Levels of Evidence
Actionable Genes
Oncology Therapies
CDx
Cancer Genes
API / License
About
News
FAQ
TGFBR2
Tumor Suppressor
Also known as TBR-ii, TBRII, MFS2
TGFBR2 encodes a receptor kinase that signals to downstream effectors in the TGFß signaling pathway. TGFBR2 is infrequently mutated in cancer; however, germline mutations in this gene are associated with Marfan syndrome and Loeys-Dietz syndrome.
Show TGFBR2 background
NCBI Gene
7048
Ensembl Gene
ENSG00000163513 (
GRCh37
/
GRCh38
)
Location
Chr3:30647994-30735634 (GRCh37)
Chr3:30606601-30694142 (GRCh38)
Ensembl Transcript
ENST00000295754 (
GRCh37
/
GRCh38
)
RefSeq
NM_003242.5
(GRCh37)
NM_003242.6
(GRCh38)
Annotated Mutations in
MSK-IMPACT™ Clinical Sequencing Cohort
(
Zehir et al., Nat Med 2017
)
7 Oncogenic
Cancer Types with TGFBR2 Mutations
Head and Neck Cancer
Pancreatic Cancer
Skin Cancer, Non-Melanoma
Bladder Cancer
Esophagogastric Cancer
Colorectal Cancer
Non-Small Cell Lung Cancer
Cancer of Unknown Primary
Germ Cell Tumor
Ovarian Cancer
Breast Cancer
Hepatobiliary Cancer
Renal Cell Carcinoma
Glioma
% altered
0.50
1.0
1.50
2.0
...
Annotated Alterations
A list of the oncogenic and mutation effects of
all OncoKB™ curated
TGFBR2 alterations.
If you notice any mistakes or omissions, please reach out to us.
Alteration
Oncogenic
Mutation Effect
Description
Deletion
Likely Oncogenic
Likely Loss-of-function
Truncating Mutations
Likely Oncogenic
Likely Loss-of-function
D379G
Likely Oncogenic
Loss-of-function
V419L
Likely Oncogenic
Likely Loss-of-function
P525L
Likely Oncogenic
Loss-of-function
E526Q
Likely Oncogenic
Loss-of-function
R537P
Likely Oncogenic
Likely Gain-of-function
Loading...
You must enable javascript to view this page.