PRO Term |
GO Annotation |
Evidence |
PR:000000057
hTGFBR2/var:G357W
Gly-357, CHEBI:29954
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
PR:000000051
hTGFBR2/var:R460H
Arg-460, CHEBI:29979
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
PR:000000050
hTGFBR2/var:L308P
Leu-308, CHEBI:50342
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15235604 |
enables |
NOT
GO:0005026 transforming growth factor beta receptor activity, type II
|
PMID:15235604 |
PR:P37173-2
hTGFBR2/iso:RII-2
|
acts_upstream_of_or_within |
GO:0008284 positive regulation of cell population proliferation
|
PMID:7959019 |
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PMID:7959019, PMID:8635485 |
enables |
GO:0050431 transforming growth factor beta binding
|
PMID:8635485 |
enables |
GO:0005026 transforming growth factor beta receptor activity, type II
|
PMID:7959019, PMID:8635485 |
PR:000000061
hTGFBR2/var:V387M
Val-387, CHEBI:16044
|
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PMID:11212236 |
enables |
GO:0005026 transforming growth factor beta receptor activity, type II
decreased relative to PR:000000409 TGFBR2/iso:RII-1/SigPep-
|
PMID:11212236 |
located_in |
GO:0016020 membrane
|
PMID:11212236 |
PR:000036408
hTGFBR2/iso:RII-1/SigPep-
|
acts_upstream_of_or_within |
GO:0007181 transforming growth factor beta receptor complex assembly
|
PMID:1310899, PMID:8774881 |
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PMID:11483955 |
enables |
GO:0005515 protein binding
with PR:000000634 TGFB3/iso:1/Clv:1
|
PMID:1850637 |
enables |
GO:0050431 transforming growth factor beta binding
|
PMID:11850637, PMID:1310899 |
enables |
GO:0005515 protein binding
with PR:000000616 TGFB1/iso:1/mature
|
PMID:1310899 |
enables |
GO:0005026 transforming growth factor beta receptor activity, type II
|
PMID:11483955 |
located_in |
GO:0016020 membrane
|
PMID:1310899 |
PR:000000056
hTGFBR2/var:R537C
Arg-537, CHEBI:29950
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15235604 |
enables |
NOT
GO:0005026 transforming growth factor beta receptor activity, type II
|
PMID:15235604 |
PR:Q62312-1
mTGFBR2/iso:RII-2
|
enables |
GO:0050431 transforming growth factor beta binding
|
PMID:7957954 |
located_in |
GO:0016020 membrane
|
PMID:7959019 |
PR:Q62312-2
mTGFBR2/iso:RII-1
|
located_in |
GO:0016020 membrane
|
PMID:7957954 |
PR:000000005
TGFBR2
|
acts_upstream_of_or_within |
GO:0006468 protein phosphorylation
|
PIRSF:PIRSF037393 |
acts_upstream_of_or_within |
GO:0042127 regulation of cell population proliferation
|
PIRSF:PIRSF037393 |
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PIRSF:PIRSF037393 |
enables |
GO:0005515 protein binding
|
PIRSF:PIRSF037393 |
enables |
GO:0004672 protein kinase activity
|
PIRSF:PIRSF037393 |
PR:000000062
hTGFBR2/var:N435S
Asn-435, CHEBI:29999
|
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PMID:11212236 |
enables |
GO:0005026 transforming growth factor beta receptor activity, type II
decreased relative to PR:000000409 TGFBR2/iso:RII-1/SigPep-
|
PMID:11212236 |
PR:000000063
hTGFBR2/var:V447A
Val-447, CHEBI:46217
|
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PMID:11212236 |
enables |
GO:0005026 transforming growth factor beta receptor activity, type II
decreased relative to PR:000000409 TGFBR2/iso:RII-1/SigPep-
|
PMID:11212236 |
located_in |
GO:0016020 membrane
|
PMID:11212236 |
PR:000000060
hTGFBR2/var:A355P
Ala-355, CHEBI:50342
|
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PMID:15731757 |
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
located_in |
GO:0016020 membrane
|
PMID:15731757 |
PR:000000054
hTGFBR2/var:R528C
Arg-528, CHEBI:29950
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
PR:000000053
hTGFBR2/var:E526Q
Glu-526, CHEBI:30011
|
associated_with_disease_progression |
DOID:3748 esophagus squamous cell carcinoma
|
PMID:10789724 |
enables |
NOT
GO:0005026 transforming growth factor beta receptor activity, type II
|
PMID:10789724 |
PR:000000052
hTGFBR2/var:R460C
Arg-460, CHEBI:29950
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
PR:000000064
hTGFBR2/var:S449F
Ser-449, CHEBI:29997
|
associated_with_disease_progression |
DOID: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
Leu-452, CHEBI:16044
|
acts_upstream_of_or_within |
GO:0007179 transforming growth factor beta receptor signaling pathway
|
PMID:11212236 |
enables |
GO:0005026 transforming growth factor beta receptor activity, type II
decreased relative to PR:000000409 TGFBR2/iso:RII-1/SigPep-
|
PMID:11212236 |
PR:000000055
hTGFBR2/var:R528H
Arg-528, CHEBI:29979
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
PR:000000059
hTGFBR2/var:Y336N
Tyr-336, CHEBI:50347
|
associated_with_disease_progression |
DOID:0050466 Loeys-Dietz syndrome
|
PMID:15731757 |
PR:000000058
hTGFBR2/var:T315M
Thr-315, CHEBI:16044
|
acts_upstream_of_or_within |
GO:0008284 positive regulation of cell population proliferation
|
PMID:9590282 |
associated_with_disease_progression |
DOID:3883 Lynch syndrome
|
PMID:9590282 |
|