• Gene id: 9699

Gene Summary

• Gene Symbol: RIMS2   Gene   UCSC   Ensembl
• Aliases: OBOE, RAB3IP3, RIM2
• Gene name: regulating synaptic membrane exocytosis 2
• Alternate names: regulating synaptic membrane exocytosis protein 2, RAB3 interacting protein 3, Rab3-interacting protein, non-small cell lung cancer RimL3a protein, non-small cell lung cancer RimL3c protein, nuclear protein, rab-3-interacting molecule 2, rab-3-interacting protei,
• Gene location: 8q22.3 (103499933: 104256093)     Exons: 42     NC_000008.11
• Gene summary(Entrez): 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
• OMIM: 606630

Protein Summary

• Protein general information: Q9UQ26  
  • Name: Regulating synaptic membrane exocytosis protein 2 (Rab 3 interacting molecule 2) (RIM 2) (Rab 3 interacting protein 3)
  • Length: 1411  
  • Mass: 160403
  • Tissue specificity: Expressed in melanocytes (PubMed
• Sequence:

  MSAPVGPRGRLAPIPAASQPPLQPEMPDLSHLTEEERKIILAVMDRQKKKVKEEHKPQLTQWFPFSGITELVNNV
  LQPQQKQQNEKEPQTKLHQQFEMYKEQVKKMGEESQQQQEQKGDAPTCGICHKTKFADGCGHNCSYCQTKFCARC
  GGRVSLRSNKVMWVCNLCRKQQEILTKSGAWFYNSGSNTPQQPDQKVLRGLRNEEAPQEKKPKLHEQTQFQGPSG
  DLSVPAVEKSRSHGLTRQHSIKNGSGVKHHIASDIASDRKRSPSVSRDQNRRYDQREEREEYSQYATSDTAMPRS
  PSDYADRRSQHEPQFYEDSDHLSYRDSNRRSHRHSKEYIVDDEDVESRDEYERQRREEEYQSRYRSDPNLARYPV
  KPQPYEEQMRIHAEVSRARHERRHSDVSLANADLEDSRISMLRMDRPSRQRSISERRAAMENQRSYSMERTREAQ
  GPSSYAQRTTNHSPPTPRRSPLPIDRPDLRRTDSLRKQHHLDPSSAVRKTKREKMETMLRNDSLSSDQSESVRPP
  PPKPHKSKKGGKMRQISLSSSEEELASTPEYTSCDDVEIESESVSEKGDSQKGKRKTSEQAVLSDSNTRSERQKE
  MMYFGGHSLEEDLEWSEPQIKDSGVDTCSSTTLNEEHSHSDKHPVTWQPSKDGDRLIGRILLNKRLKDGSVPRDS
  GAMLGLKVVGGKMTESGRLCAFITKVKKGSLADTVGHLRPGDEVLEWNGRLLQGATFEEVYNIILESKPEPQVEL
  VVSRPIGDIPRIPDSTHAQLESSSSSFESQKMDRPSISVTSPMSPGMLRDVPQFLSGQLSIKLWFDKVGHQLIVT
  ILGAKDLPSREDGRPRNPYVKIYFLPDRSDKNKRRTKTVKKTLEPKWNQTFIYSPVHRREFRERMLEITLWDQAR
  VREEESEFLGEILIELETALLDDEPHWYKLQTHDVSSLPLPHPSPYMPRRQLHGESPTRRLQRSKRISDSEVSDY
  DCDDGIGVVSDYRHDGRDLQSSTLSVPEQVMSSNHCSPSGSPHRVDVIGRTRSWSPSVPPPQSRNVEQGLRGTRT
  MTGHYNTISRMDRHRVMDDHYSPDRDRDCEAADRQPYHRSRSTEQRPLLERTTTRSRSTERPDTNLMRSMPSLMT
  GRSAPPSPALSRSHPRTGSVQTSPSSTPVAGRRGRQLPQLPPKGTLDRKAGGKKLRSTVQRSTETGLAVEMRNWM
  TRQASRESTDGSMNSYSSEGNLIFPGVRLASDSQFSDFLDGLGPAQLVGRQTLATPAMGDIQVGMMDKKGQLEVE
  IIRARGLVVKPGSKTLPAPYVKVYLLDNGVCIAKKKTKVARKTLEPLYQQLLSFEESPQGKVLQIIVWGDYGRMD
  HKSFMGVAQILLDELELSNMVIGWFKLFPPSSLVDPTLAPLTRRASQSSLESSTGPSYSRS

• Structural information:
  • Protein Domains: (26..18-)
    (/note="RabBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00234-)
    (668..75-)
    (/note="PDZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00143-)
    (805..92-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR041282  IPR001478  IPR041489   IPR036034  IPR010911  IPR039032  IPR030631  IPR017455  IPR011011  IPR013083  
  • Prosite: PS50004 PS50106 PS50916 PS50178
  • PDB: 1V27 1WFG
  • PDBsum: 1V27 1WFG
  • STRING: ENSP00000262231
• Other Databases: GeneCards:  RIMS2  Malacards:  RIMS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000463	positive regulation of excitatory postsynaptic potential	ISS	biological process
GO:0044325	ion channel binding	ISS	molecular function
GO:0061669	spontaneous neurotransmitter secretion	ISS	biological process
GO:0061669	spontaneous neurotransmitter secretion	ISS	biological process
GO:0017156	calcium-ion regulated exocytosis	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0017157	regulation of exocytosis	ISS	biological process
GO:0019933	cAMP-mediated signaling	ISS	biological process
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	ISS	biological process
GO:0097151	positive regulation of inhibitory postsynaptic potential	ISS	biological process
GO:0030073	insulin secretion	ISS	biological process
GO:0042391	regulation of membrane potential	ISS	biological process
GO:0048786	presynaptic active zone	TAS	cellular component
GO:0042391	regulation of membrane potential	IBA	biological process
GO:0045202	synapse	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0042734	presynaptic membrane	IBA	cellular component
GO:0044325	ion channel binding	IBA	molecular function
GO:0048167	regulation of synaptic plasticity	IBA	biological process
GO:0048788	cytoskeleton of presynaptic active zone	IBA	cellular component
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IBA	biological process
GO:0050806	positive regulation of synaptic transmission	IBA	biological process
GO:0098831	presynaptic active zone cytoplasmic component	IBA	cellular component
GO:2000300	regulation of synaptic vesicle exocytosis	IBA	biological process
GO:0017137	Rab GTPase binding	IEA	molecular function
GO:0017157	regulation of exocytosis	IEA	biological process
GO:0048791	calcium ion-regulated exocytosis of neurotransmitter	IEA	biological process
GO:0006886	intracellular protein transport	IEA	biological process
GO:0006887	exocytosis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0048786	presynaptic active zone	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042734	presynaptic membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:1903861	positive regulation of dendrite extension	IDA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04911	Insulin secretion

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq