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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cone-rod synaptic disorder, congenital nonprogressive	Likely pathogenic	rs201192656	RCV005356271	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR POSITIVE BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESTLESS LEGS SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIMS2-related disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	21426945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Oligodendroglioma	Oligodendroglioma	BEFREE	14997935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33879671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34634948	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Oligodendroglioma	Oligodendroglioma	BEFREE	14997935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	33958783	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37020199	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	28600779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hermanski-Pudlak Syndrome	Hermansky-Pudlak Syndrome	BEFREE	9434937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	37679133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	28600779	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	30692208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	30402980	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32241263	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	2823272		★★★★★ ★☆☆☆☆ Found in Text Mining only
Night blindness congenital stationary	Night blindness, congenital stationary	Pubtator	32470375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
oligodendroglioma	Oligodendroglioma	BEFREE	14997935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	14997935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	32470375	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	33958783	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Periodontitis	Periodontitis	Pubtator	34101221	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	8978965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	18490030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18490030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18490030		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Small cell carcinoma of lung	Lung carcinoma	CTD_human_DG	22941189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33879671	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Well Differentiated Oligodendroglioma	Oligodendroglioma	BEFREE	14997935		★★★★★ ★☆☆☆☆ Found in Text Mining only

RIMS2 (regulating synaptic membrane exocytosis 2)