| PRO Term |
GO Annotation |
Evidence |
PR:000000007 TGFBR2
"A protein that is a translation product of an evolutionary-related gene with core domain composition consisting of an extracellular Activin types I and II receptor domain (Pfam:PF01064), a transmembrane domain, and a Protein kinase domain (Pfam:PF00069). The transforming growth factor-beta (TGF-beta) superfamily of receptors comprises two groups of transmembrane serine-threonine kinase receptors, so called type-1, and type-2 receptors, that are activated following engagement by members of the TGF-beta superfamily of ligands. These events specify diverse downstream responses that are differentially regulated by controlling access and activation of the ligands, their receptors and downstream substrates in different cell types." [PRO:CNA] |
acts_upstream_of_or_within | GO:0006468 protein phosphorylation |
PIRSF:PIRSF000627 |
| GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway |
PIRSF:PIRSF000627 |
| enables | GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PIRSF:PIRSF000627 |
| GO:0005515 protein binding |
PIRSF:PIRSF000627 |
PR:000000037 BMPR2
PPH1 | BMP type II receptor | BMP type-2 receptor | BMPR-2 | BMPR-II | bone morphogenetic protein receptor type II | BRK-3
"A TGF-beta superfamily receptor type-2 with activin receptor domain that is a translation product of the human BMPR2 gene or a 1:1 ortholog thereof. Bone morphogenetic protein (BMP) signals are transmitted by type 2 and type 1 serine/threonine kinase receptors. Type 2 receptors phosphorylate and activate type 1 receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators." [PRO:CNA] |
acts_upstream_of_or_within | GO:0030509 BMP signaling pathway |
PIRSF:PIRSF500434 |
PR:000000070 ACVR2A
ACVR2 | activin receptor type IIA | ACTR-IIA | ACTRIIA
"A TGF-beta superfamily receptor type-2 with activin receptor domain that is a translation product of the human ACVR2A gene or a 1:1 ortholog thereof." [PRO:CNA] |
acts_upstream_of_or_within | GO:0032924 activin receptor signaling pathway |
PIRSF:PIRSF500457 |
| enables | GO:0048185 activin binding |
PIRSF:PIRSF500457 |
PR:000000071 ACVR2B
activin receptor type IIB | ACTR-IIB
"A TGF-beta superfamily receptor type-2 with activin receptor domain that is a translation product of the human ACVR2B gene or a 1:1 ortholog thereof." [PRO:CNA] |
acts_upstream_of_or_within | GO:0032924 activin receptor signaling pathway |
PIRSF:PIRSF500456 |
| enables | GO:0048185 activin binding |
PIRSF:PIRSF500456 |
PR:000000149 hBMPR2/var:C60Y
UniProtKB:Q13873, Cys-60, CHEBI:46858 | UniProtKB:Q13873-1, Cys-60, CHEBI:46858 | BMP receptor type-2 sequence variant 1 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Tyr residue at the position equivalent to Cys-60 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-60, CHEBI:46858." [PMID:11015450, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:11015450 |
PR:000000150 hBMPR2/var:D485G
UniProtKB:Q13873, Asp-485, CHEBI:29947 | UniProtKB:Q13873-1, Asp-485, CHEBI:29947 | BMP receptor type-2 sequence variant 10 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Gly residue at the position equivalent to Asp-485 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Asp-485, CHEBI:29947." [PMID:10973254, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:10973254 |
PR:000000151 hBMPR2/var:R491Q
UniProtKB:Q13873, Arg-491, CHEBI:30011 | UniProtKB:Q13873-1, Arg-491, CHEBI:30011 | BMP receptor type-2 sequence variant 11 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Gln residue at the position equivalent to Arg-491 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Arg-491, CHEBI:30011." [PMID:10903931, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:10903931 |
