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

RPS19 Gene

protein-coding   GIFtS: 67
GCID: GC19P042363

Ribosomal Protein S19

Microbiology & Infectious Diseases Congress
  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
Ribosomal Protein S191 2
DBA2 5
DBA12 5
Diamond-Blackfan Anemia1
40S Ribosomal Protein S192
S192

External Ids:    HGNC: 104021   Entrez Gene: 62232   Ensembl: ENSG000001053727   OMIM: 6034745   UniProtKB: P390193   

Export aliases for RPS19 gene to outside databases

Previous GC identifers: GC19P043003 GC19P042755 GC19P047040 GC19P047055 GC19P038795


(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 RPS19 Gene:
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit.
Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This
gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S19E family
of ribosomal proteins. It is located in the cytoplasm. Mutations in this gene cause Diamond-Blackfan anemia
(DBA), a constitutional erythroblastopenia characterized by absent or decreased erythroid precursors, in a subset
of patients. This suggests a possible extra-ribosomal function for this gene in erythropoietic differentiation
and proliferation, in addition to its ribosomal function. Higher expression levels of this gene in some primary
colon carcinomas compared to matched normal colon tissues has been observed. As is typical for genes encoding
ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. (provided
by RefSeq, Jul 2008)

GeneCards Summary for RPS19 Gene: 
RPS19 (ribosomal protein S19) is a protein-coding gene. Diseases associated with RPS19 include diamond-blackfan anemia, and transient erythroblastopenia of childhood, and among its related super-pathways are Eukaryotic Translation Initiation and Formation of the ternary complex, and subsequently, the 43S complex. GO annotations related to this gene include fibroblast growth factor binding and structural constituent of ribosome.

UniProtKB/Swiss-Prot: RS19_HUMAN, P39019
Function: Required for pre-rRNA processing and maturation of 40S ribosomal subunits

Gene Wiki entry for RPS19 (Ribosomal protein S19) 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RPS19 gene promoter:
         HEN1   GR   p53   CUTL1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for RPS19

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPS19


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

Entrez Gene cytogenetic band: 19q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.2

RPS19 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPS19 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P042363:  view genomic region     (about GC identifiers)

Start:
42,363,988 bp from pter      End:
42,376,994 bp from pter
Size:
13,007 bases      Orientation:
plus 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: RS19_HUMAN, P39019 (See protein sequence)
Recommended Name: 40S ribosomal protein S19  
Size: 145 amino acids; 16060 Da
Subunit: Interacts with RPS19BP1 (By similarity)
Subcellular location: Nucleus. Note=Located more specifically in the nucleoli
1 PDB 3D structure from and Proteopedia for RPS19:
3J3A (3D)    

Explore the universe of human proteins at neXtProt for RPS19: NX_P39019

Explore proteomics data for RPS19 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P39019

  • RPS19 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RPS19 Protein Expression
    REFSEQ proteins: NP_001013.1  
    ENSEMBL proteins: 
     ENSP00000470972   ENSP00000471621   ENSP00000469228   ENSP00000221975   ENSP00000470004  
     ENSP00000469798   ENSP00000472660  
    Reactome Protein details: P39019
    Human Recombinant Protein Products for RPS19: 
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for RPS19 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005730nucleolus IDA12586610
    GO:0005737cytoplasm IDA17517689
    GO:0005829cytosol TAS--
    GO:0005840ribosome IDA17517689

    RPS19 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
    HGNC Gene Families: 
    RPS: S ribosomal proteins

    2 InterPro protein domains:
     IPR018277 Ribosomal_S19e_CS
     IPR001266 Ribosomal_S19e

    Graphical View of Domain Structure for InterPro Entry P39019

    ProtoNet protein and cluster: P39019

    1 Blocks protein domain: IPB001266 Ribosomal protein S19e

    UniProtKB/Swiss-Prot: RS19_HUMAN, P39019
    Similarity: Belongs to the ribosomal protein S19e family


    RPS19 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: RS19_HUMAN, P39019
    Function: Required for pre-rRNA processing and maturation of 40S ribosomal subunits

         Genatlas biochemistry entry for RPS19:
    40S ribosomal protein S19

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003735structural constituent of ribosome IDA15883184
    GO:0005515protein binding IPI16266891
    GO:0017134fibroblast growth factor binding IPI11716516
    GO:0019901protein kinase binding IPI16266891
    GO:0042803protein homodimerization activity IDA11226885
         
