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Protein Ontology report - BMP receptor type-2 sequence variant E224D (human)
PR:000000159 -
http://purl.obolibrary.org/obo/PR_000000159
Annotations
Ontology Information
Show OBO stanza
/
PAF
/
GPI
PRO ID
PR:000000159
PRO name
BMP receptor type-2 sequence variant E224D (human)
Synonyms
PRO-Short-label
:
EXACT:
hBMPR2/var:E224D
PRO-proteoform-std
:
EXACT:
UniProtKB:Q13873
, Glu-224,
CHEBI:29958
NARROW:
UniProtKB:Q13873-1
, Glu-224,
CHEBI:29958
Other
:
EXACT:
BMP receptor type-2 sequence variant 6 (human)
Definition
"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]
PRO Category
organism-sequence
Parent
PR:Q13873
bone morphogenetic protein receptor type-2 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Term Hierarchy
Visualization
DAG:
OLS:
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Related Cross References
Db identifiers
UniProtKB_VAR:VAR_013675
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Functional Annotation (PRO-centric view)
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GO Centric View
PRO Term
GO Annotation
Evidence
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