Gene table of BMPR1B : bone morphogenetic protein receptor type 1B

Gene-disease associations table

Disease IDDisease nameSource of annotation with BMPR1BOMIM linkNumber of associated genesgenes
609441ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPEClinVar, OMIM, HUMSAVAR link to OMIM 1BMPR1B
112600BRACHYDACTYLY, TYPE A2ClinVar, OMIM, HUMSAVAR link to OMIM 3BMP2, GDF5, BMPR1B
616849BRACHYDACTYLY, TYPE A1, DClinVar, OMIM link to OMIM 1BMPR1B

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Annotation of the gene BMPR1B

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
TGF-beta signaling pathwayhsa043506.41
Signaling pathways regulating pluripotency of stem cellshsa045505.6
Hippo signaling pathwayhsa043905.37
Cytokine-cytokine receptor interactionhsa040604.67
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Signaling by BMPR-HSA-2014518.46
Signal TransductionR-HSA-1625821.78
Associated GO terms for Molecular function
GO termGO IDGO IC
signaling receptor activityGO:00380232.49
purine ribonucleoside triphosphate bindingGO:00356392.22
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
signal transducer activityGO:00048712.28
ion bindingGO:00431671.36
heterocyclic compound bindingGO:19013631.06
purine nucleoside bindingGO:00018832.22
nucleoside bindingGO:00018822.21
glycoprotein bindingGO:00019485.11
cation bindingGO:00431691.4
receptor signaling protein activityGO:00050574.76
nucleotide bindingGO:00001661.96
transmembrane receptor protein serine/threonine kinase activityGO:00046756.91
protein serine/threonine kinase activityGO:00046743.64
transferase activityGO:00167401.95
nucleoside phosphate bindingGO:19012651.96
ribonucleoside bindingGO:00325492.22
purine nucleotide bindingGO:00170762.19
protein kinase activityGO:00046723.27
metal ion bindingGO:00468721.41
ATP bindingGO:00055242.43
kinase activityGO:00163012.93
small molecule bindingGO:00360941.89
catalytic activityGO:00038241.05
transferase activity, transferring phosphorus-containing groupsGO:00167722.77
SMAD bindingGO:00463325.45
adenyl nucleotide bindingGO:00305542.4
carbohydrate derivative bindingGO:00973672.03
organic cyclic compound bindingGO:00971591.05
transforming growth factor beta receptor activity, type IGO:00050258.35
transforming growth factor beta-activated receptor activityGO:00050247.44
phosphotransferase activity, alcohol group as acceptorGO:00167733.08
transmembrane signaling receptor activityGO:00048882.57
adenyl ribonucleotide bindingGO:00325592.41
transmembrane receptor activityGO:00996002.53
protein bindingGO:00055150.46
receptor signaling protein serine/threonine kinase activityGO:00047025.23
purine ribonucleotide bindingGO:00325552.2
transmembrane receptor protein kinase activityGO:00191995.32
purine ribonucleoside bindingGO:00325502.22
ribonucleotide bindingGO:00325532.19
receptor activityGO:00048722.32