PR:000000152 hBMPR2/var:R491W
UniProtKB:Q13873, Arg-491, CHEBI:29954 | UniProtKB:Q13873-1, Arg-491, CHEBI:29954 | BMP receptor type-2 sequence variant 12 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Trp residue at the position equivalent to Arg-491 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Arg-491, CHEBI:29954." [PMID:10903931, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:10903931 |
PR:000000153 hBMPR2/var:K512T
UniProtKB:Q13873, Lys-512, CHEBI:30013 | UniProtKB:Q13873-1, Lys-512, CHEBI:30013 | BMP receptor type-2 sequence variant 13 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Thr residue at the position equivalent to Lys-512 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Lys-512, CHEBI:30013." [PMID:11115378, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:11115378 |
PR:000000154 hBMPR2/var:N519K
UniProtKB:Q13873, Asn-519, CHEBI:29967 | UniProtKB:Q13873-1, Asn-519, CHEBI:29967 | BMP receptor type-2 sequence variant 14 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Lys residue at the position equivalent to Asn-519 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Asn-519, CHEBI:29967." [PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
UniProtKB_VAR:VAR_013683 |
PR:000000155 hBMPR2/var:C117Y
UniProtKB:Q13873, Cys-117, CHEBI:46858 | UniProtKB:Q13873-1, Cys-117, CHEBI:46858 | BMP receptor type-2 sequence variant 2 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Tyr residue at the position equivalent to Cys-117 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-117, CHEBI:46858." [PMID:11015450, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:11015450 |
PR:000000156 hBMPR2/var:C118W
UniProtKB:Q13873, Cys-118, CHEBI:29954 | UniProtKB:Q13873-1, Cys-118, CHEBI:29954 | BMP receptor type-2 sequence variant 3 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Trp residue at the position equivalent to Cys-118 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-118, CHEBI:29954." [PMID:10973254, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:10973254 |
PR:000000157 hBMPR2/var:C123R
UniProtKB:Q13873, Cys-123, CHEBI:29952 | UniProtKB:Q13873-1, Cys-123, CHEBI:29952 | BMP receptor type-2 sequence variant 4 (human)
"A bone morphogenetic protein receptor type-2 (human) that has an Arg residue at the position equivalent to Cys-123 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-123, CHEBI:29952." [PMID:11115378, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:11115378 |
PR:000000158 hBMPR2/var:C123S
UniProtKB:Q13873, Cys-123, CHEBI:29999 | UniProtKB:Q13873-1, Cys-123, CHEBI:29999 | BMP receptor type-2 sequence variant 5 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Ser residue at the position equivalent to Cys-123 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-123, CHEBI:29999." [PMID:11115378, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:11115378 |
PR:000000159 hBMPR2/var:E224D
UniProtKB:Q13873, Glu-224, CHEBI:29958 | UniProtKB:Q13873-1, Glu-224, CHEBI:29958 | BMP receptor type-2 sequence variant 6 (human)
"A bone morphogenetic protein receptor type-2 (human) that has an Asp residue at the position equivalent to Glu-224 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Glu-224, CHEBI:29958." [PMID:11115378, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:11115378 |
PR:000000160 hBMPR2/var:C347Y
UniProtKB:Q13873, Cys-347, CHEBI:46858 | UniProtKB:Q13873-1, Cys-347, CHEBI:46858 | BMP receptor type-2 sequence variant 7 (human)