    RPS19 for ontologies           About GeneDecksing


    Phenotypes:
         8 GenomeRNAi human phenotypes for RPS19:
     Decreased Hepatitis C virus re  Decreased cell number, increas  Decreased homologous recombina  Decreased viability 
     Decreased viability of wild-ty  Increased gamma-H2AX phosphory  S arrest  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Rps19):
     hematopoietic system  integument  limbs/digits/tail  mortality/aging  pigmentation 

    RPS19 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Rps19tm1Dahl for RPS19

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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 RPS19 About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Viral mRNA Translation
    Influenza Life Cycle0.95
    3' -UTR-mediated translational regulation0.93
    Influenza Infection0.95
    L13a-mediated translational silencing of Ceruloplasmin expression0.93
    Nonsense Mediated Decay Independent of the Exon Junction Complex0.94
    Formation of a pool of free 40S subunits0.90
    Eukaryotic Translation Termination0.94
    Nonsense-Mediated Decay0.84
    2Translation initiation complex formation
    Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S0.95
    Formation of the ternary complex, and subsequently, the 43S complex0.87
    Ribosomal scanning and start codon recognition0.95
    Translation initiation complex formation0.87
    3Metabolism of mRNA
    Metabolism of mRNA0.92
    Metabolism of RNA0.92
    4Generic Transcription Pathway
    Gene Expression0.47
    5Asparagine N-linked glycosylation
    Metabolism of proteins0.35

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RPS19
        CFTR translational fidelity (class I mutations)

    1 BioSystems Pathway for RPS19
        Cytoplasmic Ribosomal Proteins

    5/27        Reactome Pathways for RPS19 (see all 27)
        Formation of the ternary complex, and subsequently, the 43S complex
    Nonsense Mediated Decay Independent of the Exon Junction Complex
    Nonsense-Mediated Decay
    Translation
    SRP-dependent cotranslational protein targeting to membrane


    1         Kegg Pathway  (Kegg details for RPS19):
        Ribosome


    RPS19 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RPS19

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

    5/868 Interacting proteins for RPS19 (P390191, 2, 3 ENSP000002219754) via UniProtKB, MINT, STRING, and/or I2D (see all 868)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RPS8P622412, 3, ENSP000003798884MINT-8044095 MINT-8044084 I2D: score=1 STRING: ENSP00000379888
    RPL31P628992, 3, ENSP000003867174MINT-7945693 I2D: score=4 STRING: ENSP00000386717
    DDX5P178442, 3MINT-7945693 MINT-8395092 I2D: score=1 
    RPL4P365782, 3, ENSP000003114304MINT-7945693 I2D: score=1 STRING: ENSP00000311430
    RPS13P622772, 3, ENSP000002281404MINT-8044095 I2D: score=1 STRING: ENSP00000228140
    About this table

    Gene Ontology (GO): 5/26 biological process terms (GO ID links to tree view) (see all 26):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000028ribosomal small subunit assembly IMP17053056
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0000462maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IMP16990592
    GO:0002548monocyte chemotaxis IDA11226885
    GO:0006364rRNA processing IMP18697920

    RPS19 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

    RPS19 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RPS19 (RS19)

    2 Novoseek inferred chemical compound relationships for RPS19 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anaphylatoxin 47 1 14550538 (1)
    rrna 33.4 8 17376718 (2), 18697920 (1), 17053056 (1), 8188044 (1)

    Search CenterWatch for drugs/clinical trials and news about RPS19 / RS19

    (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 RPS19 gene: 
    NM_001022.3  

    Unigene Cluster for RPS19:

    Ribosomal protein S19
    Hs.438429  [show with all ESTs]
    Unigene Representative Sequence: BQ066037
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000598742 ENST00000598466 ENST00000601492 ENST00000600467 ENST00000221975(uc002ort.3)
    ENST00000593863 ENST00000598261 ENST00000598399
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK311786.1 BC000023.2 BC007615.2 BC017386.1 BC018616.1 M81757.1 

    24/67 DOTS entries (see all 67):

