Gene Gene information from NCBI Gene database.
Entrez ID 84897
Gene name Transforming growth factor beta regulator 1
Gene symbol TBRG1
Synonyms (NCBI Gene)
NIAMTB-5
Chromosome 11
Chromosome location 11q24.2
miRNA miRNA information provided by mirtarbase database.
642
miRTarBase ID miRNA Experiments Reference
MIRT031449 hsa-miR-16-5p Sequencing 20371350
MIRT042360 hsa-miR-484 CLASH 23622248
MIRT179439 hsa-miR-8066 PAR-CLIP 20371350
MIRT179428 hsa-miR-1265 PAR-CLIP 20371350
MIRT179436 hsa-miR-4698 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17110379, 32296183, 32814053, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 17110379
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610614 29551 ENSG00000154144
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q3YBR2
Protein name Transforming growth factor beta regulator 1 (Nuclear interactor of ARF and Mdm2)
Protein function Acts as a growth inhibitor. Can activate p53/TP53, causes G1 arrest and collaborates with CDKN2A to restrict proliferation, but does not require either protein to inhibit DNA synthesis. Redistributes CDKN2A into the nucleoplasm. Involved in main
PDB 2WZO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05964 FYRN 188 238 F/Y-rich N-terminus Family
PF05965 FYRC 244 325 F/Y rich C-terminus Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed at low levels in most tissues, with highest levels in pancreas, lung and liver. Expression is decreased in primary tumors including lung, liver, breast, pancreas and kidney carcinomas, chronic lymphocytic leukemia and
Sequence
MSLLDGLASSPRAPLQSSKARMKKLPKKSQNEKYRLKYLRLRKAAKATVFENAAICDEIA
RLEEKFLKAKEERRYLLKKLLQLQALTEGEVQAAAPSHSSSLPLTYGVASSVGTIQGAGP
ISGPSTGAEEPFGKKTKKEKKEKGKENNKLEVLKKTCKKKKMAGGARKLVQPIALDPSGR
PVFPIGLGGLTVYSLGEIITDRPGFHDESAIYPVGYCSTRIYASMKCPDQKCLYTCQIKD
GGVQPQFEIVPEDDPQNAIVSSSADACHAELLRTISTTMGKLMPNLLPAGADFFGFSHPA
IHNLIQSCPGARKCINYQWVKFDVC
KPGDGQLPEGLPENDAAMSFEAFQRQIFDEDQNDP
LLPGSLDLPELQPAAFVSSYQPMYLTHEPLVDTHLQHLKSPSQGSPIQSSD
Sequence length 411
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
Intellectual disability Likely pathogenic rs758546717 RCV001291085
★★★★☆
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
Thyroid cancer, nonmedullary, 1 Uncertain significance 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
Acromicric dysplasia Acromesomelic dysplasia Pubtator 23133647, 38458756 Associate
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 25393878
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23133647 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 25393878, 26497687
★☆☆☆☆
Found in Text Mining only
Benign Neoplasm Benign Neoplasm BEFREE 25393878
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 26497687 Associate
★☆☆☆☆
Found in Text Mining only
Gaucher Disease Gaucher disease Pubtator 21683322 Associate
★☆☆☆☆
Found in Text Mining only
Growth Disorders Growth disorder Pubtator 21683322 Associate
★☆☆☆☆
Found in Text Mining only
Hemangioma Hemangioma BEFREE 25393878
★☆☆☆☆
Found in Text Mining only
Marfan Syndrome Marfan syndrome Pubtator 38458756 Associate
★☆☆☆☆
Found in Text Mining only