"A bone morphogenetic protein receptor type-2 (human) that has a Tyr residue at the position equivalent to Cys-347 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-347, CHEBI:46858." [PMID:10973254, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:10973254 |
PR:000000161 hBMPR2/var:C420R
UniProtKB:Q13873, Cys-420, CHEBI:29952 | UniProtKB:Q13873-1, Cys-420, CHEBI:29952 | BMP receptor type-2 sequence variant 8 (human)
"A bone morphogenetic protein receptor type-2 (human) that has an Arg residue at the position equivalent to Cys-420 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-420, CHEBI:29952." [PMID:11115378, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:11115378 |
PR:000000162 hBMPR2/var:C483R
UniProtKB:Q13873, Cys-483, CHEBI:29952 | UniProtKB:Q13873-1, Cys-483, CHEBI:29952 | BMP receptor type-2 sequence variant 9 (human)
"A bone morphogenetic protein receptor type-2 (human) that has an Arg residue at the position equivalent to Cys-483 of the amino acid sequence represented by UniProtKB:Q13873-1. Example: UniProtKB:Q13873-1, Cys-483, CHEBI:29952." [PMID:11015450, PMID:12358323, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:14557 primary pulmonary hypertension |
PMID:11015450; PMID:12358323 |
PR:000000214 hACVR2B/var:R40H
UniProtKB:Q13705, Arg-40, CHEBI:29979 | UniProtKB:Q13705-1, Arg-40, CHEBI:29979 | activin receptor type-2B sequence variant 1 (human)
"An activin receptor type-2B (human) that has a His residue at the position equivalent to Arg-40 of the amino acid sequence represented by UniProtKB:Q13705-1. This variation is within the extracellular domain. Example: UniProtKB:Q13705-1, Arg-40, CHEBI:29979." [PMID:9916847, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050545 visceral heterotaxy |
PMID:9916847 |
PR:000000215 hACVR2B/var:V494I
UniProtKB:Q13705, Val-494, CHEBI:30009 | UniProtKB:Q13705-1, Val-494, CHEBI:30009 | activin receptor type-2B sequence variant 2 (human)
"An activin receptor type-2B (human) that has an Ile residue at the position equivalent to Val-494 of the amino acid sequence represented by UniProtKB:Q13705-1. Example: UniProtKB:Q13705-1, Val-494, CHEBI:30009." [PMID:9916847, PRO:CNA, PRO:DAN] |
associated_with_disease_progression | DO:0050545 visceral heterotaxy |
PMID:9916847 |
PR:000036440 mACVR2A/iso:1/GlycoPhos:1
"An activin receptor type-2A isoform 1 glycosylated and phosphorylated 1 in mouse." [PMID:10452853, PMID:11459935, PMID:12414726, PMID:16991118, PMID:7885474, PMID:8395525, PMID:8612709, PRO:CNA] |
acts_upstream_of_or_within | GO:0008584 male gonad development |
PMID:7885474 |
| GO:0009952 anterior/posterior pattern specification |
PMID:10452853; PMID:16991118 |
| enables | GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:8395525 |
| GO:0016362 activin receptor activity, type II |
PMID:8395525 |
| GO:0019838 growth factor binding |
PMID:11459935; PMID:12414726 |
| GO:0042803 protein homodimerization activity |
PMID:8612709 |
| located_in | GO:0048179 activin receptor complex |
PMID:8395525 |
PR:000036441 hACVR2A/iso:1/GlycoPhos:1
"An activin receptor type-2A isoform 1 glycosylated and phosphorylated 1 in human." [PMID:12665502, PMID:1314589, PMID:8622651, PRO:CNA] |
acts_upstream_of_or_within | GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway |
PMID:1314589 |
| enables | GO:0016362 activin receptor activity, type II |
PMID:12665502 |
| located_in | GO:0005886 plasma membrane |
PMID:1314589 |
| GO:0048179 activin receptor complex |
PMID:8622651 |
PR:000036442 mACVR2B/iso:ActR-IIB2/NGlycoPhos:1
activin receptor type-2B isoform 1 glycosylated and phosphorylated 1 (mouse) | mACVR2B/iso:1/GlycoPhos:1
"An activin receptor type-2B isoform ActR-IIB2 N-glycosylated and phosphorylated 1 in mouse." [PMID:10452853, PMID:11459935, PMID:12414726, PMID:1326537, PMID:16991118, PMID:8721982, PRO:CNA] |
acts_upstream_of_or_within | GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway |
PMID:8721982 |
| GO:0009952 anterior/posterior pattern specification |
PMID:10452853; PMID:16991118 |
| GO:0032925 regulation of activin receptor signaling pathway |
PMID:8721982 |
| enables | GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:1326537 |
| GO:0019838 growth factor binding |
PMID:11459935; PMID:12414726 |
| NOT GO:0050431 transforming growth factor beta binding |
PMID:1326537 |
PR:000036443 hACVR2B/iso:ActR-IIB2/NGlycoPhos:1
activin receptor type-2B isoform 1 glycosylated and phosphorylated 1 (human) | hACVR2B/iso:1/GlycoPhos:1
"An activin receptor type-2B isoform ActR-IIB2 N-glycosylated and phosphorylated 1 in human." [PMID:11279102, PMID:24337809, PMID:8161782, PMID:8622651, PMID:9872992, PRO:CNA, PRO:DAN] |
enables | GO:0004675 transmembrane receptor protein serine/threonine kinase activity |
PMID:8622651 |
| GO:0005515 protein binding |
PMID:11279102; PMID:9872992 |
| GO:0016362 activin receptor activity, type II |
PMID:8622651 |
| located_in | GO:0005886 plasma membrane |
PMID:8161782 |
| GO:0048179 activin receptor complex |
PMID:8622651 |
PR:O35607-1 mBMPR2/iso:1
"A BMP receptor type-2 isoform 1 that is encoded in the genome of mouse." [PRO:CNA] |
acts_upstream_of_or_within | GO:0030509 BMP signaling pathway |
PMID:12117821 |
| located_in | GO:0009986 cell surface |
PMID:12117821 |
PR:P27038-1 mACVR2A/iso:1
"An activin receptor type-2A isoform 1 that is encoded in the genome of mouse." [PRO:DNx, UniProtKB:P27038] |
acts_upstream_of_or_within | GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway |
PMID:8395525 |
PR:P27040-1 mACVR2B/iso:ActR-IIB1
"An activin receptor type-2B isoform ActR-IIB1 that is encoded in the genome of mouse." [PRO:CNA] |
located_in | GO:0005886 plasma membrane |
PMID:1310075 |
| GO:0048179 activin receptor complex |
PMID:1310075 |
PR:P27040-3 mACVR2B/iso:ActR-IIB3
"An activin receptor type-2B isoform ActR-IIB3 that is encoded in the genome of mouse." [PRO:CNA] |
located_in | GO:0005886 plasma membrane |
PMID:1310075 |
| GO:0048179 activin receptor complex |
PMID:1310075 |
PR:P27040-4 mACVR2B/iso:ActR-IIB4
"An activin receptor type-2B isoform ActR-IIB4 that is encoded in the genome of mouse." [PRO:CNA] |
located_in | GO:0005886 plasma membrane |
PMID:1310075 |
| GO:0048179 activin receptor complex |
PMID:1310075 |
PR:Q13705-1 hACVR2B/iso:ActR-IIB2
"An activin receptor type-2B isoform ActR-IIB2 that is encoded in the genome of human." [PRO:CNA] |
acts_upstream_of_or_within | GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway |
PMID:8161782 |
PR:Q13705-2 hACVR2B/iso:ActR-IIB1
activin receptor type-2B isoform ActR-IIB1 (human)
"An activin receptor type-2B isoform ActR-IIBtrunc that is encoded in the genome of human." [PMID:9916847, PRO:DNx, UniProtKB:Q13705] |
enables | NOT GO:0016362 activin receptor activity, type II |
PMID:9916847 |
| located_in | SO:0001587 stop_gained |
PMID:9916847 |
PR:Q13873-1 hBMPR2/iso:1
"A BMP receptor type-2 isoform 1 that is encoded in the genome of human." [PRO:CNA] |
acts_upstream_of_or_within | GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway |
PMID:7644468 |
| enables | GO:0005515 protein binding with PR:P12643 BMP-2 (human) |
PMID:7791754 |
| GO:0005515 protein binding with PR:P18075 BMP-7 (human) |
PMID:7791754 |
| located_in | GO:0005886 plasma membrane |
PMID:7791754 |
| GO:0009986 cell surface |
PMID:10712517 |
| GO:0043235 receptor complex |
PMID:7791754 |
