| PRO Term |
GO Annotation |
Evidence |
PR:000000050 hTGFBR2/var:L308P Example: UniProtKB:P37173-1, Leu-308, CHEBI:50342 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15235604 |
| enables | NOT GO:0005026 transforming growth factor beta receptor activity, type II |
PMID:15235604 |
PR:000000051 hTGFBR2/var:R460H Example: UniProtKB:P37173-1, Arg-460, CHEBI:29979 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000052 hTGFBR2/var:R460C Example: UniProtKB:P37173-1, Arg-460, CHEBI:29950 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000053 hTGFBR2/var:E526Q Example: UniProtKB:P37173-1, Glu-526, CHEBI:30011 |
associated_with_disease_progression | DO:3748 esophagus squamous cell carcinoma |
PMID:10789724 |
| enables | NOT GO:0005026 transforming growth factor beta receptor activity, type II |
PMID:10789724 |
PR:000000054 hTGFBR2/var:R528C Example: UniProtKB:P37173-1, Arg-528, CHEBI:29950 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000055 hTGFBR2/var:R528H Example: UniProtKB:P37173-1, Arg-528, CHEBI:29979 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000056 hTGFBR2/var:R537C Example: UniProtKB:P37173-1, Arg-537, CHEBI:29950 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15235604 |
| enables | NOT GO:0005026 transforming growth factor beta receptor activity, type II |
PMID:15235604 |
PR:000000057 hTGFBR2/var:G357W Example: UniProtKB:P37173-1, Gly-357, CHEBI:29954 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000058 hTGFBR2/var:T315M Example: UniProtKB:P37173-1, Thr-315, CHEBI:16044 |
acts_upstream_of_or_within | GO:0008284 positive regulation of cell population proliferation |
PMID:9590282 |
| associated_with_disease_progression | DO:3883 Lynch syndrome |
PMID:9590282 |
PR:000000059 hTGFBR2/var:Y336N Example: UniProtKB:P37173-1, Tyr-336, CHEBI:50347 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000060 hTGFBR2/var:A355P Example: UniProtKB:P37173-1, Ala-355, CHEBI:50342 |
acts_upstream_of_or_within | GO:0007179 transforming growth factor beta receptor signaling pathway |
PMID:15731757 |
| associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
| located_in | GO:0016020 membrane |
PMID:15731757 |
PR:000000061 hTGFBR2/var:V387M Example: UniProtKB:P37173-1, Val-387, CHEBI:16044 |
acts_upstream_of_or_within | GO:0007179 transforming growth factor beta receptor signaling pathway |
PMID:11212236 |
| enables | decreased GO:0005026 transforming growth factor beta receptor activity, type II relative to PR:000000409 TGF-beta receptor type-2 isoform 1 cleaved 1 |
PMID:11212236 |
| located_in | GO:0016020 membrane |
PMID:11212236 |
PR:000000062 hTGFBR2/var:N435S Example: UniProtKB:P37173-1, Asn-435, CHEBI:29999 |
acts_upstream_of_or_within | GO:0007179 transforming growth factor beta receptor signaling pathway |
PMID:11212236 |
| enables | decreased GO:0005026 transforming growth factor beta receptor activity, type II relative to PR:000000409 TGF-beta receptor type-2 isoform 1 cleaved 1 |
PMID:11212236 |
PR:000000063 hTGFBR2/var:V447A Example: UniProtKB:P37173-1, Val-447, CHEBI:46217 |
acts_upstream_of_or_within | GO:0007179 transforming growth factor beta receptor signaling pathway |
PMID:11212236 |
| enables | decreased GO:0005026 transforming growth factor beta receptor activity, type II relative to PR:000000409 TGF-beta receptor type-2 isoform 1 cleaved 1 |
PMID:11212236 |
| located_in | GO:0016020 membrane |
PMID:11212236 |
PR:000000064 hTGFBR2/var:S449F Example: UniProtKB:P37173-1, Ser-449, CHEBI:29997 |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15235604 |
| enables | NOT GO:0005026 transforming growth factor beta receptor activity, type II |
PMID:15235604 |
PR:000000065 hTGFBR2/var:L452M Example: UniProtKB:P37173-1, Leu-452, CHEBI:16044 |
acts_upstream_of_or_within | GO:0007179 transforming growth factor beta receptor signaling pathway |
PMID:11212236 |
| enables | decreased GO:0005026 transforming growth factor beta receptor activity, type II relative to PR:000000409 TGF-beta receptor type-2 isoform 1 cleaved 1 |
PMID:11212236 |
PR:000036408 hTGFBR2/iso:RII-1/SigPep- UniProtKB:P37173-1, 23-567 |
acts_upstream_of_or_within | GO:0007179 transforming growth factor beta receptor signaling pathway |
PMID:11483955 |
| GO:0007181 transforming growth factor beta receptor complex assembly |
PMID:1310899; PMID:8774881 |
| enables | GO:0005026 transforming growth factor beta receptor activity, type II |
PMID:11483955 |
| GO:0005515 protein binding with PR:000000634 TGFB3/iso:1/Clv:1 |
PMID:1850637 |
| GO:0005515 protein binding |
PMID:1850637 |
| GO:0050431 transforming growth factor beta binding |
PMID:11850637; PMID:1310899 |
| located_in | GO:0016020 membrane |
PMID:1310899 |
| PR:P37173-2 hTGFBR2/iso:RII-2 |
acts_upstream_of_or_within | GO:0007179 transforming growth factor beta receptor signaling pathway |
PMID:7959019; PMID:8635485 |
| GO:0008284 positive regulation of cell population proliferation |
PMID:7959019 |
| enables | GO:0005026 transforming growth factor beta receptor activity, type II |
PMID:7959019; PMID:8635485 |
| GO:0050431 transforming growth factor beta binding |
PMID:8635485 |