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

UPF3B Gene

protein-coding   GIFtS: 57
GCID: GC0XM118967

UPF3 Regulator Of Nonsense Transcripts Homolog B (Yeast)

  See related diseases
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
UPF3 Regulator Of Nonsense Transcripts Homolog B (Yeast)1 2     hUpf3p-X2 3
RENT3B2 3 5     MRXS142 5
Nonsense MRNA Reducing Factor 3B2 3     HUPF3B2
Up-Frameshift Suppressor 3 Homolog B2 3     Regulator Of Nonsense Transcripts 3B2
Up-Frameshift Suppressor 3 Homolog On Chromosome X2 3     hUpf3B3
UPF3X2 3     

External Ids:    HGNC: 204391   Entrez Gene: 651092   Ensembl: ENSG000001253517   OMIM: 3002985   UniProtKB: Q9BZI73   

Export aliases for UPF3B gene to outside databases

Previous GC identifers: GC0XM113785 GC0XM115953 GC0XM116943 GC0XM117722 GC0XM118749 GC0XM118852 GC0XM108461


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

Entrez Gene summary for UPF3B Gene:
This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear
export and mRNA surveillance. The encoded protein is one of two functional homologs to yeast Upf3p. mRNA
surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay
(NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs
containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting
as a nucleocytoplasmic shuttling protein. It forms with Y14 a complex that binds specifically 20 nt upstream of
exon-exon junctions. This gene is located on the long arm of chromosome X. Two splice variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for UPF3B Gene: 
UPF3B (UPF3 regulator of nonsense transcripts homolog B (yeast)) is a protein-coding gene. Diseases associated with UPF3B include renal dysplasia, and mental retardation, x-linked, and among its related super-pathways are Post-Elongation Processing of Intron-Containing pre-mRNA and mRNA Processing. GO annotations related to this gene include nucleocytoplasmic transporter activity and nucleotide binding. An important paralog of this gene is UPF3A.

UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7
Function: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with
the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2
at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance
complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In
cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of
exon-exon junctions. In vitro, stimulates translation; the function is indepenedent of association with UPF2 and
components of the EJC core

Gene Wiki entry for UPF3B Gene


(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_000023.10  NT_011786.16  NC_018934.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the UPF3B gene promoter:
         AhR   TBP   AML1a   C/EBPalpha   YY1   POU2F1   TFIID   POU2F1a   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUPF3B promoter sequence
   Search SABiosciences Chromatin IP Primers for UPF3B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat UPF3B


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

Entrez Gene cytogenetic band: Xq25-q26   Ensembl cytogenetic band:  Xq24   HGNC cytogenetic band: Xq25-q26

UPF3B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UPF3B gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM118967:  view genomic region     (about GC identifiers)

Start:
118,967,985 bp from pter      End:
118,986,991 bp from pter
Size:
19,007 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: REN3B_HUMAN, Q9BZI7 (See protein sequence)
Recommended Name: Regulator of nonsense transcripts 3B  
Size: 483 amino acids; 57762 Da
Subunit: Found in a post-splicing messenger ribonucleoprotein (mRNP) complex. Associates with the exon junction
complex (EJC); the EJC core components EIF4A3 and the MAGOH-RBM8A dimer form a composite binding site for UPF3B
which overlaps with the EJC binding site for WIBG. Interacts with EST1A, UPF2 and RBM8A
Subcellular location: Nucleus. Cytoplasm. Note=Shuttling between the nucleus and the cytoplasm
2 PDB 3D structures from and Proteopedia for UPF3B:
1UW4 (3D)        2XB2 (3D)    
Secondary accessions: D3DWI3 D3DWI4 Q0VAK8 Q9H1J0
Alternative splicing: 2 isoforms:  Q9BZI7-1   Q9BZI7-2   

Explore the universe of human proteins at neXtProt for UPF3B: NX_Q9BZI7

Explore proteomics data for UPF3B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BZI7

  • UPF3B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    UPF3B Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_075386.1  NP_542199.1  

