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

RIMBP3B Gene

protein-coding   GIFtS: 36
GCID: GC22P021759

RIMS binding protein 3B

 Explore 1 disease affiliated with
RIMBP3B via our new
 Human Malady Compendium 
Biological research products
for RIMBP3B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
RIMS Binding Protein 3B1 2     RIMBP3.22
RIM-BP3.22 3     RIMS Binding Protein 3.22
RIM-BP3.B2 3     RIMS-Binding Protein 3B2
RIMS-Binding Protein 3.22 3     

External Ids:    HGNC: 338911   Entrez Gene: 4408042   Ensembl: ENSG000001969347   OMIM: 6127005   UniProtKB: A6NNM33   

Export aliases for RIMBP3B gene to outside databases

Previous GC identifers: GC22P020067 GC22P021738


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RIMBP3B gene promoter:
         ER-alpha   USF1   Brachyury   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Egr-2   SRY   USF-1   COMP1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RIMBP3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RIMBP3B


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

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

RIMBP3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIMBP3B gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P021759:  view genomic region     (about GC identifiers)

Start:
21,737,663 bp from pter      End:
21,743,767 bp from pter
Size:
6,105 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RIM3B_HUMAN, A6NNM3 (See protein sequence)
Recommended Name: RIMS-binding protein 3B  
Size: 1639 amino acids; 180952 Da
Caution: It is uncertain whether Met-1 or Met-95 is the initiator

Explore the universe of human proteins at neXtProt for RIMBP3B: NX_A6NNM3

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_A6NNM3

  • RIMBP3B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001122107.1  
    ENSEMBL proteins: 
     ENSP00000349531   ENSP00000407925  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RIMBP3B for domains           About GeneDecksing

    4 InterPro domains/families:
     IPR011511 SH3_2
     IPR001452 SH3_domain
     IPR013783 Ig-like_fold
     IPR003961 Fibronectin_type3

    Graphical View of Domain Structure for InterPro Entry A6NNM3

    ProtoNet protein and cluster: A6NNM3

    UniProtKB/Swiss-Prot: RIM3B_HUMAN, A6NNM3
    Similarity: Belongs to the RIMBP family
    Similarity: Contains 2 fibronectin type-III domains
    Similarity: Contains 3 SH3 domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RIMBP3B

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
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    Browse Tocris compounds for RIMBP3B
    Search CenterWatch for drugs/clinical trials and news about RIMBP3B / RIM3B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RIMBP3B gene: 
    NM_001128635.1  

    Unigene Cluster for RIMBP3B:

    RIMS binding protein 3B
    Hs.568257  [show with all ESTs]
    Unigene Representative Sequence: NM_001128635
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357029 ENST00000434111(uc002zuq.4)

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    4 DOTS entries:

    DT.120647842  DT.91975520  DT.120629490  DT.95295994 

    24/37 AceView cDNA sequences (see all 37):

    AL039539 BE217742 AW268487 AL039540 AA969918 BX112696 BE883217 AA431178 
    AA311249 BC035246 BV193892 AA813520 AA406128 BV193887 AW086440 AL045442 
    BV176571 AB051453 BV197086 AW172455 AL041043 AA431504 BV197087 BV193890 

    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

    RIMBP3B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See RIMBP3B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RIMBP3B

    SOURCE GeneReport for Unigene cluster: Hs.568257
        SABiosciences Custom PCR Arrays for RIMBP3B
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    In Situ
    Assay Products:
     

     
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    (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 RIMBP3B gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    37(a)
    1 → many
    GL343312.1(18496-22269)
    zebrafish
    (Danio rerio)
    Actinopterygii CU633486.16
    --
    33(a)
    possible ortholog
    15(14394704-14400568)
    fruit fly
    (Drosophila melanogaster)
    Insecta Rbp6
    RIM-binding protein
    12(a)
    1 → many
    3R(11200424-11228265)
    worm
    (Caenorhabditis elegans)
    Secernentea tag-1686
    Temporarily Assigned Gene name family member (tag-...
    15(a)
    1 → many
    III(1789138-1806612)


    ENSEMBL Gene Tree for RIMBP3B (if available)
    TreeFam Gene Tree for RIMBP3B (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RIMBP3B gene
    RIMBP3C1 2  RIMBP31 2  BZRAP12  RIMBP22  
    2 SIMAP similar genes for RIMBP3B using alignment to 2 protein entries:     RIM3B_HUMAN (see all proteins):
    RIMBP3    RIMBP3C

    RIMBP3B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/24 NCBI SNPs in RIMBP3B are shown (see all 24    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs787767061,2
    C--21737865(-) TGCTAC/TTAGCA 1 -- us2k10--------
    rs2009246251,2
    --21738923(+) TGTGCA/GCTCCC 2 H R mis10--------
    rs2013646571,2
    --21739333(+) TGCAA-/GAGGAGAA 1 -- cds10--------
    rs1999124261,2
    --21740314(+) GAAGGC/TCCAAG 2 P S mis10--------
    rs2015281021,2
    --21740619(+) ATGGGA/GGGCTC 2 G syn10--------
    rs2007504741,2
    --21740751(+) ATCTTC/TGGGGA 2 F syn10--------
    rs2005869091,2
    --21740793(+) CTTGAC/GGATGG 2 D E mis10--------
    rs2020298471,2
    --21740907(+) CCAGCA/GGGGCA 2 A syn10--------
    rs1911021221,2
    --21740962(+) AGGGAA/GTGGTG 2 M V mis10--------
    rs1824935701,2
    C,--21741308(+) CCGGGC/TGCGGG 2 A V mis10--------

    HapMap Linkage Disequilibrium report for RIMBP3B (21737663 - 21743767 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 13 variations for RIMBP3B
         13 CNVs: 73765 73772 5173 2263 73773 90900 79463 0817 79461 90898 73759 38956 79464

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    RIMBP3B for disorders           About GeneDecksing

    OMIM gene information: 612700    OMIM disorders: --

    1 disease for RIMBP3B:    About MalaCards
    neuronitis


    Export disorders for RIMBP3B 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 RIMBP3B gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RIMBP3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and evolution of RIM-BP genes: identificati on of a novel family member. (PubMed id 17855024)1, 3 Mittelstaedt T. and Schoch S. (2007)
    2. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    3. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I....O'Brien K.P. (1999)

    (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: 440804 HGNC: 33891 AceView: LOC440804 Ensembl:ENSG00000196934 euGenes: HUgn440804
    ECgene: RIMBP3B H-InvDB: RIMBP3B

    (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 RIMBP3B 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 RIMBP3B gene:
    Search GeneIP for patents involving RIMBP3B

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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