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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RIMS4 Gene

protein-coding   GIFtS: 47
GCID: GC20M043380

Regulating Synaptic Membrane Exocytosis 4

(Previous name: chromosome 20 open reading frame 190)
(Previous symbol: C20orf190)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Regulating Synaptic Membrane Exocytosis 41 2     RIM-42
C20orf1901 2 3     RIM42
Rab3-Interacting Molecule 42 3     RIM4-gamma2
RIM 42 3     RIM4gamma2
RIM4 Gamma2 3     Regulating Synaptic Membrane Exocytosis Protein 42
Chromosome 20 Open Reading Frame 1901     

External Ids:    HGNC: 161831   Entrez Gene: 1407302   Ensembl: ENSG000001010987   OMIM: 6116015   UniProtKB: Q9H4263   

Export aliases for RIMS4 gene to outside databases

Previous GC identifers: GC20U900082 GC20M044070 GC20M044065 GC20M042813 GC20M040121


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for RIMS4 Gene: 
RIMS4 (regulating synaptic membrane exocytosis 4) is a protein-coding gene. Diseases associated with RIMS4 include polydactyly. An important paralog of this gene is RIMS1.

UniProtKB/Swiss-Prot: RIMS4_HUMAN, Q9H426
Function: Regulates synaptic membrane exocytosis (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011362.10  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RIMS4 gene promoter:
         Pax-5   SREBP-1c   ATF-2   NRSF form 1   NRSF form 2   SREBP-1b   RORalpha1   CRE-BP1   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRIMS4 promoter sequence
   Search SABiosciences Chromatin IP Primers for RIMS4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RIMS4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q13.12   Ensembl cytogenetic band:  20q13.12   HGNC cytogenetic band: 20q13.12

RIMS4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIMS4 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M043380:  view genomic region     (about GC identifiers)

Start:
43,380,445 bp from pter      End:
43,438,979 bp from pter
Size:
58,535 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RIMS4_HUMAN, Q9H426 (See protein sequence)
Recommended Name: Regulating synaptic membrane exocytosis protein 4  
Size: 269 amino acids; 29329 Da
Subunit: Binds PPFIA3 (By similarity). Does not bind RAB3
Subcellular location: Cell junction, synapse (By similarity)
Secondary accessions: A4FU94 E1P613 Q3MI44 Q5JWT7
Alternative splicing: 2 isoforms:  Q9H426-1   Q9H426-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RIMS4: NX_Q9H426

Explore proteomics data for RIMS4 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9H426

  • RIMS4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RIMS4 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001192246.1  NP_892015.1  

    ENSEMBL proteins: 
     ENSP00000361942   ENSP00000439287  

    Human Recombinant Protein Products for RIMS4: 
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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RIMS4 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030054cell junction IEA--
    GO:0097060synaptic membrane IEA--

    RIMS4 for ontologies           About GeneDecksing



    RIMS4 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR018029 C2_membr_targeting
     IPR008973 C2_Ca/lipid-bd_dom_CaLB
     IPR000008 C2_Ca-dep

    Graphical View of Domain Structure for InterPro Entry Q9H426

    ProtoNet protein and cluster: Q9H426

    1 Blocks protein domain: IPB000008 C2 domain

    UniProtKB/Swiss-Prot: RIMS4_HUMAN, Q9H426
    Similarity: Contains 1 C2 domain


    RIMS4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIMS4_HUMAN, Q9H426
    Function: Regulates synaptic membrane exocytosis (By similarity)

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0044325ion channel binding IEA--
         
    RIMS4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RIMS4:
     Decreased Tat-dependent transc 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RIMS4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RIMS4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RIMS4 
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    miRNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIMS4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RIMS4

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006836neurotransmitter transport IEA--
    GO:0006887exocytosis IEA--
    GO:0042391regulation of membrane potential IEA--

    RIMS4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RIMS4

    Search CenterWatch for drugs/clinical trials and news about RIMS4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RIMS4 gene (2 alternative transcripts): 
    NM_001205317.1  NM_182970.3  

    Unigene Cluster for RIMS4:

    Regulating synaptic membrane exocytosis 4
    Hs.517065  [show with all ESTs]
    Unigene Representative Sequence: NM_001205317
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000372851(uc010ggu.3 uc002xms.3) ENST00000541604
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RIMS4
    8/101 QIAGEN miScript miRNA Assays for microRNAs that regulate RIMS4 (see all 101):
    hsa-miR-1321 hsa-miR-1914* hsa-miR-938 hsa-miR-877* hsa-miR-149 hsa-miR-761 hsa-miR-3612 hsa-miR-490-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    OriGene ORF clones in mouse, rat for RIMS4
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RIMS4
    Sirion Biotech Customized lentivirus for stable overexpression of RIMS4 
                         Customized lentivirus expression plasmids for stable overexpression of RIMS4 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RIMS4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RIMS4

    Additional mRNA sequence: 

    AK055698.1 AK095716.1 AK124626.1 AK126807.1 AY326954.1 BC036612.2 BC104190.1 BC104191.1 
    BC112985.1 BX648947.1 

    4 DOTS entries:

    DT.65287302  DT.110291  DT.120810360  DT.120810452 

    24/92 AceView cDNA sequences (see all 92):