    ENSEMBL proteins: 
     ENSP00000276201   ENSP00000245418  
    Reactome Protein details: Q9BZI7
    Human Recombinant Protein Products for UPF3B: 
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    Cloud-Clone Corp. Proteins for UPF3B 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11163187
    GO:0005654nucleoplasm TAS--
    GO:0005737cytoplasm NAS11163187
    GO:0005829cytosol TAS--
    GO:0035145colocalizes with exon-exon junction complex IDA11546873

    UPF3B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR005120 Nonsense_mediated_decay_UPF3
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry Q9BZI7

    ProtoNet protein and cluster: Q9BZI7

    UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7
    Similarity: Belongs to the RENT3 family


    UPF3B 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: REN3B_HUMAN, Q9BZI7
    Function: Involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons by associating with
    the nuclear exon junction complex (EJC) and serving as link between the EJC core and NMD machinery. Recruits UPF2
    at the cytoplasmic side of the nuclear envelope and the subsequent formation of an UPF1-UPF2-UPF3 surveillance
    complex (including UPF1 bound to release factors at the stalled ribosome) is believed to activate NMD. In
    cooperation with UPF2 stimulates both ATPase and RNA helicase activities of UPF1. Binds spliced mRNA upstream of
    exon-exon junctions. In vitro, stimulates translation; the function is indepenedent of association with UPF2 and
    components of the EJC core

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003729mRNA binding IDA11546873
    GO:0005487nucleocytoplasmic transporter activity NAS11163187
    GO:0005515protein binding IPI11163187
         
    UPF3B for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for UPF3B:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for UPF3B 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for UPF3B 
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    SwitchGear 3'UTR luciferase reporter plasmidUPF3B 3' UTR sequence
    Inhib. RNA
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    (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

    SuperPaths for UPF3B About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.79
    Post-Elongation Processing of the Transcript0.79
    Post-Elongation Processing of Intron-Containing pre-mRNA0.79
    mRNA 3'-end processing0.79
    Cleavage of Growing Transcript in the Termination Region 0.79
    2mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA Splicing - Major Pathway0.82
    mRNA Processing0.85
    mRNA Splicing0.82
    3Metabolism of mRNA
    Metabolism of mRNA0.92
    Metabolism of RNA0.92
    4Transport of Mature Transcript to Cytoplasm
    Transport of Mature Transcript to Cytoplasm0.85
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.85
    5Viral mRNA Translation
    Nonsense-Mediated Decay0.84
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/18        Reactome Pathways for UPF3B (see all 18)
        Transport of Mature mRNA derived from an Intron-Containing Transcript
    Nonsense-Mediated Decay
    Transport of Mature Transcript to Cytoplasm
    mRNA Splicing
    RNA Polymerase II Transcription


    2         Kegg Pathways  (Kegg details for UPF3B):
        RNA transport
    mRNA surveillance pathway


    UPF3B for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for UPF3B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/204 Interacting proteins for UPF3B (Q9BZI71, 2, 3 ENSP000002762014) via UniProtKB, MINT, STRING, and/or I2D (see all 204)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF2Q9HAU51, 2, 3, ENSP000003487084EBI-372780,EBI-372073 MINT-51076 I2D: score=6 STRING: ENSP00000348708
    RBM8AQ9Y5S91, 2, 3, ENSP000003330014EBI-372780,EBI-447231 MINT-18282 I2D: score=3 STRING: ENSP00000333001
    UPF1Q929001, 3, ENSP000002628034EBI-372780,EBI-373471 I2D: score=2 STRING: ENSP00000262803
    EIF4A3P389191, 3, ENSP000002693494EBI-372780,EBI-299104 I2D: score=2 STRING: ENSP00000269349
    MCRS1Q96EZ83, ENSP000003496404I2D: score=4 STRING: ENSP00000349640
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--
    GO:0006406mRNA export from nucleus TAS--

    UPF3B 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 UPF3B (REN3B)

    Search CenterWatch for drugs/clinical trials and news about UPF3B / REN3B

    (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 UPF3B gene (2 alternative transcripts): 
    NM_023010.3  NM_080632.2  

    Unigene Cluster for UPF3B:

