TFG (trafficking from ER to golgi regulator)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10342
Gene name Trafficking from ER to golgi regulator
Gene symbol TFG
Synonyms (NCBI Gene)
HMSNPSPG57TF6TRKT3
Chromosome 3
Chromosome location 3q12.2
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. Mult
SNPs SNP information provided by dbSNP.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs111356679 C>G Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs207482230 C>T Pathogenic Coding sequence variant, missense variant
rs587777175 C>T Pathogenic Missense variant, coding sequence variant
rs587777789 G>A,T Pathogenic Missense variant, coding sequence variant
rs764959531 C>A,T Likely-pathogenic Coding sequence variant, synonymous variant, stop gained
miRNA miRNA information provided by mirtarbase database.
106
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (106)
miRTarBase ID miRNA Experiments Reference
MIRT004131 hsa-miR-192-5p Microarray 16822819
MIRT049807 hsa-miR-92a-3p CLASH 23622248
MIRT048315 hsa-miR-106a-5p CLASH 23622248
MIRT041287 hsa-miR-193b-3p CLASH 23622248
MIRT036854 hsa-miR-877-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16189514, 17110338, 21478858, 25416956, 25910212, 26871637, 27813252, 31515488, 32296183, 32814053, 35156780, 36012204
GO:0005737 Component Cytoplasm NAS 7565764
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602498 11758 ENSG00000114354
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q92734
Protein name Protein TFG (TRK-fused gene protein)
Protein function 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:
PDB 8TEQ , 8TER , 9E7C
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00564 PB1 10 → 93 PB1 domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence 
MNGQLDLSGKLIIKAQLGEDIRRIPIHNEDITYDELVLMMQRVFRGKLLSNDEVTIKYKD
EDGDLITIFDSSDLSFAIQCSRILKLTLFVNGQPRPLESSQVKYLRRELIELRNKVNRLL
DSLEPPGEPGPSTNIPENDTVDGREEKSASDSSGKQSTQVMAASMSAFDPLKNQDEINKN
VMSAFGLTDDQVSGPPSAPAEDRSGTPDSIASSSSAAHPPGVQPQQPPYTGAQTQAGQIE
GQMYQQYQQQAGYGAQQPQAPPQQPQQYGIQYSASYSQQTGPQQPQQFQGYGQQPTSQAP
APAFSGQPQQLPAQPPQQYQASNYPAQTYTAQTSQPTNYTVAPASQPGMAPSQPGAYQPR
PGFTSLPGSTMTPPPSGPNPYARNRPPFGQGYTQPGPGYR
Sequence length 400
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Pathways in cancer
Thyroid cancer 		  COPII-mediated vesicle transport
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
684
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic Lateral Sclerosis with Sensory Neuropathy Likely pathogenic; Pathogenic rs207482230 RCV001095428
Hereditary motor and sensory neuropathy, Okinawa type Pathogenic; Likely pathogenic rs587777175, rs989357227, rs587777789, rs207482230 RCV001038327
RCV002000010
RCV000144505
RCV000030736
Hereditary spastic paraplegia 57 Pathogenic; Likely pathogenic rs587777175, rs989357227, rs587777789, rs207482230 RCV000087273
RCV002000010
RCV004767089
RCV000642397
See cases Likely pathogenic; Pathogenic rs207482230 RCV002251934
Show/Hide Unknown Diseases (20)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs61230753, rs41272979 RCV005914546
RCV005900857
Cervical cancer Benign rs61230753, rs41272979 RCV005914549
RCV005900859
Charcot-Marie-Tooth disease Uncertain significance rs1559726842 RCV001027497
Cholangiocarcinoma Benign rs61230753, rs41272979 RCV005914558
RCV005900865
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amyotrophic Lateral Sclerosis 2 Juvenile Associate 27601211
Carcinogenesis Associate 31754244, 32239802
Carcinoma Hepatocellular Associate 29180379
Carcinoma Pancreatic Ductal Associate 32239802
Carcinoma Papillary Follicular Associate 25148236
Charcot Marie Tooth disease X linked recessive 2 Associate 32666699
Cholangiocarcinoma Associate 31754244
Cushing Syndrome Associate 36690805
Dysgerminoma Stimulate 21793190
Fasciculation Associate 30157421