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RIMBP2
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| RIMBP2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | RIMBP2, PPP1R133, RBP2, RIM-BP2, RIMS binding protein 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611602; MGI: 2443235; HomoloGene: 14672; GeneCards: RIMBP2; OMA:RIMBP2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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RIMS binding protein 2 is a protein that in humans is encoded by the RIMBP2 gene.[5] This protein plays a significant role in synaptic transmission and is involved in the regulation of voltage-gated calcium channels, which are crucial for neurotransmitter release at synapses.[6][7]
Function and characteristics
[edit]RIMBP2 is primarily located in the presynaptic active zones of neurons, where it contributes to the organization and maintenance of synaptic structures. It is essential for the proper functioning of synaptic vesicles and calcium-dependent processes that facilitate communication between neurons.[8][9]
Clinical relevance
[edit]Research has indicated that mutations or dysregulation of RIMBP2 may be associated with various neurological disorders, such as Pitt-Hopkins syndrome.[6][10]
References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000060709 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029420 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: RIMS binding protein 2". Retrieved 2016-02-11.
- ^ a b RGD. "Rimbp2 (RIMS binding protein 2) - Rat Genome Database". rgd.mcw.edu. Retrieved 2024-10-20.
- ^ Mittelstaedt T, Schoch S (November 2007). "Structure and evolution of RIM-BP genes: identification of a novel family member". Gene. 403 (1–2): 70–79. doi:10.1016/j.gene.2007.08.004. PMID 17855024.
- ^ "RIMBP2 protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2024-10-20.
- ^ Butola T, Alvanos T, Hintze A, Koppensteiner P, Kleindienst D, Shigemoto R, et al. (September 2021). "RIM-Binding Protein 2 Organizes Ca2+ Channel Topography and Regulates Release Probability and Vesicle Replenishment at a Fast Central Synapse". The Journal of Neuroscience. 41 (37): 7742–7767. doi:10.1523/JNEUROSCI.0586-21.2021. PMC 8445062. PMID 34353898.
- ^ Davis BA, Chen HY, Ye Z, Ostlund I, Tippani M, Das D, et al. (April 2024). "TCF4 Mutations Disrupt Synaptic Function Through Dysregulation of RIMBP2 in Patient-Derived Cortical Neurons". Biological Psychiatry. 95 (7): 662–675. doi:10.1016/j.biopsych.2023.07.021. PMC 10858293. PMID 37573005.
External links
[edit]- PDBe-KB provides an overview of all the structure information available in the PDB for Human RIMS-binding protein 2 (RIMBP2)