RIMBP2

RIMBP2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesRIMBP2, PPP1R133, RBP2, RIM-BP2, RIMS binding protein 2
External IDsOMIM: 611602; MGI: 2443235; HomoloGene: 14672; GeneCards: RIMBP2; OMA:RIMBP2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

23504

231760

Ensembl

ENSG00000060709

ENSMUSG00000029420

UniProt

O15034

Q80U40

RefSeq (mRNA)

NM_001081388
NM_001310733
NM_001378900

RefSeq (protein)

NP_001074857
NP_001297662
NP_001365829

Location (UCSC)Chr 12: 130.4 – 130.72 MbChr 5: 128.83 – 129.03 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

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

Research has indicated that mutations or dysregulation of RIMBP2 may be associated with various neurological disorders, such as Pitt-Hopkins syndrome.[6][10]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000060709 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029420 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: RIMS binding protein 2". Retrieved 2016-02-11.
  6. ^ a b RGD. "Rimbp2 (RIMS binding protein 2) - Rat Genome Database". rgd.mcw.edu. Retrieved 2024-10-20.
  7. ^ 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.
  8. ^ "RIMBP2 protein expression summary - The Human Protein Atlas". www.proteinatlas.org. Retrieved 2024-10-20.
  9. ^ 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.
  10. ^ 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.
  • PDBe-KB provides an overview of all the structure information available in the PDB for Human RIMS-binding protein 2 (RIMBP2)

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