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-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this... See more...

Aliases for RIMS2 Gene

Aliases for RIMS2 Gene

  • Regulating Synaptic Membrane Exocytosis 2 2 3 5
  • Regulating Synaptic Membrane Exocytosis Protein 2 3 4
  • Rab-3-Interacting Molecule 2 3 4
  • Rab-3-Interacting Protein 3 3 4
  • RAB3 Interacting Protein 3 2 3
  • RAB3IP3 3 4
  • RIM2 3 4
  • Non-Small Cell Lung Cancer RimL3a Protein 3
  • Non-Small Cell Lung Cancer RimL3c Protein 3
  • Rab3-Interacting Molecule 2 3
  • Rab3-Interacting Protein 3
  • Nuclear Protein 3
  • KIAA0751 4
  • RIM 2 4
  • OBOE 3

External Ids for RIMS2 Gene

Previous HGNC Symbols for RIMS2 Gene

  • RAB3IP3

Previous GeneCards Identifiers for RIMS2 Gene

  • GC08P103836
  • GC08P104899
  • GC08P104182
  • GC08P104469
  • GC08P104582
  • GC08P099713

Summaries for RIMS2 Gene

Entrez Gene Summary for RIMS2 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-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]

GeneCards Summary for RIMS2 Gene

RIMS2 (Regulating Synaptic Membrane Exocytosis 2) is a Protein Coding gene. Diseases associated with RIMS2 include Amusia and Scoliosis. Among its related pathways are Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and ion channel binding. An important paralog of this gene is RIMS1.

UniProtKB/Swiss-Prot Summary for RIMS2 Gene

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

Gene Wiki entry for RIMS2 Gene

Additional gene information for RIMS2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIMS2 Gene

Genomics for RIMS2 Gene

GeneHancer (GH) Regulatory Elements for RIMS2 Gene

Promoters and enhancers for RIMS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J103498 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 526.7 -0.3 -310 4.3 ZNF217 ZNF639 CTCF ZIC2 REST ZBTB10 ZNF423 ZBTB26 SAP30 KLF4 RIMS2 ENSG00000253477 ENSG00000285982 LOC105375690 lnc-RIMS2-1
GH08J103819 Promoter 0.6 EPDnew 500.1 +318.6 318608 0.1 EP300 MAFK PRDM1 ZBTB44 RIMS2 RF00017-7249 HSALNG0067544
GH08J103478 Enhancer 0.5 Ensembl 37.9 -21.0 -21041 0.8 CTBP1 DPF2 JUND TCF7L2 GATA3 SMARCE1 FOS FOSL2 CREB1 RIMS2 ENSG00000253477 ENSG00000271830 ENSG00000261670 ENSG00000285982
GH08J103707 Enhancer 0.8 Ensembl ENCODE 19.7 +206.8 206759 2.4 CTCF RAD21 MYC FOXA2 SMC3 FOXA1 ZNF189 ZNF654 ZBTB7B GATA3 RIMS2 ENSG00000253477 piR-32325-199 RPS6P9
GH08J103645 Enhancer 0.6 Ensembl ENCODE 26.9 +144.9 144907 4.3 CREB1 NANOG TAF7 RIMS2 ENSG00000253477 LRP12 TARBP2P1 piR-30876-107
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIMS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIMS2

Top Transcription factor binding sites by QIAGEN in the RIMS2 gene promoter:
  • ATF
  • c-Myc
  • CREB
  • FOXJ2
  • FOXJ2 (long isoform)
  • Hlf
  • Max1
  • NF-AT1
  • NF-AT2
  • NF-AT3

Genomic Locations for RIMS2 Gene

Genomic Locations for RIMS2 Gene
chr8:103,500,642-104,256,094
(GRCh38/hg38)
Size:
755,453 bases
Orientation:
Plus strand
chr8:104,512,976-105,268,322
(GRCh37/hg19)
Size:
755,347 bases
Orientation:
Plus strand

Genomic View for RIMS2 Gene

Genes around RIMS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIMS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIMS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIMS2 Gene

Proteins for RIMS2 Gene

  • Protein details for RIMS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UQ26-RIMS2_HUMAN
    Recommended name:
    Regulating synaptic membrane exocytosis protein 2
    Protein Accession:
    Q9UQ26
    Secondary Accessions:
    • B3KX91
    • F8WD47
    • O43413
    • Q86XL9
    • Q8IWV9
    • Q8IWW1

