PRO Term |
GO Annotation |
Evidence |
PR:000000154
hBMPR2/var:N519K
Asn-519, CHEBI:29967
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
UniProtKB_VAR:VAR_013683 |
PR:000000155
hBMPR2/var:C117Y
Cys-117, CHEBI:46858
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:11015450 |
PR:O35607-1
mBMPR2/iso:1
|
acts_upstream_of_or_within |
GO:0030509 BMP signaling pathway
|
PMID:12117821 |
located_in |
GO:0009986 cell surface
|
PMID:12117821 |
PR:000000149
hBMPR2/var:C60Y
Cys-60, CHEBI:46858
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:11015450 |
PR:000000037
BMPR2
|
acts_upstream_of_or_within |
GO:0030509 BMP signaling pathway
|
PIRSF:PIRSF500434 |
PR:000000152
hBMPR2/var:R491W
Arg-491, CHEBI:29954
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:10903931 |
PR:000000153
hBMPR2/var:K512T
Lys-512, CHEBI:30013
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:11115378 |
PR:000000150
hBMPR2/var:D485G
Asp-485, CHEBI:29947
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:10973254 |
PR:000000151
hBMPR2/var:R491Q
Arg-491, CHEBI:30011
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:10903931 |
PR:000000156
hBMPR2/var:C118W
Cys-118, CHEBI:29954
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:10973254 |
PR:000000157
hBMPR2/var:C123R
Cys-123, CHEBI:29952
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:11115378 |
PR:000000161
hBMPR2/var:C420R
Cys-420, CHEBI:29952
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:11115378 |
PR:000000160
hBMPR2/var:C347Y
Cys-347, CHEBI:46858
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:10973254 |
PR:Q13873-1
hBMPR2/iso:1
|
acts_upstream_of_or_within |
GO:0007178 transmembrane receptor protein serine/threonine kinase signaling pathway
|
PMID:7644468 |
enables |
GO:0005515 protein binding
with PR:P18075 hBMP7
|
PMID:7791754 |
enables |
GO:0005515 protein binding
with PR:P12643 hBMP2
|
PMID:7791754 |
located_in |
GO:0009986 cell surface
|
PMID:10712517 |
located_in |
GO:0005886 plasma membrane
|
PMID:7791754 |
part_of |
GO:0043235 receptor complex
|
PMID:7791754 |
PR:000000158
hBMPR2/var:C123S
Cys-123, CHEBI:29999
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:11115378 |
PR:000000159
hBMPR2/var:E224D
Glu-224, CHEBI:29958
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:11115378 |
PR:000000162
hBMPR2/var:C483R
Cys-483, CHEBI:29952
|
associated_with_disease_progression |
DOID:14557 primary pulmonary hypertension
|
PMID:11015450, PMID:12358323 |
|