Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9699
Gene name Gene Name - the full gene name approved by the HGNC.
Regulating synaptic membrane exocytosis 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RIMS2
Synonyms (NCBI Gene) Gene synonyms aliases
CRSDS, OBOE, RAB3IP3, RIM2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CRSDS
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17474147
GO:0006886 Process Intracellular protein transport IEA
GO:0010628 Process Positive regulation of gene expression ISS
GO:0017156 Process Calcium-ion regulated exocytosis ISS
GO:0017157 Process Regulation of exocytosis ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606630 17283 ENSG00000176406
Protein
UniProt ID 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
WFYNS
GSNTPQQPDQKVLRGLRNEEAPQEKKPKLHEQTQFQGPSGDLSVPAVEKSRSHGL
TRQHSIKNGSGVKHHIASDIASDRKRSPSVSRDQNRRYDQREEREEYSQYATSDTAMPRS
PSDYADRRSQHEPQFYEDSDHLSYRDSNRRSHRHSKEYIVDDEDVESRDEYERQRREEEY
QSRYRSDPNLARYPVKPQPYEEQMRIHAEVSRARHERRHSDVSLANADLEDSRISMLRMD
RPSRQRSISERRAAMENQRSYSMERTREAQGPSSYAQRTTNHSPPTPRRSPLPIDRPDLR
RTDSLRKQHHLDPSSAVRKTKREKMETMLRNDSLSSDQSESVRPPPPKPHKSKKGGKMRQ
ISLSSSEEELASTPEYTSCDDVEIESESVSEKGDSQKGKRKTSEQAVLSDSNTRSERQKE
MMYFGGHSLEEDLEWSEPQIKDSGVDTCSSTTLNEEHSHSDKHPVTWQPSKDGDRLIGRI
LLNKRLKDGSVPRDSGAMLGLKVVGGKMTESGRLCAFITKVKKGSLADTVGHLRPGDEVL
EWNGRLLQGATFEEVYNIILESKPEPQVELVVSR
PIGDIPRIPDSTHAQLESSSSSFESQ
KMDRPSISVTSPMSPGMLRDVPQFLSGQLSIKLWFDKVGHQLIVTILGAKDLPSREDGRP
RNPYVKIYFLPDRSDKNKRRTKTVKKTLEPKWNQTFIYSPVHRREFRERMLEITLWDQAR
VREEESEFLGEILIELETALLDDEPHWYKL
QTHDVSSLPLPHPSPYMPRRQLHGESPTRR
LQRSKRISDSEVSDYDCDDGIGVVSDYRHDGRDLQSSTLSVPEQVMSSNHCSPSGSPHRV
DVIGRTRSWSPSVPPPQSRNVEQGLRGTRTMTGHYNTISRMDRHRVMDDHYSPDRDRDCE
AADRQPYHRSRSTEQRPLLERTTTRSRSTERPDTNLMRSMPSLMTGRSAPPSPALSRSHP
RTGSVQTSPSSTPVAGRRGRQLPQLPPKGTLDRKAGGKKLRSTVQRSTETGLAVEMRNWM
TRQASRESTDGSMNSYSSEGNLIFPGVRLASDSQFSDFLDGLGPAQLVGRQTLATPAMGD
IQVGMMDKKGQLEVEIIRARGLVVKPGSKTLPAPYVKVYLLDNGVCIAKKKTKVARKTLE
PLYQQLLSFEESPQGKVLQIIVWGDYGRMDHKSFMGVAQILLDELELSNMVIGWFKL
FPP
SSLVDPTLAPLTRRASQSSLESSTGPSYSRS
Sequence length 1411
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Insulin secretion  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Lung carcinoma Small cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
22941189
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
18490030
Unknown
Disease term Disease name Evidence References Source
Cone Dystrophy cone-rod synaptic disorder syndrome, congenital nonprogressive GenCC
Monoclonal Gammapathies Monoclonal Gammapathies GWAS
Restless Legs Syndrome Restless Legs Syndrome GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
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