    Protein attributes for RIMS2 Gene

    Size:
    1411 amino acids
    Molecular mass:
    160403 Da
    Quaternary structure:
    • Interacts with RAB3A and RAB3B that have been activated by GTP-binding. Interacts with RAB3C, RAB3D and RAB26. Interacts with TSPOAP1 and RIMBP2. Interacts with PPFIA3 and PPFIA4. Interacts via its zinc finger with the first C2 domain of UNC13A. Forms a complex consisting of UNC13A, RIMS2 and RAB3A. Heterodimer with PCLO. Part of a ternary complex involving PCLO and EPAC2 (By similarity).
    Miscellaneous:
    • [Isoform 2]: May be due to an intron retention.
    • [Isoform 4]: May be due to an intron retention.
    • [Isoform 5]: May be due to an intron retention.
    SequenceCaution:
    • Sequence=BAA34471.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RIMS2 Gene

    Alternative splice isoforms for RIMS2 Gene

neXtProt entry for RIMS2 Gene

Post-translational modifications for RIMS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIMS2 Gene

Domains & Families for RIMS2 Gene

Gene Families for RIMS2 Gene

Protein Domains for RIMS2 Gene

Blocks:
  • C2 domain
  • PDZ/DHR/GLGF domain
  • Zn-finger, FYVE type
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RIMS2 Gene

GenScript: Design optimal peptide antigens:
  • RIMS2 protein (Q4G1C6_HUMAN)
  • Rab3-interacting protein (Q6YBN2_HUMAN)
  • Rab-3-interacting protein 3 (RIMS2_HUMAN)
genes like me logo Genes that share domains with RIMS2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for RIMS2 Gene

Function for RIMS2 Gene

Molecular function for RIMS2 Gene

UniProtKB/Swiss-Prot Function:
Rab effector involved in exocytosis. May act as scaffold protein. Plays a role in dendrite formation by melanocytes (PubMed:23999003).

Phenotypes From GWAS Catalog for RIMS2 Gene

Gene Ontology (GO) - Molecular Function for RIMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17474147
GO:0017137 Rab GTPase binding IBA 21873635
GO:0044325 ion channel binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RIMS2: view
genes like me logo Genes that share phenotypes with RIMS2: view

Animal Models for RIMS2 Gene

MGI Knock Outs for RIMS2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMS2

Clone Products

  • Addgene plasmids for RIMS2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RIMS2 Gene

Localization for RIMS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIMS2 Gene

Cell membrane; Peripheral membrane protein. Cell junction, synapse. Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIMS2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 4
nucleus 3
cytosol 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RIMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
GO:0042734 presynaptic membrane IBA 21873635
GO:0045202 synapse IBA 21873635
genes like me logo Genes that share ontologies with RIMS2: view

Pathways & Interactions for RIMS2 Gene

PathCards logo

SuperPathways for RIMS2 Gene

SuperPathway Contained pathways
1 Aldosterone synthesis and secretion
genes like me logo Genes that share pathways with RIMS2: view

Pathways by source for RIMS2 Gene

1 KEGG pathway for RIMS2 Gene

Gene Ontology (GO) - Biological Process for RIMS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006887 exocytosis IEA --
GO:0010628 positive regulation of gene expression ISS --
GO:0017156 calcium ion regulated exocytosis ISS --
GO:0017157 regulation of exocytosis ISS --
genes like me logo Genes that share ontologies with RIMS2: view

No data available for SIGNOR curated interactions for RIMS2 Gene

Drugs & Compounds for RIMS2 Gene

(1) Drugs for RIMS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RIMS2: view

Transcripts for RIMS2 Gene

mRNA/cDNA for RIMS2 Gene

30 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMS2

Clone Products

  • Addgene plasmids for RIMS2

Alternative Splicing Database (ASD) splice patterns (SP) for RIMS2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b ^
SP1: - - -
SP2: - - - -
SP3:
SP4:
SP5:

ExUns: 25a · 25b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for RIMS2 Gene

GeneLoc Exon Structure for
RIMS2

Expression for RIMS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIMS2 Gene

mRNA differential expression in normal tissues according to GTEx for RIMS2 Gene

This gene is overexpressed in Adrenal Gland (x5.4), Brain - Amygdala (x5.4), Brain - Frontal Cortex (BA9) (x5.1), Brain - Cortex (x5.0), Brain - Putamen (basal ganglia) (x4.7), and Brain - Anterior cingulate cortex (BA24) (x4.7).

Protein differential expression in normal tissues from HIPED for RIMS2 Gene

This gene is overexpressed in Vitreous humor (56.3) and Plasma (9.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RIMS2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIMS2

SOURCE GeneReport for Unigene cluster for RIMS2 Gene:

Hs.655271

mRNA Expression by UniProt/SwissProt for RIMS2 Gene:

Q9UQ26-RIMS2_HUMAN
Tissue specificity: Expressed in melanocytes (PubMed:23999003).

