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FLASH GENE

Symbol

RIMS2

contributors: mct - updated : 01-09-2020

HGNC name	regulating synaptic membrane exocytosis 2
HGNC id	17283

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001100117 24 - 8601 NP_001093587 - 1349 brain retina pancreas 2020 32470375 RIMS2A NM_014677 22 - 8054 NP_055492 - 1163 in brain, retina, pancreas and fibroblasts 2020 32470375 RIMS2Beta NM_001348486 25 - 8772 NP_001335415 - 1406 brain, retina ,pancreas, fibroblasts 2020 32470375

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine neuroendocrine pituitary     highly   pancreas       highly Homo sapiens Hearing/Equilibrium ear       highly Nervous brain       highly Reproductive female system ovary         male system testis       Visual eye retina     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Homo sapiens Nervous Purkinje cell Homo sapiens Visual rod photoreceptor Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an N-terminal zinc finger, ligand of 14-3-3 proteins, binding to RAB3 as a function of GTP
	two C-terminal C2 domain, rabphilin-3A effector domain
	a central PDZ domain
	three C terminal SAM domains

HOMOLOGY

interspecies

homolog to murine Rabphilin 3A

intraspecies

homolog to RIMS1

Homologene

FAMILY

RIM family of active zone proteins

CATEGORY

chaperone/stress , regulatory , transport

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,mitochondria
	intracellular,cytoplasm,cytoskeleton
text	synaptic
	mitochondrial carrier protein

basic FUNCTION	integrating active zone proteins and synaptic vesicles into a molecular scaffold that controls neurotransmitters release
	regulating vesicle exocytosis during short-term plasticity
	RIMS1 and RIMS2 are multidomain active zone proteins of presynaptic terminals
	RIMS1 and RIMS2 are not essential for synapse formation or synaptic exocytosis, but are required for normal Ca(2+)-triggering of exocytosis
	component of the presynaptic active zone and modulator of exocytosis
	piccolo, RIMS2, RIMS3, are involved in the neurobiology of schizophrenia
	determines docking and priming states in insulin granule exocytosis
	RIMS1, and RIMS2 co-ordinately regulate key functions for fast transmitter release, enabling a high presynaptic Ca²+ channel density and vesicle docking at the presynaptic active zone
	mediate pyrimidine exchange in and out of vesicles
	is a pyrimidine exchanger with an additional unique function in promoting mitochondrial iron utilization
	plays an important role in maintaining the normal synaptic connection at the ribbon synapse of the photoreceptors
	role of RIMS2 in regulating synaptic membrane exocytosis in the brain, pancreas, and photoreceptors

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

exocytosis transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	RAB3A
	interacting with RIMBP2 and BZRAP1
	contributes to the stabilization of CACNA1D gating kinetics in immature cochlear inner hair cell
	PNKD interacts with synaptic active zone proteins Rab3-interacting molecule (RIMS1) and RIMS2, localizes to synapses, and modulates neurotransmitter release

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CRSDS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS