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 |
|---|---|---|---|---|---|
OMIM IDMIM:603248 Ensembl IDEnsembl:ENSG00000138696 HGNC IDHGNC:HGNC:1077 PHARMGKB IDPA25387 Map Location4q22.3 | |||||
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 |
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) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BMPR1B
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.