Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	9699
Gene name	Regulating synaptic membrane exocytosis 2
Gene symbol	RIMS2
Synonyms (NCBI Gene)	CRSDSOBOERAB3IP3RIM2
Chromosome	8
Chromosome location	8q22.3
Summary	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-interacti

Show/Hide all (88)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023538	hsa-miR-1-3p	Microarray	18668037
MIRT654254	hsa-miR-3065-3p	HITS-CLIP	23824327
MIRT654253	hsa-miR-376a-3p	HITS-CLIP	23824327
MIRT654252	hsa-miR-376b-3p	HITS-CLIP	23824327
MIRT654251	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT654254	hsa-miR-3065-3p	HITS-CLIP	23824327
MIRT654253	hsa-miR-376a-3p	HITS-CLIP	23824327
MIRT654252	hsa-miR-376b-3p	HITS-CLIP	23824327
MIRT654251	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT1306978	hsa-miR-1301	CLIP-seq
MIRT1306979	hsa-miR-135a	CLIP-seq
MIRT1306980	hsa-miR-135b	CLIP-seq
MIRT1306981	hsa-miR-3168	CLIP-seq
MIRT1306982	hsa-miR-3185	CLIP-seq
MIRT1306983	hsa-miR-3619-3p	CLIP-seq
MIRT1306984	hsa-miR-3646	CLIP-seq
MIRT1306985	hsa-miR-3942-3p	CLIP-seq
MIRT1306986	hsa-miR-4323	CLIP-seq
MIRT1306987	hsa-miR-4452	CLIP-seq
MIRT1306988	hsa-miR-4503	CLIP-seq
MIRT1306989	hsa-miR-4535	CLIP-seq
MIRT1306990	hsa-miR-4762-5p	CLIP-seq
MIRT1306991	hsa-miR-4776-5p	CLIP-seq
MIRT1306992	hsa-miR-5047	CLIP-seq
MIRT1306993	hsa-miR-577	CLIP-seq
MIRT1306994	hsa-miR-616	CLIP-seq
MIRT1306995	hsa-miR-1253	CLIP-seq
MIRT1306996	hsa-miR-1298	CLIP-seq
MIRT1306979	hsa-miR-135a	CLIP-seq
MIRT1306980	hsa-miR-135b	CLIP-seq
MIRT1306997	hsa-miR-200b	CLIP-seq
MIRT1306998	hsa-miR-200c	CLIP-seq
MIRT1306999	hsa-miR-27a	CLIP-seq
MIRT1307000	hsa-miR-27b	CLIP-seq
MIRT1306981	hsa-miR-3168	CLIP-seq
MIRT1306982	hsa-miR-3185	CLIP-seq
MIRT1307001	hsa-miR-3194-3p	CLIP-seq
MIRT1306983	hsa-miR-3619-3p	CLIP-seq
MIRT1306984	hsa-miR-3646	CLIP-seq
MIRT1307002	hsa-miR-3682-3p	CLIP-seq
MIRT1307003	hsa-miR-369-3p	CLIP-seq
MIRT1306985	hsa-miR-3942-3p	CLIP-seq
MIRT1307004	hsa-miR-412	CLIP-seq
MIRT1307005	hsa-miR-4258	CLIP-seq
MIRT1307006	hsa-miR-4280	CLIP-seq
MIRT1307007	hsa-miR-429	CLIP-seq
MIRT1307008	hsa-miR-4419a	CLIP-seq
MIRT1307009	hsa-miR-4434	CLIP-seq
MIRT1307010	hsa-miR-4446-3p	CLIP-seq
MIRT1306987	hsa-miR-4452	CLIP-seq
MIRT1307011	hsa-miR-4502	CLIP-seq
MIRT1307012	hsa-miR-4510	CLIP-seq
MIRT1307013	hsa-miR-4516	CLIP-seq
MIRT1306989	hsa-miR-4535	CLIP-seq
MIRT1307014	hsa-miR-4656	CLIP-seq
MIRT1307015	hsa-miR-4721	CLIP-seq
MIRT1306990	hsa-miR-4762-5p	CLIP-seq
MIRT1306991	hsa-miR-4776-5p	CLIP-seq
MIRT1307016	hsa-miR-4779	CLIP-seq
MIRT1307017	hsa-miR-513a-5p	CLIP-seq