    DT.95150873  DT.451466  DT.100701260  DT.100701255  DT.91781136  DT.100651397  DT.422781  DT.121486065 
    DT.92057542  DT.121486123  DT.97863855  DT.121486080  DT.95120271  DT.121486048  DT.121486075  DT.101987507 
    DT.100057430  DT.100701243  DT.100701246  DT.97846754  DT.97863245  DT.100850034  DT.121486129  DT.75173202 

    24/2533 AceView cDNA sequences (see all 2533):

    AW160484 AA307488 CB108515 BM889494 AW163598 CB107247 CR616003 BE878944 
    AA327060 BM889472 AI969966 BM685528 BM925518 AI708208 BU552762 BM696561 
    BG111333 W67658 BM889454 BQ058545 BQ681482 BM874421 BI908700 AI350517 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for RPS19 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8
    SP1:                    -     -                       -     -     -     -                     
    SP2:                    -     -                             -     -     -                     
    SP3:                    -     -     -                 -     -     -     -                     
    SP4:                          -                       -     -     -     -                     
    SP5:                                                  -     -     -     -                     


    ECgene alternative splicing isoforms for RPS19

    (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

    RPS19 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGTTAAT
    RPS19 Expression
    About this image


    See RPS19 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RPS19

    SOURCE GeneReport for Unigene cluster: Hs.438429

    UniProtKB/Swiss-Prot: RS19_HUMAN, P39019
    Tissue specificity: Higher level expression is seen in the colon carcinoma tissue than normal colon tissue

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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 RPS19 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rps191 , 5 ribosomal protein S191, 5 93.33(n)1
    99.31(a)1
      7 (13.41 cM)5
    200851  NM_023133.11  NP_075622.11 
     248843715 
    African clawed frog
    (Xenopus laevis)
    Amphibia rps19-prov2 ribosomal protein S19 81.57(n)    BC056505.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc732112 hypothetical protein MGC73211 79.56(n)   393723  BC059557.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta RpS193
    RpS19b1
    protein biosynthesis structural
    constituent of more3
    Ribosomal protein S19b1
    64(a)
    (best of 2)3
    60.42(n)1
    58.33(a)1
      14F43
    428301  NM_142938.21  NP_651195.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rps-193 Ribosomal protein S19e 53(a)   I(9633072-9634002)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPS19A(YOL121C)4 Protein component of the small (40S) ribosomal subunit, more   --   15(92850-92026) 854028  NP_014520.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G611701 40S ribosomal protein S19-3 59.71(n)
    58.27(a)
      836238  NM_125510.4  NP_200925.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g04245001 hypothetical protein 60.7(n)
    58.21(a)
      4333148  NM_001056932.1  NP_001050397.1 


    ENSEMBL Gene Tree for RPS19 (if available)
    TreeFam Gene Tree for RPS19 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RPS19 gene

    RPS19 for paralogs           About GeneDecksing


    5/7 Pseudogenes.org Pseudogenes for RPS19 (see all 7)
    PGOHUM00000238443 PGOHUM00000247764 PGOHUM00000244854 PGOHUM00000247603 PGOHUM00000235587


    (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

    10/391 SNPs in RPS19 are shown (see all 391)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0461454
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0461452 A P mis40--------
    VAR_0554404
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0554402 A P mis40--------
    VAR_0184424
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0184422 T M mis40--------
    VAR_0184394
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0184392 L P mis40--------
    VAR_0461464
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0461462 L R mis40--------
    VAR_0184374
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0184372 R Q mis40--------
    VAR_0184444
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0184442 R Q mis40--------
    VAR_0554454
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0554452 A T mis40--------
    VAR_0554384
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0554382 F S mis40--------
    VAR_0184434
    Diamond-Blackfan anemia 1 (DBA1)4--see VAR_0184432 A E mis40--------

    HapMap Linkage Disequilibrium report for RPS19 (42363988 - 42376994 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for RPS19:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv520239CNV Loss19592680
    dgv3883n71CNV Loss21882294
    dgv3882n71CNV Loss21882294
    nsv522854CNV Gain19592680


    Human Gene Mutation Database (HGMD): RPS19

    Locus Specific Mutation Databases (LSDB): RPS19
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing RPS19
    DNA2.0 Custom Variant and Variant Library Synthesis for RPS19

