PRO Term |
GO Annotation |
Evidence |
PR:000000050 hTGFBR2/var:L308P UniProtKB:P37173, Leu-308, CHEBI:50342 | UniProtKB:P37173-1, Leu-308, CHEBI:50342 | TGF-beta receptor type-2 sequence variant 1 (human) "A TGF-beta receptor type-2 (human) that has a Pro residue at the position equivalent to Leu-308 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Leu-308, CHEBI:50342." [PMID:15235604, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Arg-460, CHEBI:29979 | UniProtKB:P37173-1, Arg-460, CHEBI:29979 | TGF-beta receptor type-2 sequence variant 10 (human) "A TGF-beta receptor type-2 (human) that has a His residue at the position equivalent to Arg-460 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Arg-460, CHEBI:29979." [PMID:15731757, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000052 hTGFBR2/var:R460C UniProtKB:P37173, Arg-460, CHEBI:29950 | UniProtKB:P37173-1, Arg-460, CHEBI:29950 | TGF-beta receptor type-2 sequence variant 11 (human) "A TGF-beta receptor type-2 (human) that has a Cys residue at the position equivalent to Arg-460 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Arg-460, CHEBI:29950." [PMID:15731757, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000053 hTGFBR2/var:E526Q UniProtKB:P37173, Glu-526, CHEBI:30011 | UniProtKB:P37173-1, Glu-526, CHEBI:30011 | TGF-beta receptor type-2 sequence variant 12 (human) "A TGF-beta receptor type-2 (human) that has a Gln residue at the position equivalent to Glu-526 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Glu-526, CHEBI:30011." [PMID:10789724, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Arg-528, CHEBI:29950 | UniProtKB:P37173-1, Arg-528, CHEBI:29950 | TGF-beta receptor type-2 sequence variant 13 (human) "A TGF-beta receptor type-2 (human) that has a Cys residue at the position equivalent to Arg-528 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Arg-528, CHEBI:29950." [PMID:15731757, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000055 hTGFBR2/var:R528H UniProtKB:P37173, Arg-528, CHEBI:29979 | UniProtKB:P37173-1, Arg-528, CHEBI:29979 | TGF-beta receptor type-2 sequence variant 14 (human) "A TGF-beta receptor type-2 (human) that has a His residue at the position equivalent to Arg-528 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Arg-528, CHEBI:29979." [PMID:15731757, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000056 hTGFBR2/var:R537C UniProtKB:P37173, Arg-537, CHEBI:29950 | UniProtKB:P37173-1, Arg-537, CHEBI:29950 | TGF-beta receptor type-2 sequence variant 15 (human) "A TGF-beta receptor type-2 (human) that has a Cys residue at the position equivalent to Arg-537 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Arg-537, CHEBI:29950." [PMID:15235604, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Gly-357, CHEBI:29954 | UniProtKB:P37173-1, Gly-357, CHEBI:29954 | TGF-beta receptor type-2 sequence variant 16 (human) "A TGF-beta receptor type-2 (human) that has a Trp residue at the position equivalent to Gly-357 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Gly-357, CHEBI:29954." [PMID:15731757, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000058 hTGFBR2/var:T315M UniProtKB:P37173, Thr-315, CHEBI:16044 | UniProtKB:P37173-1, Thr-315, CHEBI:16044 | TGF-beta receptor type-2 sequence variant 2 (human) "A TGF-beta receptor type-2 (human) that has a Met residue at the position equivalent to Thr-315 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Thr-315, CHEBI:16044." [PMID:9590282, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Tyr-336, CHEBI:50347 | UniProtKB:P37173-1, Tyr-336, CHEBI:50347 | TGF-beta receptor type-2 sequence variant 3 (human) "A TGF-beta receptor type-2 (human) that has an Asn residue at the position equivalent to Tyr-336 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Tyr-336, CHEBI:50347." [PMID:15731757, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050466 Loeys-Dietz syndrome |
PMID:15731757 |
PR:000000060 hTGFBR2/var:A355P UniProtKB:P37173, Ala-355, CHEBI:50342 | UniProtKB:P37173-1, Ala-355, CHEBI:50342 | TGF-beta receptor type-2 sequence variant 4 (human) "A TGF-beta receptor type-2 (human) that has a Pro residue at the position equivalent to Ala-355 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Ala-355, CHEBI:50342." [PMID:15731757, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Val-387, CHEBI:16044 | UniProtKB:P37173-1, Val-387, CHEBI:16044 | TGF-beta receptor type-2 sequence variant 5 (human) "A TGF-beta receptor type-2 (human) that has a Met residue at the position equivalent to Val-387 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Val-387, CHEBI:16044." [PMID:11212236, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Asn-435, CHEBI:29999 | UniProtKB:P37173-1, Asn-435, CHEBI:29999 | TGF-beta receptor type-2 sequence variant 6 (human) "A TGF-beta receptor type-2 (human) that has a Ser residue at the position equivalent to Asn-435 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Asn-435, CHEBI:29999." [PMID:11212236, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Val-447, CHEBI:46217 | UniProtKB:P37173-1, Val-447, CHEBI:46217 | TGF-beta receptor type-2 sequence variant 7 (human) "A TGF-beta receptor type-2 (human) that has an Ala residue at the position equivalent to Val-447 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Val-447, CHEBI:46217." [PMID:11212236, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Ser-449, CHEBI:29997 | UniProtKB:P37173-1, Ser-449, CHEBI:29997 | TGF-beta receptor type-2 sequence variant 8 (human) "A TGF-beta receptor type-2 (human) that has a Phe residue at the position equivalent to Ser-449 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Ser-449, CHEBI:29997." [PMID:15235604, PRO:CNA, PRO:DAN] |
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 UniProtKB:P37173, Leu-452, CHEBI:16044 | UniProtKB:P37173-1, Leu-452, CHEBI:16044 | TGF-beta receptor type-2 sequence variant 9 (human) "A TGF-beta receptor type-2 (human) that has a Met residue at the position equivalent to Leu-452 of the amino acid sequence represented by UniProtKB:P37173-1. Example: UniProtKB:P37173-1, Leu-452, CHEBI:16044." [PMID:11212236, PRO:CNA, PRO:DAN] |
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 | hTGFBR2/iso:1/SigPep- | PRO_0000024426 | TGF-beta receptor type-2 isoform 1, signal peptide removed form (human) "A TGF-beta receptor type-2 isoform RII-1, signal peptide removed form in human. UniProtKB:P37173-1, 23-567." [PMID:11483955, PMID:11850637, PMID:1310899, PMID:1850637, PMID:8774881, PRO:CNA] |
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 TGF-beta receptor type-2 isoform 2 (human) | TGFBR2 isoform 2 (human) "A TGF-beta receptor type-2 isoform RII-2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P37173] |
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 |