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RIMS2 (regulating synaptic membrane exocytosis 2)

Identity

Alias_namesRAB3IP3
RAB3 interacting protein 3
Alias_symbol (synonym)KIAA0751
RIM2
OBOE
Other alias
HGNC (Hugo) RIMS2
LocusID (NCBI) 9699
Atlas_Id 47396
Location 8q22.3  [Link to chromosome band 8q22]
Location_base_pair Starts at 103500748 and ends at 104254428 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
BAALC (8q22.3) / RIMS2 (8q22.3)CSMD3 (8q23.3) / RIMS2 (8q22.3)FXR1 (3q26.33) / RIMS2 (8q22.3)
LRP12 (8q22.3) / RIMS2 (8q22.3)PHLDB2 (3q13.2) / RIMS2 (8q22.3)RIMS2 (8q22.3) / ATP6V1C1 (8q22.3)
RIMS2 (8q22.3) / BAALC (8q22.3)RIMS2 (8q22.3) / ODF1 (8q22.3)RIMS2 (8q22.3) / PTGIS (20q13.13)
RIMS2 (8q22.3) / RIMS2 (8q22.3)ZNF462 (9q31.2) / RIMS2 (8q22.3)CSMD3 8q23.3 / RIMS2 8q22.3
FXR1 3q26.33 / RIMS2 8q22.3LRP12 8q22.3 / RIMS2 8q22.3PHLDB2 3q13.2 / RIMS2 8q22.3
RIMS2 8q22.3 / BAALC 8q22.3RIMS2 8q22.3 / ODF1 8q22.3RIMS2 8q22.3 / PTGIS 20q13.13