    AW206818 BU167487 AI218940 AI879054 AL040526 NM_182970 AK055698 BU729025 
    AA833714 T33629 AA351616 Z39210 AW207186 AY326954 AK124626 BQ881878 
    BI753244 BX328912 BQ918752 BE045709 BE858512 BX280015 BM475355 AW024077 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RIMS4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGAAATTAA
    RIMS4 Expression
    About this image


    See RIMS4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RIMS4

    SOURCE GeneReport for Unigene cluster: Hs.517065
        SABiosciences Custom PCR Arrays for RIMS4
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    OriGene qSTAR qPCR primer pairs in human, mouse for RIMS4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RIMS4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for RIMS4 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rims41 , 5 regulating synaptic membrane exocytosis 41, 5 92.32(n)1
    99.26(a)1
      2 (84.52 cM)5
    2417701  NM_183023.11  NP_898844.11 
     1638597515 
    chicken
    (Gallus gallus)
    Aves RIMS41 regulating synaptic membrane exocytosis 4 81.66(n)
    93.31(a)
      428142  XM_425700.2  XP_425700.2 
    lizard
    (Anolis carolinensis)
    Reptilia RIMS46
    Uncharacterized protein
    93(a)
    1 ↔ 1
    4(143725845-143806772)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5709231 regulating synaptic membrane exocytosis protein 4-like 76.12(n)
    84.33(a)
      570923  XM_694455.4  XP_699547.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG439556
    Rim6
    Rim
    5(a)
    4(a)
    possible ortholog
    1 ↔ many
    3L(2655414-2711690)
    3R(13698470-13742300)
    worm
    (Caenorhabditis elegans)
    Secernentea unc-106
    F45E4.36
    Protein F45E4.3, isoform a
    6(a)
    1(a)
    1 ↔ many
    possible ortholog
    X(7272324-7280320)
    IV(7619630-7628234)


    ENSEMBL Gene Tree for RIMS4 (if available)
    TreeFam Gene Tree for RIMS4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RIMS4 gene
    RIMS12  RIMS32  RIMS22  
    4 SIMAP similar genes for RIMS4 using alignment to 2 protein entries:     RIMS4_HUMAN (see all proteins):
    RIMS2    RIMS3    RIMS1    CHR11SYT

    RIMS4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1154 SNPs in RIMS4 are shown (see all 1154)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1447157871,2
    C--43381465(+) AGGCT-/AATGGC 2 -- ut310--------
    rs116996871,2
    C,H--43381535(+) GTCAGA/CTGGGC 2 -- ut31 ese31Minor allele frequency- C:0.00NA 2
    rs1155951121,2
    C--43381559(+) GAGCTC/GAGTCT 2 -- ut310--------
    rs1899389711,2
    --43381698(+) GCAACA/GGTCTC 2 -- ut310--------
    rs1393049711,2
    C--43381745(+) CCCCTC/TTGCAC 2 -- ut310--------
    rs1931991651,2
    --43381899(+) TGGCAG/TCCCCA 2 -- ut310--------
    rs1123786561,2
    C,F--43381954(+) GGACCC/AAGGCT 2 -- ut311Minor allele frequency- A:0.50WA 2
    rs130391411,2
    H--43381956(+) ACCCAG/TGCTGG 2 -- ut31 ese34Minor allele frequency- T:0.00NS EA 390
    rs283736511,2
    C--43381988(+) TGACTC/TCAGGG 2 -- ut31 ese35Minor allele frequency- T:0.09WA CSA NA EA 361
    rs1465779721,2
    C--43382102(+) AGATGC/GCTCCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for RIMS4 (43380445 - 43438979 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for RIMS4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv458985CNV Gain19166990

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for RIMS4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 611601    OMIM disorders: --

    2 diseases for RIMS4:    About MalaCards
    polydactyly    

    1 disease from the University of Copenhagen DISEASES database for RIMS4:
    Polydactyly

    RIMS4 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RIMS4
    Human Genome Epidemiology (HuGE) Navigator: RIMS4 (2 documents)

    Export disorders for RIMS4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RIMS4 gene, integrated from 9 sources (see all 12):
    (articles sorted by number of sources associating them with RIMS4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic definition of RIM proteins: evolutionary amplification of a family of synaptic regulatory proteins. (PubMed id 12620390)1, 2, 3 Wang Y. and Suedhof T.C. (2003)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    5. A yeast two-hybrid screen reveals that osteopontin ass ociates with MAP1A and MAP1B in addition to other proteins linked to microtubule stability, apoptosis and protein degradation in the human brain. (PubMed id 22779921)1 Long P....Rose S. (2012)
    6. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    7. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    8. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    9. Genetic associations of variants in genes encoding HI V-dependency factors required for HIV-1 infection. (PubMed id 21083371)4 Chinn L.W....O'Brien S.J. (2010)
    10. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 140730 HGNC: 16183 AceView: RIMS4 Ensembl:ENSG00000101098 euGenes: HUgn140730
    ECgene: RIMS4 H-InvDB: RIMS4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RIMS4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RIMS4 gene:
    Search GeneIP for patents involving RIMS4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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