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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TBRG1
transforming growth factor beta regulator 1
Chromosome 11 Β· 11q24.2
NCBI Gene: 84897Ensembl: ENSG00000154144.14HGNC: HGNC:29551UniProt: Q3YBR2
28PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Tumor Suppressor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of cell cycleprotein bindingDNA replicationnegative regulation of cell population proliferationneurodegenerative diseasecomplex regional pain syndromeIntellectual disabilitycancer
✦AI Summary

TBRG1 (transforming growth factor beta regulator 1), also known as NIAM (nuclear interactor of ARF and MDM2), functions as a growth inhibitor and tumor suppressor that maintains chr11 stability 1. The protein acts through multiple mechanisms to activate p53, including disrupting p53-MDM2 interactions, inhibiting p53 polyubiquitination, and promoting p53 K120 acetylation through association with Tip60 2. TBRG1 contains a novel FYR domain with an alpha+beta fold structure that may be important for its chr11-associated functions 3. The protein causes G1 cell cycle arrest and collaborates with CDKN2A to restrict proliferation, though it can inhibit DNA synthesis independently of both ARF and p53 1. TBRG1 deficiency in mice results in chr11 instability and predisposition to proliferative lesions including B-cell lymphomas, with 50% of aged TBRG1-deficient mice developing tumors 4. Clinically, reduced TBRG1 expression has been observed in primary human tumors and is associated with poor prognosis in high-grade serous ovarian cancer 15. The gene has also been implicated as a candidate in autosomal recessive intellectual disability disorders 6.

Sources cited
1
TBRG1/NIAM functions as a growth inhibitor, maintains chromosomal stability, activates p53, and shows reduced expression in human tumors
PMID: 17110379
2
TBRG1 activates p53 through multiple mechanisms including disrupting p53-MDM2 interactions and promoting Tip60-mediated acetylation
PMID: 24621507
3
TBRG1 contains a novel FYR domain with alpha+beta fold structure
PMID: 20506279
4
TBRG1-deficient mice develop chromosomal instability and proliferative lesions including B-cell lymphomas
PMID: 25393878
5
TBRG1 downregulation is associated with poor prognosis in high-grade serous ovarian cancer
PMID: 32180586
6
TBRG1 variants are implicated in autosomal recessive intellectual disability disorders
PMID: 30167849
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.37Weak
complex regional pain syndromeOpen Targets
0.28Weak
Intellectual disabilityOpen Targets
0.26Weak
cancerOpen Targets
0.06Suggestive
B-cell non-Hodgkins lymphomaOpen Targets
0.05Suggestive
duodenal ulcerOpen Targets
0.05Suggestive
immunodeficiency 75Open Targets
0.04Suggestive
neoplasmOpen Targets
0.04Suggestive
acute erythroleukemiaOpen Targets
0.04Suggestive
erythroleukemia, familial, susceptibility toOpen Targets
0.04Suggestive
Li-Fraumeni syndromeOpen Targets
0.04Suggestive
familial atypical multiple mole melanoma syndromeOpen Targets
0.04Suggestive
NUT midline carcinomaOpen Targets
0.04Suggestive
immunodeficiency 84Open Targets
0.04Suggestive
hereditary neutrophiliaOpen Targets
0.04Suggestive
Mast Cell SarcomaOpen Targets
0.04Suggestive
autoimmune lymphoproliferative syndrome type 4Open Targets
0.04Suggestive
RAS-associated autoimmune leukoproliferative diseaseOpen Targets
0.04Suggestive
BAP1-related tumor predisposition syndromeOpen Targets
0.04Suggestive
immunodeficiency 76Open Targets
0.03Suggestive
Pathogenic Variants1
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr)Likely pathogenic
Intellectual disability
β˜†β˜†β˜†β˜†β†’ Residue 210
View on ClinVar β†—
Related Genes
RABL6Protein interaction77%BTG4Shared pathway40%CDKN3Shared pathway33%ZBTB49Shared pathway33%NUPR2Shared pathway29%PCLAFShared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
90%
Liver
83%
Brain
78%
Ovary
64%
Heart
56%
Gene Interaction Network
Click a node to explore
TBRG1RABL6BTG4CDKN3ZBTB49NUPR2PCLAF
PROTEIN STRUCTURE
Preparing viewer…
PDB2WZO Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.10LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.79 [0.58–1.10]
RankingsWhere TBRG1 stands among ~20K protein-coding genes
  • #12,460of 20,598
    Most Researched28
  • #5,281of 5,498
    Most Pathogenic Variants1
  • #11,185of 17,882
    Most Constrained (LOEUF)1.10
Genes detectedTBRG1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Identification of Hub Genes in High-Grade Serous Ovarian Cancer Using Weighted Gene Co-Expression Network Analysis.
PMID: 32180586
Med Sci Monit Β· 2020
1.00
2
The structure of the FYR domain of transforming growth factor beta regulator 1.
PMID: 20506279
Protein Sci Β· 2010
0.90
3
Global Gene Expression Profiling in Omental Adipose Tissue of Morbidly Obese Diabetic African Americans.
PMID: 26504501
J Endocrinol Metab Β· 2015
0.80
4
NIAM-deficient mice are predisposed to the development of proliferative lesions including B-cell lymphomas.
PMID: 25393878
PLoS One Β· 2014
0.70
5
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability.
PMID: 30167849
Hum Genet Β· 2018
0.60