BMPR1B

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]

Bone Morphogenetic Protein Receptor Type 1B

On ligand binding, forms a receptor complex consisting of two type II and two type I transmembrane serine/threonine kinases. Type II receptors phosphorylate and activate type I receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP7/OP-1 and GDF5. Positively regulates chondrocyte differentiation through GDF5 interaction.

BMP signaling pathway Source: BHF-UCL
Cartilage condensation Source: UniProtKB
Cellular response to BMP stimulus Source: BHF-UCL
Cellular response to growth factor stimulus Source: GO_Central
Chondrocyte development Source: AgBase
Dorsal/ventral pattern formation Source: GO_Central
Endochondral bone morphogenesis Source: AgBase
Eye development Source: UniProtKB
Inflammatory response Source: Ensembl
Limb morphogenesis Source: UniProtKB
Negative regulation of BMP signaling pathway Source: Reactome
Negative regulation of chondrocyte proliferation Source: AgBase
Osteoblast differentiation Source: Ensembl
Ovarian cumulus expansion Source: UniProtKB
Ovulation cycle Source: UniProtKB
Positive regulation of BMP signaling pathway Source: Reactome
Positive regulation of bone mineralization Source: BHF-UCL
Positive regulation of cartilage development Source: AgBase
Positive regulation of cell differentiation Source: UniProtKB
Positive regulation of chondrocyte differentiation Source: UniProtKB
Positive regulation of extrinsic apoptotic signaling pathway via death domain receptors Source: Ensembl
Positive regulation of osteoblast differentiation Source: BHF-UCL
Positive regulation of transcription by RNA polymerase II Source: BHF-UCL
Protein phosphorylation Source: HGNC-UCL
Proteoglycan biosynthetic process Source: AgBase
Retina development in camera-type eye Source: Ensembl
Retinal ganglion cell axon guidance Source: Ensembl
Skeletal system development Source: UniProtKB

Cell membrane; Membrane

Acromesomelic dysplasia, Demirhan type (AMDD): A form of chondrodysplasia. Acromesomelic chondrodysplasias are rare hereditary skeletal disorders characterized by short stature, very short limbs and hand/foot malformations. The severity of limb abnormalities increases from proximal to distal with profoundly affected hands and feet showing brachydactyly and/or rudimentary fingers (knob-like fingers). AMDD inheritance is autosomal recessive.
Brachydactyly A2 (BDA2): A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. In brachydactyly type A2 shortening of the middle phalanges is confined to the index finger and the second toe, all other digits being more or less normal. Because of a rhomboid or triangular shape of the affected middle phalanx, the end of the second finger usually deviates radially.
Brachydactyly A1, D (BDA1D): A form of brachydactyly type A1. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1D inheritance is autosomal dominant.

Extracellular: 14-126 aa
Helical: 127-148 aa
Cytoplasmic: 149-502 aa