Official Symbol
TFGprovided by HGNC
Official Full Name
trafficking from ER to golgi regulatorprovided by HGNC
Primary source
HGNC:HGNC:11758
See related
Ensembl:ENSG00000114354 MIM:602498; AllianceGenome:HGNC:11758
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TF6; HMSNP; SPG57; TRKT3
Summary
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]
Expression
Ubiquitous expression in duodenum (RPKM 35.2), placenta (RPKM 33.3) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See TFG in Genome Data Viewer
Location:
3q12.2
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (100709290..100748967)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (103415045..103454716)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (100428134..100467811)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14573 Neighboring gene transmembrane protein 45A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:100280470-100281334 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20161 Neighboring gene adhesion G protein-coupled receptor G7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20162 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20163 Neighboring gene glia maturation factor beta pseudogene 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:100427906-100428797 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:100428798-100429688 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:100456051-100456928 Neighboring gene uncharacterized LOC124906260 Neighboring gene ABI family member 3 binding protein Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63759 Neighboring gene Sharpr-MPRA regulatory region 7106 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63902 Neighboring gene ABRAXAS1 pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration. Chen X, et al. CNS Neurosci Ther, 2022 Dec. PMID 35986567, Free PMC Article
  2. Mutation Screening of TFG in α-Synucleinopathy and Amyotrophic Lateral Sclerosis. Li C, et al. Mov Disord, 2022 Aug. PMID 35642252
  3. A Novel TFG Mutation in a Korean Family with α-Synucleinopathy and Amyotrophic Lateral Sclerosis. Yoo D, et al. Mov Disord, 2022 Feb. PMID 34779525
  4. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature. Khorrami M, et al. J Hum Genet, 2021 Oct. PMID 33767317
  5. A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2. Wu DW, et al. Brain Behav, 2020 Sep. PMID 32666699, Free PMC Article

See all (138) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
    Title: Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy.
  2. TFG::MET-rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low-grade triphasic morphology.
    Title: TFG::MET-rearranged soft tissue tumor: A rare infantile neoplasm with a distinct low-grade triphasic morphology.
  3. TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.
    Title: TFG mutation induces haploinsufficiency and drives axonal Charcot-Marie-Tooth disease by causing neurite degeneration.
  4. Mutation Screening of TFG in alpha-Synucleinopathy and Amyotrophic Lateral Sclerosis.
    Title: Mutation Screening of TFG in α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
  5. A Novel TFG Mutation in a Korean Family with alpha-Synucleinopathy and Amyotrophic Lateral Sclerosis.
    Title: A Novel TFG Mutation in a Korean Family with α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
  6. Deregulation of CLTC interacts with TFG, facilitating osteosarcoma via the TGF-beta and AKT/mTOR signaling pathways.
    Title: Deregulation of CLTC interacts with TFG, facilitating osteosarcoma via the TGF-beta and AKT/mTOR signaling pathways.
  7. Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
    Title: Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature.
  8. TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
    Title: TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
  9. A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.
    Title: A novel TFG c.793C>G mutation in a Chinese pedigree with Charcot-Marie-Tooth disease 2.
  10. TFG-maintaining stability of overlooked FANCD2 confers early DNA-damage response.
    Title: TFG-maintaining stability of overlooked FANCD2 confers early DNA-damage response.
Submit: New GeneRIF Correction See all GeneRIFs (37)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary motor and sensory neuropathy, Okinawa type
MedGen: C1858338 OMIM: 604484 GeneReviews: Not available
Compare labs
Hereditary spastic paraplegia 57
MedGen: C3714897 OMIM: 615658 GeneReviews: Not available
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ36137

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables identical protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in COPII vesicle coating IEA
Inferred from Electronic Annotation
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of canonical NF-kappaB signal transduction HMP PubMed 
Component Evidence Code Pubs
located_in cytoplasm NAS
Non-traceable Author Statement
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
is_active_in endoplasmic reticulum exit site IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in endoplasmic reticulum exit site IDA
Inferred from Direct Assay
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  

