Entity Details

Primary name RIMS2
Entity type gene
Source Source Link

Details

PrimaryID9699
RefseqGeneNG_053027
SymbolRIMS2
Nameregulating synaptic membrane exocytosis 2
Chromosome8
Location8q22.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-22

Ontological Relatives

UniProt IDsRIMS2_HUMAN

GO terms

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GOName
GO:0006886 intracellular protein transport
GO:0010628 positive regulation of gene expression
GO:0017156 calcium-ion regulated exocytosis
GO:0017157 regulation of exocytosis
GO:0019933 cAMP-mediated signaling
GO:0030073 insulin secretion
GO:0030154 cell differentiation
GO:0031267 small GTPase binding
GO:0042391 regulation of membrane potential
GO:0042734 presynaptic membrane
GO:0042995 cell projection
GO:0044325 transmembrane transporter binding
GO:0046872 metal ion binding
GO:0048167 regulation of synaptic plasticity
GO:0048786 presynaptic active zone
GO:0048788 cytoskeleton of presynaptic active zone
GO:0048791 calcium ion-regulated exocytosis of neurotransmitter
GO:0050806 positive regulation of synaptic transmission
GO:0061669 spontaneous neurotransmitter secretion
GO:0070062 extracellular exosome
GO:0097151 positive regulation of inhibitory postsynaptic potential
GO:1903861 positive regulation of dendrite extension
GO:2000300 regulation of synaptic vesicle exocytosis
GO:2000463 positive regulation of excitatory postsynaptic potential

Diseases

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Disease IDSourceNameDescription
618970 OMIMCone-rod synaptic disorder syndrome, congenital non-progressive (CRSDS)An autosomal recessive disorder characterized by reduced visual acuity, photophobia, nystagmus, distinctive electroretinographic features, neurodevelopmental delay, poor or absent language, autistic behaviors, and abnormal glucose homeostasis. The disease is caused by variants affecting the gene represented in this entry.