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

    Gene ID: 10342, updated on 2-Nov-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (100709290..100748967)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (103415045..103454716)
    RS_2024_09 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 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. A novel TFG mutation causes Charcot-Marie-Tooth disease type 2 and impairs TFG function. Tsai PC, et al. Neurology, 2014 Sep 2. PMID 25098539
    2. 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
    3. 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
    4. Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot-Marie-Tooth patients with TFG mutation. Khani M, et al. Am J Med Genet A, 2019 Aug. PMID 31111683
    5. Tropomyosin-receptor kinase fused gene (TFG) regulates lipid production in human sebocytes. Choi SR, et al. Sci Rep, 2019 Apr 29. PMID 31036933, Free PMC Article

    See all (149) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
      Title: Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.
    2. Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
      Title: Hereditary motor sensory neuropathy with proximal involvement (HMSN-P) associated with TFG p.Pro285Leu variant in an Italian family with a motor neuron disease-like clinical picture.
    3. 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.
    4. 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.
    5. 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.
    6. Mutation Screening of TFG in alpha-Synucleinopathy and Amyotrophic Lateral Sclerosis.
      Title: Mutation Screening of TFG in α-Synucleinopathy and Amyotrophic Lateral Sclerosis.
    7. 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.
    8. 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.
    9. 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.
    10. TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
      Title: TFG binds LC3C to regulate ULK1 localization and autophagosome formation.
    Submit: New GeneRIF Correction See all GeneRIFs (39)

    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_2024_08

    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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