    UPF3 regulator of nonsense transcripts homolog B (yeast)
    Hs.103832  [show with all ESTs]
    Unigene Representative Sequence: NM_080632
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000276201(uc004erz.2) ENST00000345865(uc004esa.2) ENST00000478840

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    Additional mRNA sequence: 

    AF318576.1 AK093728.1 AY013251.1 BC008494.1 BC121017.1 BC121018.1 

    16 DOTS entries:

    DT.406540  DT.99942600  DT.91843562  DT.100805160  DT.75133378  DT.121304898  DT.92426348  DT.121304858 
    DT.121304911  DT.75147333  DT.92011871  DT.100711973  DT.121304901  DT.40268520  DT.91679866  DT.95370812 

    24/119 AceView cDNA sequences (see all 119):

    AY013251 BF817445 CB305573 BE550568 BE350544 NM_023010 BM462872 AI559512 
    BM988590 AI684294 CA429485 BE791978 AW028133 BG696578 CB158716 AF318576 
    BQ439538 AI811558 CR591923 CB157993 AK093728 BX112720 AW511806 NM_080632 

    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

    UPF3B expression in normal human tissues (normalized intensities)      UPF3B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATCTGAGTGC
    UPF3B Expression
    About this image


    UPF3B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/20 selected tissues (see all 20) fully expand
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Leydig Cells Testis Interstitium
             testis ; cells in seminiferus ducts   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             lung ; macrophages   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 2 entries
             rectum ; glandular cells   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebellum

    See UPF3B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for UPF3B

    SOURCE GeneReport for Unigene cluster: Hs.103832

    UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7
    Tissue specificity: Expressed in testis, uterus, prostate, heart, muscle, brain, spinal cord and placenta

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    In Situ
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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 eukaryotes.

    Orthologs for UPF3B gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Upf3b1 , 5 UPF3 regulator of nonsense transcripts homolog B (yeast)1, 5 87.87(n)1
    87.02(a)1
      X (21.51 cM)5
    681341  NM_026573.21  NP_080849.11 
     370916785 
    chicken
    (Gallus gallus)
    Aves UPF3B1 UPF3 regulator of nonsense transcripts homolog B (yeast) 72.07(n)
    71.49(a)
      100858231  XM_003641122.1  XP_003641170.1 
    lizard
    (Anolis carolinensis)
    Reptilia UPF3B6
    Uncharacterized protein
    67(a)
    1 ↔ 1
    GL343950.1(90705-99532)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.177082 Transcribed sequence with weak similarity to protein more 79.4(n)    AL855547.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc663902 similar to UPF3 regulator of nonsense transcripts homolog more 72.59(n)   393929  BC055632.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Upf31 CG11184-PB 45.59(n)
    34.39(a)
      37792  NM_166629.2  NP_726375.1 
    worm
    (Caenorhabditis elegans)
    Secernentea smg-41 Protein SMG-4 44.81(n)
    31.14(a)
      179371  NM_171514.3  NP_741600.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UPF31 Smg-4/UPF3-like protein 43.6(n)
    29.97(a)
      840295  NM_001123934.1  NP_001117406.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g04401001 hypothetical protein 42.12(n)
    28.88(a)
      4335928  NM_001059408.1  NP_001052873.1 


    ENSEMBL Gene Tree for UPF3B (if available)
    TreeFam Gene Tree for UPF3B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for UPF3B gene
    UPF3A2  
    1 SIMAP similar gene for UPF3B using alignment to 3 protein entries:     REN3B_HUMAN (see all proteins):
    UPF3A

    UPF3B for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for UPF3B
    PGOHUM00000241517


