Covered on Genetics Home Reference: pulmonary arterial hypertensionFrom NCBI Gene: Chondrodysplasia acromesomelic with genital anomaliesBrachydactyly, type a1, dBrachydactyly type A2From UniProt: 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. [MIM:112600] 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). [MIM:609441]

     From NCBI Gene: 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] From UniProt: 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.

The following transcription factors affect gene expression:

• Sox9

Molecular Function:

• Glycoprotein Binding
• Protein Serine/Threonine Kinase Activity
• Transmembrane Receptor Protein Serine/Threonine Kinase Activity
• Signal Transducer, Downstream Of Receptor, With Serine/Threonine Kinase Activity
• Transforming Growth Factor Beta Receptor Activity, Type I
• Atp Binding
• Smad Binding
• Metal Ion Binding

Biological Processes:

• Skeletal System Development
• Cartilage Condensation
• Ovarian Cumulus Expansion
• Eye Development
• Chondrocyte Development
• Protein Phosphorylation
• Inflammatory Response
• Dorsal/Ventral Pattern Formation
• Proteoglycan Biosynthetic Process
• Positive Regulation Of Bone Mineralization
• Bmp Signaling Pathway
• Retinal Ganglion Cell Axon Guidance
• Positive Regulation Of Chondrocyte Differentiation
• Limb Morphogenesis
• Ovulation Cycle
• Positive Regulation Of Cell Differentiation
• Positive Regulation Of Osteoblast Differentiation
• Positive Regulation Of Transcription From Rna Polymerase Ii Promoter
• Retina Development In Camera-Type Eye
• Endochondral Bone Morphogenesis
• Positive Regulation Of Cartilage Development
• Cellular Response To Bmp Stimulus
• Positive Regulation Of Extrinsic Apoptotic Signaling Pathway Via Death Domain Receptors
• Negative Regulation Of Chondrocyte Proliferation