Terms by PRO Category
Retrieve All terms OBO Stanza
/ PAF
Organism-Specific
Category
Number of Terms
organism-gene
1
organism-sequence
19
organism-modification
3
Term Hierarchy Visualization
DAG
OLS
Cytoscape
hTGFBR2 forms found in complexes
hTGFBR2 Component
Complexes
PR:000025962 hTGFBR2/iso:RII-1/SigPep-/Phos:1
PR:000025963 transforming growth factor beta type II receptor homodimeric complex phosphorylated form (human)
Functional Annotation
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:0005026 transforming growth factor beta receptor activity, type II
PMID:7959019 , PMID:8635485
enables
GO:0050431 transforming growth factor beta binding
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:000000616 TGFB1/iso:1/mature
PMID:1310899
enables
GO:0005515 protein binding
with PR:000000634 TGFB3/iso:1/Clv:1
PMID:1850637
enables
GO:0005026 transforming growth factor beta receptor activity, type II
PMID:11483955
enables
GO:0050431 transforming growth factor beta binding
PMID:11850637 , PMID:1310899
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:000000005
TGFBR2
acts_upstream_of_or_within
GO:0006468 protein phosphorylation
PIRSF:PIRSF037393
acts_upstream_of_or_within
GO:0007179 transforming growth factor beta receptor signaling pathway
PIRSF:PIRSF037393
acts_upstream_of_or_within
GO:0042127 regulation of cell population proliferation
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
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