General protein information

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Preferred Names
protein TFG
Names
TRK-fused
TRK-fused gene protein
TRKT3 oncogene

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_027821.2 RefSeqGene

    Range
    5205..44675
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001007565.2 → NP_001007566.1  protein TFG isoform 1

    See identical proteins and their annotated locations for NP_001007566.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AC069223, BQ008360, DA704111
    Consensus CDS
    CCDS2939.1
    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2
    UniProtKB/TrEMBL
    Q7Z426
    Related
    ENSP00000419960.1, ENST00000490574.6
    Conserved Domains (2) summary
    cd06401
    Location:11 → 91
    PB1_TFG; The PB1 domain found in TFG protein, an oncogenic gene product and fusion partner to nerve growth factor tyrosine kinase receptor TrkA and to the tyrosine kinase ALK. The PB1 domain is a modular domain mediating specific protein-protein interaction in ...
    cl28271
    Location:325 → 400
    dnaA; chromosomal replication initiation protein; Provisional

  2. NM_001195478.2 → NP_001182407.1  protein TFG isoform 1

    See identical proteins and their annotated locations for NP_001182407.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. Variants 1, 2, and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AC069223, BC001483
    Consensus CDS
    CCDS2939.1
    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2
    UniProtKB/TrEMBL
    Q7Z426
    Related
    ENSP00000501815.1, ENST00000675553.1
    Conserved Domains (2) summary
    cd06401
    Location:11 → 91
    PB1_TFG; The PB1 domain found in TFG protein, an oncogenic gene product and fusion partner to nerve growth factor tyrosine kinase receptor TrkA and to the tyrosine kinase ALK. The PB1 domain is a modular domain mediating specific protein-protein interaction in ...
    cl28271
    Location:325 → 400
    dnaA; chromosomal replication initiation protein; Provisional

  3. NM_001195479.2 → NP_001182408.1  protein TFG isoform 2

    See identical proteins and their annotated locations for NP_001182408.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) utilizes an alternate splice site in the coding region, compared to variant 1. Isoform 2 is shorter than isoform 1.
    Source sequence(s)
    AC069223, BC009241, BC041600
    Consensus CDS
    CCDS56266.1
    UniProtKB/TrEMBL
    Q7Z426
    Related
    ENSP00000501892.1, ENST00000674645.1
    Conserved Domains (2) summary
    cd06401
    Location:11 → 91
    PB1_TFG; The PB1 domain found in TFG protein, an oncogenic gene product and fusion partner to nerve growth factor tyrosine kinase receptor TrkA and to the tyrosine kinase ALK. The PB1 domain is a modular domain mediating specific protein-protein interaction in ...
    cl28271
    Location:321 → 396
    dnaA; chromosomal replication initiation protein; Provisional

  4. NM_006070.6 → NP_006061.2  protein TFG isoform 1

    See identical proteins and their annotated locations for NP_006061.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript, Variants 1, 2, and 3 encode the same protein (isoform 1).
    Source sequence(s)
    AK093456, BC009241
    Consensus CDS
    CCDS2939.1
    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2
    UniProtKB/TrEMBL
    Q7Z426
    Related
    ENSP00000240851.4, ENST00000240851.9
    Conserved Domains (2) summary
    cd06401
    Location:11 → 91
    PB1_TFG; The PB1 domain found in TFG protein, an oncogenic gene product and fusion partner to nerve growth factor tyrosine kinase receptor TrkA and to the tyrosine kinase ALK. The PB1 domain is a modular domain mediating specific protein-protein interaction in ...
    cl28271
    Location:325 → 400
    dnaA; chromosomal replication initiation protein; Provisional

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    100709290..100748967
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005247066.3 → XP_005247123.1  protein TFG isoform X2

