Gene table of BMPR2 : bone morphogenetic protein receptor type 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with BMPR2	OMIM link	Number of associated genes	genes
PS178600	PULMONARY HYPERTENSION, PRIMARY	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	SMAD9, KCNK3, KCNA5, CAV1, BMPR2
PS265450	PULMONARY VENOOCCLUSIVE DISEASE	OMIM	link to OMIM	2	EIF2AK4, BMPR2

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Annotation of the gene BMPR2

Associated genes in ENSEMBL

ENSG00000204217

Associated proteins - SwissProt Accession ID

Q13873

Associated PDB IDs

Cytogenetic Band

2q33.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
TGF-beta signaling pathway	hsa04350	6.41
Signaling pathways regulating pluripotency of stem cells	hsa04550	5.6
MicroRNAs in cancer	hsa05206	5.38
Hippo signaling pathway	hsa04390	5.37
Cytokine-cytokine receptor interaction	hsa04060	4.67

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Signaling by BMP	R-HSA-201451	8.46
Signal Transduction	R-HSA-162582	1.78

Associated GO terms for Molecular function

GO term	GO ID	GO IC
signaling receptor activity	GO:0038023	2.49
purine ribonucleoside triphosphate binding	GO:0035639	2.22
cytokine binding	GO:0019955	5.21
molecular transducer activity	GO:0060089	2.32
binding	GO:0005488	0.18
signal transducer activity	GO:0004871	2.28
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
purine nucleoside binding	GO:0001883	2.22
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
receptor signaling protein activity	GO:0005057	4.76
growth factor binding	GO:0019838	4.89
BMP binding	GO:0036122	7.54
ion binding	GO:0043167	1.36
transmembrane receptor protein serine/threonine kinase activity	GO:0004675	6.91
protein serine/threonine kinase activity	GO:0004674	3.64
transferase activity	GO:0016740	1.95
BMP receptor activity	GO:0098821	8.13
nucleoside phosphate binding	GO:1901265	1.96
protein kinase activity	GO:0004672	3.27
purine nucleotide binding	GO:0017076	2.19
activin receptor activity, type II	GO:0016362	9.05
metal ion binding	GO:0046872	1.41
ATP binding	GO:0005524	2.43
kinase activity	GO:0016301	2.93
receptor signaling protein serine/threonine kinase activity	GO:0004702	5.23
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
adenyl nucleotide binding	GO:0030554	2.4
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
ribonucleoside binding	GO:0032549	2.22
phosphotransferase activity, alcohol group as acceptor	GO:0016773	3.08
transmembrane signaling receptor activity	GO:0004888	2.57
adenyl ribonucleotide binding	GO:0032559	2.41
transmembrane receptor activity	GO:0099600	2.53
protein binding	GO:0005515	0.46
transferase activity, transferring phosphorus-containing groups	GO:0016772	2.77
purine ribonucleotide binding	GO:0032555	2.2
activin-activated receptor activity	GO:0017002	7.79
transmembrane receptor protein kinase activity	GO:0019199	5.32
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19
receptor activity	GO:0004872	2.32