Evidence on tissue expression from TISSUES for RIMS2 Gene

  • Nervous system(4.8)
  • Adrenal gland(2)
genes like me logo Genes that share expression patterns with RIMS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIMS2 Gene

Orthologs for RIMS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for RIMS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIMS2 31 30
  • 99.68 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 98 (a)
OneToMany
-- 31
  • 92 (a)
OneToMany
-- 31
  • 87 (a)
OneToMany
-- 31
  • 64 (a)
OneToMany
-- 31
  • 51 (a)
OneToMany
dog
(Canis familiaris)
Mammalia RIMS2 31 30
  • 92.62 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rims2 30
  • 89.76 (n)
mouse
(Mus musculus)
Mammalia Rims2 17 31 30
  • 88.87 (n)
cow
(Bos Taurus)
Mammalia RIMS2 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RIMS2 31
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIMS2 31 30
  • 84.91 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIMS2 31
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rims2 30
  • 79.36 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.15988 30
zebrafish
(Danio rerio)
Actinopterygii RIMS2 (5 of 5) 31
  • 83 (a)
OneToMany
rims2a 31
  • 66 (a)
OneToMany
RIMS2 (4 of 5) 31
  • 61 (a)
OneToMany
rims1b 31
  • 49 (a)
OneToMany
rims2b 31
  • 35 (a)
OneToMany
zgc73064 30
fruit fly
(Drosophila melanogaster)
Insecta Rim 31 32
  • 17 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-10 31 32
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.1713 31
  • 31 (a)
OneToMany
Species where no ortholog for RIMS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RIMS2 Gene

ENSEMBL:
Gene Tree for RIMS2 (if available)
TreeFam:
Gene Tree for RIMS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RIMS2: view image

Paralogs for RIMS2 Gene

Paralogs for RIMS2 Gene

(7) SIMAP similar genes for RIMS2 Gene using alignment to 7 proteins:

  • RIMS2_HUMAN
  • D6RA03_HUMAN
  • D6RDY0_HUMAN
  • E5RI36_HUMAN
  • E9PFB6_HUMAN
  • F8W6W8_HUMAN
  • Q4G1C6_HUMAN
genes like me logo Genes that share paralogs with RIMS2: view

Variants for RIMS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIMS2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1057518581 Uncertain Significance: not specified 104,014,574(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for RIMS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RIMS2 Gene

Variant ID Type Subtype PubMed ID
dgv1409e214 CNV loss 21293372
dgv7279n100 CNV gain 25217958
esv1006039 CNV deletion 20482838
esv24057 CNV gain 19812545
esv2528242 CNV deletion 19546169
esv26529 CNV loss 19812545
esv2660009 CNV deletion 23128226
esv2668771 CNV deletion 23128226
esv275553 CNV loss 21479260
esv2762762 CNV gain 21179565
esv28217 CNV loss 19812545
esv32618 CNV loss 17666407
esv3306700 CNV mobile element insertion 20981092
esv3326120 CNV insertion 20981092
esv3337196 CNV insertion 20981092
esv3349588 CNV insertion 20981092
esv3413230 CNV insertion 20981092
esv3572927 CNV loss 25503493
esv3618254 CNV loss 21293372
esv3618255 CNV loss 21293372
esv3618262 CNV gain 21293372
esv3618265 CNV loss 21293372
esv3618266 CNV loss 21293372
esv3618268 CNV gain 21293372
esv3618269 CNV loss 21293372
esv3891453 CNV gain 25118596
nsv1031195 CNV loss 25217958
nsv1151282 CNV duplication 26484159
nsv465753 CNV loss 19166990
nsv475930 CNV novel sequence insertion 20440878
nsv483082 CNV loss 15286789
nsv611833 CNV loss 21841781
nsv611834 CNV loss 21841781
nsv611835 CNV loss 21841781
nsv6336 CNV insertion 18451855
nsv819897 CNV loss 19587683
nsv831415 CNV loss 17160897
nsv831416 CNV gain 17160897
nsv971691 CNV duplication 23825009

Variation tolerance for RIMS2 Gene

Residual Variation Intolerance Score: 54.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.53; 85.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIMS2 Gene

Human Gene Mutation Database (HGMD)
RIMS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIMS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIMS2 Gene

Disorders for RIMS2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for RIMS2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
amusia
  • receptive amusia
scoliosis
cone-rod dystrophy 7
  • cord7
ideomotor apraxia
  • classic apraxia
laryngotracheitis
- elite association - COSMIC cancer census association via MalaCards
Search RIMS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for RIMS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RIMS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIMS2 Gene

Publications for RIMS2 Gene

  1. Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. (PMID: 12578829) Fukuda M (The Journal of biological chemistry 2003) 2 3 23 54
  2. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 54
  3. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. (PMID: 23999003) Yoo JC … Yoon TJ (Journal of dermatological science 2013) 3 4 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction. (PMID: 20520587) Nielsen DA … Kreek MJ (Psychiatric genetics 2010) 3 41 54

Products for RIMS2 Gene

Sources for RIMS2 Gene