    See identical proteins and their annotated locations for XP_005247123.1

    UniProtKB/TrEMBL
    Q7Z426
    Related
    ENSP00000502497.1, ENST00000675047.1
    Conserved Domains (2) summary
    cd06401
    Location:11 → 91
    PB1_TFG; The PB1 domain found in TFG protein, an oncogenic gene product and fusion partner to nerve growth factor tyrosine kinase receptor TrkA and to the tyrosine kinase ALK. The PB1 domain is a modular domain mediating specific protein-protein interaction in ...
    cl28271
    Location:321 → 396
    dnaA; chromosomal replication initiation protein; Provisional

  2. XM_006713472.2 → XP_006713535.1  protein TFG isoform X1

    See identical proteins and their annotated locations for XP_006713535.1

    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2
    UniProtKB/TrEMBL
    Q7Z426
    Related
    ENSP00000502071.1, ENST00000676395.1
    Conserved Domains (2) summary
    cd06401
    Location:11 → 91
    PB1_TFG; The PB1 domain found in TFG protein, an oncogenic gene product and fusion partner to nerve growth factor tyrosine kinase receptor TrkA and to the tyrosine kinase ALK. The PB1 domain is a modular domain mediating specific protein-protein interaction in ...
    cl28271
    Location:325 → 400
    dnaA; chromosomal replication initiation protein; Provisional

  3. XM_017005527.2 → XP_016861016.1  protein TFG isoform X2

    UniProtKB/TrEMBL
    Q7Z426
    Related
    ENSP00000419504.2, ENST00000463568.6
    Conserved Domains (2) summary
    cd06401
    Location:11 → 91
    PB1_TFG; The PB1 domain found in TFG protein, an oncogenic gene product and fusion partner to nerve growth factor tyrosine kinase receptor TrkA and to the tyrosine kinase ALK. The PB1 domain is a modular domain mediating specific protein-protein interaction in ...
    cl28271
    Location:321 → 396
    dnaA; chromosomal replication initiation protein; Provisional

  4. XM_047447243.1 → XP_047303199.1  protein TFG isoform X2

    Related
    ENSP00000502698.1, ENST00000676431.1

  5. XM_047447241.1 → XP_047303197.1  protein TFG isoform X1

    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2

  6. XM_011512334.2 → XP_011510636.1  protein TFG isoform X1

    See identical proteins and their annotated locations for XP_011510636.1

    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2
    UniProtKB/TrEMBL
    Q7Z426
    Related
    ENSP00000420797.2, ENST00000487505.6
    Conserved Domains (2) summary
    cd06401
    Location:11 → 91
    PB1_TFG; The PB1 domain found in TFG protein, an oncogenic gene product and fusion partner to nerve growth factor tyrosine kinase receptor TrkA and to the tyrosine kinase ALK. The PB1 domain is a modular domain mediating specific protein-protein interaction in ...
    cl28271
    Location:325 → 400
    dnaA; chromosomal replication initiation protein; Provisional

  7. XM_047447242.1 → XP_047303198.1  protein TFG isoform X2

  8. XM_047447244.1 → XP_047303200.1  protein TFG isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    103415045..103454716
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054344922.1 → XP_054200897.1  protein TFG isoform X2

  2. XM_054344919.1 → XP_054200894.1  protein TFG isoform X1

    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2

  3. XM_054344923.1 → XP_054200898.1  protein TFG isoform X2

  4. XM_054344925.1 → XP_054200900.1  protein TFG isoform X2

  5. XM_054344920.1 → XP_054200895.1  protein TFG isoform X1

    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2

  6. XM_054344921.1 → XP_054200896.1  protein TFG isoform X1

    UniProtKB/Swiss-Prot
    D3DN49, G5E9V1, K0J5S8, K0J6K2, Q92734, Q969I2

  7. XM_054344924.1 → XP_054200899.1  protein TFG isoform X2

  8. XM_054344926.1 → XP_054200901.1  protein TFG isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q92734.2 GenPept UniProtKB/Swiss-Prot:Q92734

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