MIRT1306993	hsa-miR-577	CLIP-seq
MIRT1307018	hsa-miR-583	CLIP-seq
MIRT1306994	hsa-miR-616	CLIP-seq
MIRT1307019	hsa-miR-767-3p	CLIP-seq
MIRT2091006	hsa-miR-3671	CLIP-seq
MIRT2091007	hsa-miR-4307	CLIP-seq
MIRT2315763	hsa-miR-1248	CLIP-seq
MIRT2315764	hsa-miR-1296	CLIP-seq
MIRT2315765	hsa-miR-146a	CLIP-seq
MIRT2315766	hsa-miR-146b-5p	CLIP-seq
MIRT2315767	hsa-miR-2909	CLIP-seq
MIRT2315768	hsa-miR-3149	CLIP-seq
MIRT2315769	hsa-miR-3545-3p	CLIP-seq
MIRT2315770	hsa-miR-3622a-3p	CLIP-seq
MIRT2315771	hsa-miR-3622b-3p	CLIP-seq
MIRT2315772	hsa-miR-3921	CLIP-seq
MIRT1306985	hsa-miR-3942-3p	CLIP-seq
MIRT2315773	hsa-miR-4251	CLIP-seq
MIRT2315774	hsa-miR-4329	CLIP-seq
MIRT2315775	hsa-miR-4436b-3p	CLIP-seq
MIRT2315776	hsa-miR-4653-5p	CLIP-seq
MIRT2315777	hsa-miR-4761-3p	CLIP-seq
MIRT2315778	hsa-miR-507	CLIP-seq
MIRT2315779	hsa-miR-5096	CLIP-seq
MIRT2315780	hsa-miR-557	CLIP-seq
MIRT2315781	hsa-miR-568	CLIP-seq
MIRT2315782	hsa-miR-589	CLIP-seq
MIRT2315783	hsa-miR-759	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	17474147
GO:0005886	Component	Plasma membrane	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006887	Process	Exocytosis	IEA
GO:0007188	Process	Adenylate cyclase-modulating G protein-coupled receptor signaling pathway	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0016020	Component	Membrane	IEA
GO:0016081	Process	Synaptic vesicle docking	IBA
GO:0016082	Process	Synaptic vesicle priming	IBA
GO:0017156	Process	Calcium-ion regulated exocytosis	ISS
GO:0017157	Process	Regulation of exocytosis	ISS
GO:0030073	Process	Insulin secretion	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0042391	Process	Regulation of membrane potential	ISS
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044325	Function	Transmembrane transporter binding	ISS
GO:0045202	Component	Synapse	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048786	Component	Presynaptic active zone	TAS	15217342
GO:0048790	Process	Maintenance of presynaptic active zone structure	IEA
GO:0048791	Process	Calcium ion-regulated exocytosis of neurotransmitter	ISS
GO:0061669	Process	Spontaneous neurotransmitter secretion	ISS
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0097151	Process	Positive regulation of inhibitory postsynaptic potential	ISS
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IBA
GO:0098882	Function	Structural constituent of presynaptic active zone	IBA
GO:1903861	Process	Positive regulation of dendrite extension	IDA	23999003
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IBA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

