Gene
pdgfrb
- ID
- ZDB-GENE-030805-2
- Name
- platelet-derived growth factor receptor, beta polypeptide
- Symbol
- pdgfrb Nomenclature History
- Previous Names
-
- pdgfrb2
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to have ATP binding activity and transmembrane receptor protein tyrosine kinase activity. Involved in animal organ development and vasculature development. Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in basal ganglia calcification; glioblastoma multiforme; infantile myofibromatosis; myeloproliferative neoplasm (multiple); and renal cell carcinoma. Is expressed in several structures, including blood vessel; floor plate neural tube; gut; hypochord; and somite. Orthologous to human PDGFRB (platelet derived growth factor receptor beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 27 figures from 21 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 11 figures from 5 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
basal ganglia calcification | Alliance | Basal ganglia calcification, idiopathic, 4 | 615007 |
infantile myofibromatosis | Alliance | Myofibromatosis, infantile, 1 | 228550 |
myeloproliferative disorder with eosinophilia | Alliance | Myeloproliferative disorder with eosinophilia | 131440 |
Kosaki overgrowth syndrome | 616592 | ||
Premature aging syndrome, Penttinen type | 601812 |
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Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Active_site | IPR008266 | Tyrosine-protein kinase, active site |
Binding_site | IPR017441 | Protein kinase, ATP binding site |
Conserved_site | IPR001824 | Tyrosine-protein kinase, receptor class III, conserved site |
Domain | IPR000719 | Protein kinase domain |
Domain | IPR001245 | Serine-threonine/tyrosine-protein kinase, catalytic domain |
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Domain Details Per Protein
Protein | Length | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | Protein kinase, ATP binding site | Protein kinase domain | Protein kinase-like domain superfamily | Receptor Tyrosine Kinase | Serine-threonine/tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, active site | Tyrosine-protein kinase, catalytic domain | Tyrosine-protein kinase, receptor class III, conserved site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A0G2L2B8
|
877 | ||||||||||||||
UniProtKB:D9MNA7
|
1064 | ||||||||||||||
UniProtKB:A0A8M9QKL5
|
1072 |
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- Genome Browsers
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
pdgfrb-201
(1)
|
Ensembl | 3,195 nt | ||
mRNA |
pdgfrb-202
(1)
|
Ensembl | 7,594 nt |
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Interactions and Pathways
Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
---|---|---|---|---|---|---|---|
Ab1-pdgfrb | polyclonal | Rabbit |
|
1 |
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Plasmids
No data available
No data available
- Bhattarai, P., Gunasekaran, T.I., Belloy, M.E., Reyes-Dumeyer, D., Jülich, D., Tayran, H., Yilmaz, E., Flaherty, D., Turgutalp, B., Sukumar, G., Alba, C., McGrath, E.M., Hupalo, D.N., Bacikova, D., Le Guen, Y., Lantigua, R., Medrano, M., Rivera, D., Recio, P., Nuriel, T., Ertekin-Taner, N., Teich, A.F., Dickson, D.W., Holley, S., Greicius, M., Dalgard, C.L., Zody, M., Mayeux, R., Kizil, C., Vardarajan, B.N. (2024) Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease. Acta Neuropathologica. 147:7070
- Carey, C.M., Hollins, H.L., Schmid, A.V., Gagnon, J.A. (2024) Distinct features of the regenerating heart uncovered through comparative single-cell profiling. Biology Open. 13(4):
- Zi, H., Peng, X., Cao, J., Xie, T., Liu, T., Li, H., Bu, J., Du, J., Li, J. (2024) Piezo1-dependent regulation of pericyte proliferation by blood flow during brain vascular development. Cell Reports. 43:113652113652
- Kolb, J., Tsata, V., John, N., Kim, K., Möckel, C., Rosso, G., Kurbel, V., Parmar, A., Sharma, G., Karandasheva, K., Abuhattum, S., Lyraki, O., Beck, T., Müller, P., Schlüßler, R., Frischknecht, R., Wehner, A., Krombholz, N., Steigenberger, B., Beis, D., Takeoka, A., Blümcke, I., Möllmert, S., Singh, K., Guck, J., Kobow, K., Wehner, D. (2023) Small leucine-rich proteoglycans inhibit CNS regeneration by modifying the structural and mechanical properties of the lesion environment. Nature communications. 14:68146814
- Mao, A., Li, Z., Ning, G., Zhou, Z., Wei, C., Li, J., He, X., Wang, Q. (2023) Sclerotome-derived PDGF signaling functions as a niche cue responsible for primitive erythropoiesis. Development (Cambridge, England). 150(22):
- Mizoguchi, T., Okita, M., Minami, Y., Fukunaga, M., Maki, A., Itoh, M. (2023) Age-dependent dysfunction of the cerebrovascular system in the zebrafish telencephalon. Experimental gerontology. 178:112206
- O'Brown, N.M., Patel, N.B., Hartmann, U., Klein, A.M., Gu, C., Megason, S.G. (2023) The secreted neuronal signal spock1 promotes blood-brain barrier development. Developmental Cell. 58(17):1534-1547.e6
- Ribeiro, A., Rebocho da Costa, M., de Sena-Tomás, C., Rodrigues, E.C., Quitéria, R., Maçarico, T., Rosa Santos, S.C., Saúde, L. (2023) Development and repair of blood vessels in the zebrafish spinal cord. Open Biology. 13:230103230103
- Facchinello, N., Astone, M., Audano, M., Oberkersch, R.E., Spizzotin, M., Calura, E., Marques, M., Crisan, M., Mitro, N., Santoro, M.M. (2022) Oxidative pentose phosphate pathway controls vascular mural cell coverage by regulating extracellular matrix composition. Nature metabolism. 4:123-140
- Hariom, S.K., Nelson, E.J.R. (2022) Effects of short-term hypergravity on hematopoiesis and vasculogenesis in embryonic zebrafish. Life sciences in space research. 34:21-29
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