RIMBP2

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]

RIMBP2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WIE, 2CSI, 2CSP, 2CSQ
Identifiers
Aliases	RIMBP2, PPP1R133, RBP2, RIM-BP2, RIMS binding protein 2
External IDs	OMIM: 611602; MGI: 2443235; HomoloGene: 14672; GeneCards: RIMBP2; OMA:RIMBP2 - orthologs
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12q24.33 Start 130,396,137 bp[1] End 130,716,281 bp[1]
Gene location (Mouse) Chr. Chromosome 5 (mouse)[2] Band 5|5 G1.3 Start 128,834,855 bp[2] End 129,030,550 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Brodmann area 10 frontal pole pituitary gland Region I of hippocampus proper anterior pituitary orbitofrontal cortex Brodmann area 46 superior frontal gyrus middle temporal gyrus postcentral gyrus Top expressed in visual cortex primary visual cortex dentate gyrus of hippocampal formation granule cell superior frontal gyrus superior cervical ganglion islet of Langerhans prefrontal cortex piriform cortex cingulate gyrus primary motor cortex More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 23504 231760 Ensembl ENSG00000060709 ENSMUSG00000029420 UniProt O15034 Q80U40 RefSeq (mRNA) NM_015347 NM_001351226 NM_001351227 NM_001351228 NM_001351229 NM_001351230 NM_001351231 NM_001351232 NM_001351233 NM_001081388 NM_001310733 NM_001378900 RefSeq (protein) NP_056162 NP_001338155 NP_001338156 NP_001338157 NP_001338158 NP_001338159 NP_001338160 NP_001338161 NP_001338162 NP_001074857 NP_001297662 NP_001365829 Location (UCSC) Chr 12: 130.4 – 130.72 Mb Chr 5: 128.83 – 129.03 Mb PubMed search [3] [4]
Wikidata
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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]