MIM	HGNC	e!Ensembl
606630	17283	ENSG00000176406

Q9UQ26

Protein name

Regulating synaptic membrane exocytosis protein 2 (Rab-3-interacting molecule 2) (RIM 2) (Rab-3-interacting protein 3)

Protein function

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

PDB

1V27 , 1WFG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02318	FYVE_2	67 → 185	FYVE-type zinc finger	Family
PF17820	PDZ_6	697 → 754	PDZ domain	Domain
PF00168	C2	820 → 930	C2 domain	Domain
PF00168	C2	1270 → 1377	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:32470375). Expressed in melanocytes (PubMed:23999003). In fetal tissues, predominantly expressed in the brain (PubMed:32470375). In the retina, expressed in the outer plexiform layer (at protein level) (PubMed:

Sequence

MSAPVGPRGRLAPIPAASQPPLQPEMPDLSHLTEEERKIILAVMDRQKKKVKEEHKPQLT
QWFPFSGITELVNNVLQPQQKQQNEKEPQTKLHQQFEMYKEQVKKMGEESQQQQEQKGDA
PTCGICHKTKFADGCGHNCSYCQTKFCARCGGRVSLRSNKVMWVCNLCRKQQEILTKSGA
WFYNSGSNTPQQPDQKVLRGLRNEEAPQEKKPKLHEQTQFQGPSGDLSVPAVEKSRSHGL
TRQHSIKNGSGVKHHIASDIASDRKRSPSVSRDQNRRYDQREEREEYSQYATSDTAMPRS
PSDYADRRSQHEPQFYEDSDHLSYRDSNRRSHRHSKEYIVDDEDVESRDEYERQRREEEY
QSRYRSDPNLARYPVKPQPYEEQMRIHAEVSRARHERRHSDVSLANADLEDSRISMLRMD
RPSRQRSISERRAAMENQRSYSMERTREAQGPSSYAQRTTNHSPPTPRRSPLPIDRPDLR
RTDSLRKQHHLDPSSAVRKTKREKMETMLRNDSLSSDQSESVRPPPPKPHKSKKGGKMRQ
ISLSSSEEELASTPEYTSCDDVEIESESVSEKGDSQKGKRKTSEQAVLSDSNTRSERQKE
MMYFGGHSLEEDLEWSEPQIKDSGVDTCSSTTLNEEHSHSDKHPVTWQPSKDGDRLIGRI
LLNKRLKDGSVPRDSGAMLGLKVVGGKMTESGRLCAFITKVKKGSLADTVGHLRPGDEVL
EWNGRLLQGATFEEVYNIILESKPEPQVELVVSRPIGDIPRIPDSTHAQLESSSSSFESQ
KMDRPSISVTSPMSPGMLRDVPQFLSGQLSIKLWFDKVGHQLIVTILGAKDLPSREDGRP
RNPYVKIYFLPDRSDKNKRRTKTVKKTLEPKWNQTFIYSPVHRREFRERMLEITLWDQAR
VREEESEFLGEILIELETALLDDEPHWYKLQTHDVSSLPLPHPSPYMPRRQLHGESPTRR
LQRSKRISDSEVSDYDCDDGIGVVSDYRHDGRDLQSSTLSVPEQVMSSNHCSPSGSPHRV
DVIGRTRSWSPSVPPPQSRNVEQGLRGTRTMTGHYNTISRMDRHRVMDDHYSPDRDRDCE
AADRQPYHRSRSTEQRPLLERTTTRSRSTERPDTNLMRSMPSLMTGRSAPPSPALSRSHP
RTGSVQTSPSSTPVAGRRGRQLPQLPPKGTLDRKAGGKKLRSTVQRSTETGLAVEMRNWM
TRQASRESTDGSMNSYSSEGNLIFPGVRLASDSQFSDFLDGLGPAQLVGRQTLATPAMGD
IQVGMMDKKGQLEVEIIRARGLVVKPGSKTLPAPYVKVYLLDNGVCIAKKKTKVARKTLE
PLYQQLLSFEESPQGKVLQIIVWGDYGRMDHKSFMGVAQILLDELELSNMVIGWFKLFPP
SSLVDPTLAPLTRRASQSSLESSTGPSYSRS

Sequence length

1411

Interactions

View interactions

	KEGG
	Insulin secretion

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cone-rod synaptic disorder syndrome, congenital nonprogressive	Pathogenic	rs2093332969, rs1449861708, rs2099348315, rs2095850849, rs2099199060	RCV001250786 RCV001250787 RCV001250788 RCV001250789 RCV001250790
Cone-rod synaptic disorder, congenital nonprogressive	Likely pathogenic	rs201192656	RCV005356271

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
RIMS2-related disorder	Uncertain significance	rs2548783184, rs2099199231	RCV003399961 RCV003402091

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33021972
Breast Neoplasms	Associate	33879671
Carcinoma Hepatocellular	Associate	34634948
Cognition Disorders	Associate	33958783
Colorectal Neoplasms	Associate	37020199
Dementia	Associate	28600779
Disease	Associate	32470375
Genetic Diseases Inborn	Associate	32470375
Glucose Metabolism Disorders	Associate	32470375
Hearing Loss Functional	Associate	32470375
Heredodegenerative Disorders Nervous System	Associate	32470375
Hirschsprung Disease	Associate	37679133
Inflammation	Associate	34965181
Intellectual Disability	Associate	28600779
Liver Failure	Associate	30692208
Medulloblastoma	Associate	30402980
Melanoma	Associate	32241263
Neoplasms	Associate	34634948, 34965181, 37679133
Neoplasms	Inhibit	37020199, 37839635
Night blindness congenital stationary	Associate	32470375
Oligodendroglioma	Associate	14997935
Pancreatitis	Associate	32470375
Parkinson Disease	Associate	33958783
Periodontitis	Associate	34101221
Triple Negative Breast Neoplasms	Associate	33879671

RIMS2 (regulating synaptic membrane exocytosis 2)