BMPR1B
Summary: This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| bone morphogenetic protein receptor type 1B | MIM:603248 | Ensembl:ENSG00000138696 | HGNC:HGNC:1077 | PA25387 | 4q22.3 |
GO terms in BMPR1B
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IMP | GO:0001501 | skeletal system development |
| BP | NAS | GO:0001502 | cartilage condensation |
| BP | ISS | GO:0001550 | ovarian cumulus expansion |
| BP | ISS | GO:0001654 | eye development |
| BP | ISS | GO:0002063 | chondrocyte development |
| BP | IDA | GO:0006468 | protein phosphorylation |
| BP | IEA | GO:0006954 | inflammatory response |
| BP | IBA | GO:0007179 | transforming growth factor beta receptor signaling pathway |
| BP | IBA | GO:0007389 | pattern specification process |
| BP | IEA | GO:0009953 | dorsal/ventral pattern formation |
| BP | ISS | GO:0030166 | proteoglycan biosynthetic process |
| BP | IMP | GO:0030501 | positive regulation of bone mineralization |
| BP | IDA | GO:0030509 | BMP signaling pathway |
| BP | NAS | GO:0030509 | BMP signaling pathway |
| BP | TAS | GO:0030509 | BMP signaling pathway |
| BP | IEA | GO:0031290 | retinal ganglion cell axon guidance |
| BP | ISS | GO:0032332 | positive regulation of chondrocyte differentiation |
| BP | IMP | GO:0035108 | limb morphogenesis |
| BP | ISS | GO:0042698 | ovulation cycle |
| BP | IMP | GO:0045597 | positive regulation of cell differentiation |
| BP | IMP | GO:0045669 | positive regulation of osteoblast differentiation |
| BP | IMP | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0060041 | retina development in camera-type eye |
| BP | ISS | GO:0060350 | endochondral bone morphogenesis |
| BP | ISS | GO:0061036 | positive regulation of cartilage development |
| BP | IMP | GO:0071773 | cellular response to BMP stimulus |
| BP | IEA | GO:1902043 | positive regulation of extrinsic apoptotic signaling pathway via death domain receptors |
| BP | ISS | GO:1902731 | negative regulation of chondrocyte proliferation |
| CC | ISS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IBA | GO:0005887 | integral component of plasma membrane |
| CC | IC | GO:0005887 | integral component of plasma membrane |
| CC | IEA | GO:0030425 | dendrite |
| CC | IEA | GO:0043025 | neuronal cell body |
| CC | IBA | GO:0043235 | receptor complex |
| CC | TAS | GO:0043235 | receptor complex |
| CC | IC | GO:1990712 | HFE-transferrin receptor complex |
| MF | IDA | GO:0004674 | protein serine/threonine kinase activity |
| MF | IMP | GO:0004675 | transmembrane receptor protein serine/threonine kinase activity |
| MF | NAS | GO:0004675 | transmembrane receptor protein serine/threonine kinase activity |
| MF | IBA | GO:0005024 | transforming growth factor beta-activated receptor activity |
| MF | IBA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IEA | GO:0005025 | transforming growth factor beta receptor activity, type I |
| MF | IPI | GO:0005515 | protein binding |
| MF | IDA | GO:0005524 | ATP binding |
| MF | IBA | GO:0019838 | growth factor binding |
| MF | IBA | GO:0046332 | SMAD binding |
| MF | IDA | GO:0046332 | SMAD binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: BMPR1B
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BMPR1B
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-201451 | Signaling by BMP |
| reactome | R-HSA-9006936 | Signaling by TGF-beta family members |
| humancyc | PWY66-11 | BMP Signalling Pathway |
| pid | bmppathway | BMP receptor signaling |
| kegg | hsa04060 | Cytokine-cytokine receptor interaction - Homo sapiens (human) |
| kegg | hsa04350 | TGF-beta signaling pathway - Homo sapiens (human) |
| kegg | hsa04360 | Axon guidance - Homo sapiens (human) |
| kegg | hsa04390 | Hippo signaling pathway - Homo sapiens (human) |
| kegg | hsa04550 | Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) |
| kegg | hsa05418 | Fluid shear stress and atherosclerosis - Homo sapiens (human) |
| wikipathways | WP1425 | Bone Morphogenic Protein (BMP) Signalling and Regulation |
| wikipathways | WP34 | Ovarian Infertility Genes |
| wikipathways | WP3931 | ESC Pluripotency Pathways |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD137 | Indisulam | 2 |
| iGMDRD158 | NSC141540 | 1 |
| iGMDRD202 | Curcumin | 1 |
| iGMDRD802 | 4-methylfasudil | 6 |
| iGMDRD434 | BMS-536924 | 3 |
| iGMDRD105 | Triptolide | 3 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD60 | Quinoclamine | 6 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD451 | Serdemetan | 1 |
| iGMDRD356 | PNU-74654 | 3 |
| iGMDRD126 | Tipifarnib | 2 |
| iGMDRD427 | ABT737 | 2 |
| iGMDRD424 | Tamatinib | 3 |
| iGMDRD193 | Fqi1 | 1 |
| iGMDRD152 | 179324-69-7 | 6 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD394 | BX-795 | 1 |
| iGMDRD280 | CYTOCHALASIN B | 3 |
| iGMDRD211 | (1S,3R)-RSL3 | 3 |
| iGMDRD297 | Austocystin D | 2 |
| iGMDRD901 | ELCPK | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BMPR1B
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