Version: 8.0.0Date: Tue Jan 28 2025
Gene
BMPR1B
- Species
- Homo sapiens
- Symbol
- BMPR1B
- Name
- bone morphogenetic protein receptor type 1B
- Synonyms
- activin receptor-like kinase 6
- ALK-6
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including ATP binding activity; BMP binding activity; and BMP receptor activity. Involved in several processes, including BMP signaling pathway; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to be located in dendrite; membrane; and neuronal cell body. Predicted to be part of receptor complex. Predicted to be active in plasma membrane. Implicated in acromesomelic dysplasia-3; brachydactyly type A1D; brachydactyly type A2; and osteochondrodysplasia. Biomarker of asthma and pulmonary hypertension.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR23255
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr4:94757955...95158450 + (400.50 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.