    (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

    10/353 SNPs in UPF3B are shown (see all 353)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0376664
    Mental retardation, X-linked, syndromic, 14 (MRXS14)4--see VAR_0376662 Y D mis40--------
    rs1224681811,2
    Cpathogenic1118965217(-) GAGATA/C/TGAATA 4 R * stg10--------
    rs1492584261,2
    --118960981(+) GGGGTC/TTTGCT 2 -- ds50010--------
    rs1839555831,2
    --118961078(+) CTCCCA/GAGTAG 2 -- ds50010--------
    rs120125751,2
    C,F,A,H--118961096(+) TACAGG/ATGCCC 2 -- ds50016Minor allele frequency- A:0.42NA WA CSA 12
    rs1389562071,2
    --118961232(+) CAGGCA/GTGAGC 2 -- ds50010--------
    rs1889510201,2
    --118961406(+) TCAGAC/TGTCAA 2 -- ds50010--------
    rs1905986471,2
    --118961418(+) AATTTA/CATTTC 2 -- ds50010--------
    rs24282061,2
    C,A--118961552(+) AGACAC/TTGGTG 2 -- ut31 ese30--------
    rs1463883391,2
    --118961599(+) TGAGAC/TCTAAG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for UPF3B (118967985 - 118986991 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for UPF3B:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv2469e1CNV Complex17122850
    dgv2468e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): UPF3B

    Locus Specific Mutation Databases (LSDB): UPF3B
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing UPF3B
    DNA2.0 Custom Variant and Variant Library Synthesis for UPF3B

    (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: 300298   
    OMIM disorders: 300676  
    UniProtKB/Swiss-Prot: REN3B_HUMAN, Q9BZI7
  • Mental retardation, X-linked, syndromic, 14 (MRXS14) [MIM:300676]: A disorder characterized by
    significantly below average general intellectual functioning associated with impairments in adaptative behavior
    and manifested during the developmental period. MRXS14 patients manifest mental retardation associated with other
    variable signs such as autistic features, slender build, poor musculature, long, thin face, high-arched palate,
    high nasal bridge, and pectus deformities. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 5 diseases for UPF3B:    About MalaCards
    renal dysplasia    mental retardation, x-linked    mental retardation    neuronitis
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for UPF3B:
    Intellectual disability

    UPF3B for disorders           About GeneDecksing


    Export disorders for UPF3B 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 UPF3B gene, integrated from 9 sources (see all 57):
    (articles sorted by number of sources associating them with UPF3B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human orthologues to Saccharomyces cerevisiae Upf2 protein and Upf3 protein (Caenorhabditis elegans SMG-4). (PubMed id 11113196)1, 2, 3, 9 Serin G....Maquat L.E. (2001)
    2. Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon. (PubMed id 11163187)1, 2, 3, 9 Lykke-Andersen J....Steitz J.A. (2000)
    3. Functions of hUpf3a and hUpf3b in nonsense-mediated mRNA decay and translation. (PubMed id 16601204)1, 2, 9 Kunz J.B....Gehring N.H. (2006)
    4. Y14 and hUpf3b form an NMD-activating complex. (PubMed id 12718880)1, 2, 9 Gehring N.H.... Kulozik A.E. (2003)
    5. NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity. (PubMed id 18066079)1, 2, 9 Chamieh H....Le Hir H. (2008)
    6. The structural basis for the interaction between nonsense-mediated mRNA decay factors UPF2 and UPF3. (PubMed id 15004547)1, 2, 9 Kadlec J.... Cusack S. (2004)
    7. Characterization of human Smg5/7a: a protein with similarities to Caenorhabditis elegans SMG5 and SMG7 that functions in the dephosphorylation of Upf1. (PubMed id 12554878)1, 2, 9 Chiu S.-Y.... Maquat L.E. (2003)
    8. Insights into the recruitment of the NMD machinery fr om the crystal structure of a core EJC-UPF3b complex. (PubMed id 20479275)1, 2 Buchwald G....Conti E. (2010)
    9. Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation. (PubMed id 17704778)1, 2 Tarpey P.S.... Gecz J. (2007)
    10. Exon-junction complex components specify distinct routes of nonsense- mediated mRNA decay with differential cofactor requirements. (PubMed id 16209946)1, 2 Gehring N.H.... Kulozik A.E. (2005)

    (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: 65109 HGNC: 20439 AceView: UPF3B Ensembl:ENSG00000125351 euGenes: HUgn65109
    ECgene: UPF3B Kegg: 65109 H-InvDB: UPF3B

    (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 UPF3B 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 UPF3B gene:
    Search GeneIP for patents involving UPF3B

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



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