Gene Gene information from NCBI Gene database.
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
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
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
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.
MIM HGNC e!Ensembl
602498 11758 ENSG00000114354
Protein Protein information from UniProt database.
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
EDGDLITIFDSSDLSFAIQCSRILKLTLFVNGQ
PRPLESSQVKYLRRELIELRNKVNRLL
DSLEPPGEPGPSTNIPENDTVDGREEKSASDSSGKQSTQVMAASMSAFDPLKNQDEINKN
VMSAFGLTDDQVSGPPSAPAEDRSGTPDSIASSSSAAHPPGVQPQQPPYTGAQTQAGQIE
GQMYQQYQQQAGYGAQQPQAPPQQPQQYGIQYSASYSQQTGPQQPQQFQGYGQQPTSQAP
APAFSGQPQQLPAQPPQQYQASNYPAQTYTAQTSQPTNYTVAPASQPGMAPSQPGAYQPR
PGFTSLPGSTMTPPPSGPNPYARNRPPFGQGYTQPGPGYR
Sequence length 400
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Pathways in cancer
Thyroid cancer
  COPII-mediated vesicle transport
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
30
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Amyotrophic Lateral Sclerosis with Sensory Neuropathy Likely pathogenic; Pathogenic rs207482230 RCV001095428
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary motor and sensory neuropathy, Okinawa type Pathogenic; Likely pathogenic rs587777175, rs989357227, rs587777789, rs207482230 RCV001038327
RCV002000010
RCV000144505
RCV000030736
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary spastic paraplegia 57 Pathogenic; Likely pathogenic rs587777175, rs989357227, rs587777789, rs207482230 RCV000087273
RCV002000010
RCV004767089
RCV000642397
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2 DUE TO TFG MUTATION Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 57 Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Coronary Syndrome Coronary Syndrome BEFREE 30003432
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis 2 Juvenile Amyotrophic lateral sclerosis Pubtator 27601211 Associate
★☆☆☆☆
Found in Text Mining only
Anaplastic astrocytoma Anaplastic Astrocytoma BEFREE 18093335
★☆☆☆☆
Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation Charcot-Marie-Tooth Disease Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal recessive spastic paraplegia type 57 Spastic Paraplegia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Breast Carcinoma Breast Carcinoma BEFREE 12680217
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 31754244, 32239802 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 22240197
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 29180379 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 32239802 Associate
★☆☆☆☆
Found in Text Mining only