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)RIMS2   17283
Cards
Entrez_Gene (NCBI)RIMS2  9699  regulating synaptic membrane exocytosis 2
AliasesOBOE; RAB3IP3; RIM2
GeneCards (Weizmann)RIMS2
Ensembl hg19 (Hinxton)ENSG00000176406 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000176406 [Gene_View]  chr8:103500748-104254428 [Contig_View]  RIMS2 [Vega]
ICGC DataPortalENSG00000176406
TCGA cBioPortalRIMS2
AceView (NCBI)RIMS2
Genatlas (Paris)RIMS2
WikiGenes9699
SOURCE (Princeton)RIMS2
Genetics Home Reference (NIH)RIMS2
Genomic and cartography
GoldenPath hg38 (UCSC)RIMS2  -     chr8:103500748-104254428 +  8q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RIMS2  -     8q22.3   [Description]    (hg19-Feb_2009)
EnsemblRIMS2 - 8q22.3 [CytoView hg19]  RIMS2 - 8q22.3 [CytoView hg38]
Mapping of homologs : NCBIRIMS2 [Mapview hg19]  RIMS2 [Mapview hg38]
OMIM606630   
Gene and transcription
Genbank (Entrez)AB018294 AF007156 AK126939 AK307790 AK308831
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RIMS2
Cluster EST : UnigeneHs.735969 [ NCBI ]
CGAP (NCI)Hs.735969
Alternative Splicing GalleryENSG00000176406
Gene ExpressionRIMS2 [ NCBI-GEO ]   RIMS2 [ EBI - ARRAY_EXPRESS ]   RIMS2 [ SEEK ]   RIMS2 [ MEM ]
Gene Expression Viewer (FireBrowse)RIMS2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9699
GTEX Portal (Tissue expression)RIMS2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UQ26   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UQ26  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UQ26
Splice isoforms : SwissVarQ9UQ26
PhosPhoSitePlusQ9UQ26
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    PDZ (PS50106)    RABBD (PS50916)    ZF_FYVE (PS50178)   
Domains : Interpro (EBI)C2_dom    PDZ    Rab_BD    RIM2    Znf_FYVE-rel    Znf_FYVE_PHD    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)C2 (PF00168)    FYVE_2 (PF02318)   
Domain families : Pfam (NCBI)pfam00168    pfam02318   
Domain families : Smart (EMBL)C2 (SM00239)  PDZ (SM00228)  
Conserved Domain (NCBI)RIMS2
DMDM Disease mutations9699
Blocks (Seattle)RIMS2
PDB (SRS)1V27    1WFG   
PDB (PDBSum)1V27    1WFG   
PDB (IMB)1V27    1WFG   
PDB (RSDB)1V27    1WFG   
Structural Biology KnowledgeBase1V27    1WFG   
SCOP (Structural Classification of Proteins)1V27    1WFG   
CATH (Classification of proteins structures)1V27    1WFG   
SuperfamilyQ9UQ26
Human Protein AtlasENSG00000176406
Peptide AtlasQ9UQ26
HPRD09436
IPIIPI00005698   IPI00942680   IPI00873023   IPI00396227   IPI00339350   IPI00249249   IPI00398789   IPI00430634   IPI01015793   IPI00470892   IPI00966071   IPI00966469   IPI00967324   IPI00939255   
Protein Interaction databases
DIP (DOE-UCLA)Q9UQ26
IntAct (EBI)Q9UQ26
FunCoupENSG00000176406
BioGRIDRIMS2
STRING (EMBL)RIMS2
ZODIACRIMS2
Ontologies - Pathways
QuickGOQ9UQ26
Ontology : AmiGOprotein binding  intracellular  intracellular protein transport  positive regulation of gene expression  Rab GTPase binding  calcium ion regulated exocytosis  regulation of exocytosis  cAMP-mediated signaling  cell junction  insulin secretion  regulation of membrane potential  regulation of membrane potential  presynaptic membrane  ion channel binding  ion channel binding  metal ion binding  presynaptic active zone  calcium ion-regulated exocytosis of neurotransmitter  calcium ion-regulated exocytosis of neurotransmitter  spontaneous neurotransmitter secretion  extracellular exosome  positive regulation of inhibitory postsynaptic potential  positive regulation of dendrite extension  regulation of synaptic vesicle exocytosis  positive regulation of excitatory postsynaptic potential  
Ontology : EGO-EBIprotein binding  intracellular  intracellular protein transport  positive regulation of gene expression  Rab GTPase binding  calcium ion regulated exocytosis  regulation of exocytosis  cAMP-mediated signaling  cell junction  insulin secretion  regulation of membrane potential  regulation of membrane potential  presynaptic membrane  ion channel binding  ion channel binding  metal ion binding  presynaptic active zone  calcium ion-regulated exocytosis of neurotransmitter  calcium ion-regulated exocytosis of neurotransmitter  spontaneous neurotransmitter secretion  extracellular exosome  positive regulation of inhibitory postsynaptic potential  positive regulation of dendrite extension  regulation of synaptic vesicle exocytosis  positive regulation of excitatory postsynaptic potential  
Pathways : KEGGInsulin secretion   
NDEx NetworkRIMS2
Atlas of Cancer Signalling NetworkRIMS2
Wikipedia pathwaysRIMS2
Orthology - Evolution
OrthoDB9699
GeneTree (enSembl)ENSG00000176406
Phylogenetic Trees/Animal Genes : TreeFamRIMS2
HOVERGENQ9UQ26
HOGENOMQ9UQ26
Homologs : HomoloGeneRIMS2
Homology/Alignments : Family Browser (UCSC)RIMS2
Gene fusions - Rearrangements
Fusion : MitelmanCSMD3/RIMS2 [8q23.3/8q22.3]  [t(8;8)(q22;q23)]  
Fusion : MitelmanFXR1/RIMS2 [3q26.33/8q22.3]  [t(3;8)(q26;q22)]  
Fusion : MitelmanLRP12/RIMS2 [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion : MitelmanPHLDB2/RIMS2 [3q13.2/8q22.3]  [t(3;8)(q13;q22)]  
Fusion : MitelmanRIMS2/ATP6V1C1 [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion : MitelmanRIMS2/BAALC [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion : MitelmanRIMS2/ODF1 [8q22.3/8q22.3]  [t(8;8)(q22;q22)]  
Fusion : MitelmanRIMS2/PTGIS [8q22.3/20q13.13]  [t(8;20)(q22;q13)]  
Fusion: TCGACSMD3 8q23.3 RIMS2 8q22.3 BRCA
Fusion: TCGAFXR1 3q26.33 RIMS2 8q22.3 BRCA
Fusion: TCGALRP12 8q22.3 RIMS2 8q22.3 BRCA
Fusion: TCGAPHLDB2 3q13.2 RIMS2 8q22.3 LUSC
Fusion: TCGARIMS2 8q22.3 BAALC 8q22.3 BLCA BRCA
Fusion: TCGARIMS2 8q22.3 ODF1 8q22.3 BRCA
Fusion: TCGARIMS2 8q22.3 PTGIS 20q13.13 BRCA
Fusion Cancer (Beijing)BAALC [8q22.3]  -  RIMS2 [8q22.3]  [FUSC000516]  [FUSC000516]
Fusion Cancer (Beijing)RIMS2 [8q22.3]  -  BAALC [8q22.3]  [FUSC000573]  [FUSC000573]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRIMS2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RIMS2
dbVarRIMS2
ClinVarRIMS2
1000_GenomesRIMS2 
Exome Variant ServerRIMS2
ExAC (Exome Aggregation Consortium)RIMS2 (select the gene name)
Genetic variants : HAPMAP9699
Genomic Variants (DGV)RIMS2 [DGVbeta]
DECIPHERRIMS2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRIMS2 
Mutations
ICGC Data PortalRIMS2 
TCGA Data PortalRIMS2 
Broad Tumor PortalRIMS2
OASIS PortalRIMS2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRIMS2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRIMS2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch RIMS2
DgiDB (Drug Gene Interaction Database)RIMS2
DoCM (Curated mutations)RIMS2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RIMS2 (select a term)
intoGenRIMS2
Cancer3DRIMS2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606630   
Orphanet
MedgenRIMS2
Genetic Testing Registry RIMS2
NextProtQ9UQ26 [Medical]
TSGene9699
GENETestsRIMS2
Target ValidationRIMS2
Huge Navigator RIMS2 [HugePedia]
snp3D : Map Gene to Disease9699
BioCentury BCIQRIMS2
ClinGenRIMS2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9699
Chemical/Pharm GKB GenePA38445
Clinical trialRIMS2
Miscellaneous
canSAR (ICR)RIMS2 (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRIMS2
EVEXRIMS2
GoPubMedRIMS2
iHOPRIMS2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:13:02 CEST 2017

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