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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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RIMS2
regulating synaptic membrane exocytosis 2
Chromosome 8 Β· 8q22.3
NCBI Gene: 9699Ensembl: ENSG00000176406.25HGNC: HGNC:17283UniProt: A0A8Q3SIU4
44PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingextracellular exosomepositive regulation of dendrite extensionstructural constituent of presynaptic active zonecone-rod synaptic disorder syndrome, congenital nonprogressiveliver diseasecongenital stationary night blindnessHyperhidrosis
✦AI Summary

RIMS2 (regulating synaptic membrane exocytosis 2) is a presynaptic scaffold protein that plays a critical role in calcium-regulated neurotransmitter release and synaptic vesicle exocytosis 1. The protein localizes to presynaptic active zones and functions as a Rab effector involved in synaptic vesicle docking and priming 1. RIMS2 shows predominant expression in rod photoreceptors within the outer plexiform layer of the retina, as well as in Purkinje cells and pancreatic islets 1. Loss-of-function mutations in RIMS2 cause a syndromic congenital cone-rod synaptic disorder characterized by night blindness, photophobia, nystagmus, and distinctive electroretinographic abnormalities 1. Beyond retinal dysfunction, RIMS2 deficiency is associated with neurodevelopmental impairments and abnormal glucose homeostasis, likely due to impaired insulin secretion from pancreatic beta cells 1. The circular RNA form of RIMS2 (circRIMS2) is highly expressed in neural tissues and plays important roles in maintaining retinal structure and function, with deficiency leading to retinal degeneration and neuroinflammation 2. Additionally, circRIMS2 has been implicated in synaptic dysfunction associated with Alzheimer's disease through regulation of NMDA receptor degradation 3.

Sources cited
1
RIMS2 is a presynaptic scaffold protein regulating calcium-regulated neurotransmitter release, causes syndromic congenital cone-rod synaptic disorder, and affects insulin secretion
PMID: 32470375
2
circRIMS2 is highly expressed in retina and its deficiency leads to retinal degeneration and inflammation
PMID: 34738746
3
circRIMS2 mediates synaptic dysfunction in Alzheimer's disease through NMDA receptor regulation
PMID: 38012808
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
cone-rod synaptic disorder syndrome, congenital nonprogressiveOpen Targets
0.67Moderate
liver diseaseOpen Targets
0.34Weak
congenital stationary night blindnessOpen Targets
0.30Weak
HyperhidrosisOpen Targets
0.28Weak
parasitic infectionOpen Targets
0.28Weak
placenta praeviaOpen Targets
0.25Weak
arthritisOpen Targets
0.25Weak
spermatoceleOpen Targets
0.25Weak
thrombophiliaOpen Targets
0.25Weak
Atypical behaviorOpen Targets
0.24Weak
glomerulonephritisOpen Targets
0.24Weak
benign soft tissue neoplasmOpen Targets
0.23Weak
Iron deficiency anemiaOpen Targets
0.21Weak
nervous system benign neoplasmOpen Targets
0.18Weak
restless legs syndromeOpen Targets
0.17Weak
type 2 diabetes mellitusOpen Targets
0.09Suggestive
MODYOpen Targets
0.06Suggestive
GCGR-related hyperglucagonemiaOpen Targets
0.06Suggestive
colorectal carcinomaOpen Targets
0.06Suggestive
Combined pituitary hormone deficiencies, genetic formsOpen Targets
0.06Suggestive
Cone-rod synaptic disorder syndrome, congenital non-progressiveUniProt
Pathogenic Variants7
NM_001348484.3(RIMS2):c.2995+2T>CLikely pathogenic
not provided|Cone-rod synaptic disorder, congenital nonprogressive
β˜…β˜…β˜†β˜†2023
NM_001348484.3(RIMS2):c.208C>T (p.Gln70Ter)Likely pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive
β˜…β˜†β˜†β˜†β†’ Residue 70
NM_001348484.3(RIMS2):c.3126G>A (p.Trp1042Ter)Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive
β˜†β˜†β˜†β˜†2020β†’ Residue 1042
NM_001348484.3(RIMS2):c.2884C>T (p.Arg962Ter)Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive
β˜†β˜†β˜†β˜†2020β†’ Residue 962
NM_001348484.3(RIMS2):c.4363+1G>APathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive
β˜†β˜†β˜†β˜†2020
NM_001348484.3(RIMS2):c.3508C>T (p.Arg1170Ter)Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive
β˜†β˜†β˜†β˜†2020β†’ Residue 1170
NM_001348484.3(RIMS2):c.1595C>G (p.Ser532Ter)Pathogenic
Cone-rod synaptic disorder syndrome, congenital nonprogressive
β˜†β˜†β˜†β˜†2020β†’ Residue 532
View on ClinVar β†—
Related Genes
RAB3AProtein interaction99%TSPOAP1Protein interaction99%UNC13CProtein interaction97%PCLOProtein interaction87%RAB3CProtein interaction84%RIMBP3Protein interaction81%
Tissue Expression6 tissues
Brain
100%
Ovary
6%
Liver
1%
Lung
0%
Heart
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
RIMS2RAB3ATSPOAP1UNC13CPCLORAB3CRIMBP3
PROTEIN STRUCTURE
Preparing viewer…
PDB1V27 Β· NMR
View on RCSB β†—
RankingsWhere RIMS2 stands among ~20K protein-coding genes
  • #9,644of 20,598
    Most Researched44
  • #3,228of 5,498
    Most Pathogenic Variants7
Genes detectedRIMS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
PMID: 28600779
Hum Genet Β· 2017
1.00
2
Downregulation of FASN in granulosa cells and its impact on ovulatory dysfunction in PCOS.
PMID: 40170064
J Ovarian Res Β· 2025
0.90
3
Circular Rims2 Deficiency Causes Retinal Degeneration.
PMID: 34738746
Adv Biol (Weinh) Β· 2021
0.80
4
Aerobic exercise improves VCI through circRIMS2/miR-186/BDNF-mediated neuronal apoptosis.
PMID: 33413076
Mol Med Β· 2021
0.70
5
Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
PMID: 38468396
Clin Genet Β· 2024
0.60