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603474   
    OMIM disorders: 105650  
    UniProtKB/Swiss-Prot: RS19_HUMAN, P39019
  • Diamond-Blackfan anemia 1 (DBA1) [MIM:105650]: A form of Diamond-Blackfan anemia, a congenital
    non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is
    characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of developing
    leukemia. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the
    most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/28 diseases for RPS19 (see all 28):    About MalaCards
    diamond-blackfan anemia    transient erythroblastopenia of childhood    rps19-related diamond-blackfan anemia    bowen-conradi syndrome
    pure red-cell aplasia    cartilage-hair hypoplasia    macrocytic anemia    microtia
    disorders of sex development    anemia    pandas    sensorineural hearing loss
    aplastic anemia    cleft palate    short stature    leiomyoma
    osteosarcoma    mental retardation    rheumatoid arthritis    diabetes mellitus

    6 diseases from the University of Copenhagen DISEASES database for RPS19:
    Bone marrow disease     Anemia     Sensorineural hearing loss     Endemic typhus
    Bowen-Conradi syndrome     Arthritis

    RPS19 for disorders           About GeneDecksing

    10/17 Novoseek inferred disease relationships for RPS19 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diamond-blackfan anemia 98.5 87 18768533 (4), 17178250 (3), 16159874 (2), 19587786 (2) (see all 44)
    anemia hypoplastic congenital 93 4 12586610 (1), 17517689 (1), 15523650 (1)
    congenital pure red cell aplasia 91.8 2 16531079 (1)
    anemia macrocytic 83 3 16531079 (1), 20194897 (1)
    anemia hypoplastic 77.3 1 16159874 (1)
    aplasia 75.9 1 17186470 (1)
    anemia 58.7 13 9241274 (2), 18217898 (1), 18386371 (1), 15384984 (1) (see all 10)
    anemia severe 41 2 16531079 (1), 16088923 (1)
    anemia aplastic 30.4 1 16794503 (1)
    congenital malformation 28.8 2 18515656 (1), 19689926 (1)

    GeneTests: RPS19
    GeneReviews: RPS19
    Genetic Association Database (GAD): RPS19
    Human Genome Epidemiology (HuGE) Navigator: RPS19 (9 documents)

    Export disorders for RPS19 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 RPS19 gene, integrated from 9 sources (see all 177):
    (articles sorted by number of sources associating them with RPS19)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A map of 75 human ribosomal protein genes. (PubMed id 9582194)1, 2, 3 Kenmochi N.... Page D.C. (1998)
    2. Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology. (PubMed id 12586610)1, 2, 9 Da Costa L.... Mohandas N. (2003)
    3. Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. (PubMed id 17517689)1, 2, 9 Angelini M.... Loreni F. (2007)
    4. Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. (PubMed id 16990592)1, 2, 9 Flygare J....Ellis S.R. (2007)
    5. Ten novel Diamond-Blackfan anemia mutations and three polymorphisms within the rps19 gene. (PubMed id 12750732)1, 2, 9 Proust A.... Delaunay J. (2003)
    6. Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression. (PubMed id 10590074)1, 2, 9 Willig T.-N.D.... Tchernia G. (1999)
    7. Genetic variants in the noncoding region of RPS19 gen e in Diamond-Blackfan anemia: potential implications for phenotypic heterogenei ty. (PubMed id 20054847)1, 4, 9 CrActien A....Da Costa L. (2010)
    8. The gene encoding ribosomal protein S19 is mutated in Diamond- Blackfan anaemia. (PubMed id 9988267)1, 2, 9 Draptchinskaia N.... Dahl N. (1999)
    9. Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature. (PubMed id 15075082)1, 2, 9 Campagnoli M.F....Dianzan I. (2004)
    10. RPS19 mutations in patients with Diamond-Blackfan anemia. (PubMed id 18412286)1, 2, 9 Campagnoli M.F.... Dianzani I. (2008)

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

      Query String
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      (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: 6223 HGNC: 10402 AceView: RPS19 Ensembl:ENSG00000105372 euGenes: HUgn6223
    ECgene: RPS19 Kegg: 6223 H-InvDB: RPS19

    (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 RPS19 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RPS19 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPS19
    Diamond-Blackfan Anemia mutation databasehttp://www.dbagenes.unito.it/home.php?select_db=RPS19

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RPS19 gene:
    Search GeneIP for patents involving RPS19

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



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