RIMS2

The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]

Full Name

Regulating Synaptic Membrane Exocytosis 2

Function

Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Biological Process

Biological Process adenylate cyclase-modulating G protein-coupled receptor signaling pathwayISS:ParkinsonsUK-UCL
Biological Process calcium ion-regulated exocytosis of neurotransmitterISS:ParkinsonsUK-UCL
Biological Process calcium-ion regulated exocytosisISS:ParkinsonsUK-UCL
Biological Process cell differentiationIEA:UniProtKB-KW
Biological Process insulin secretionISS:ParkinsonsUK-UCL
Biological Process intracellular protein transportIEA:InterPro
Biological Process positive regulation of dendrite extensionManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process positive regulation of excitatory postsynaptic potentialISS:ParkinsonsUK-UCL
Biological Process positive regulation of inhibitory postsynaptic potentialISS:ParkinsonsUK-UCL
Biological Process positive regulation of synaptic transmissionManual Assertion Based On ExperimentIBA:GO_Central
Biological Process regulation of exocytosisISS:ParkinsonsUK-UCL
Biological Process regulation of membrane potentialISS:ParkinsonsUK-UCL
Biological Process regulation of synaptic plasticityManual Assertion Based On ExperimentIBA:GO_Central
Biological Process spontaneous neurotransmitter secretionISS:ParkinsonsUK-UCL

Cellular Location

Cell membrane
Synapse
Presynaptic cell membrane

Involvement in disease

Cone-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.