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RPS24 Gene

protein-coding   GIFtS: 67
GCID: GC10P079793

Ribosomal Protein S24

  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)
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Aliases
Ribosomal Protein S241 2
DBA32 5
40S Ribosomal Protein S242
S242

External Ids:    HGNC: 104111   Entrez Gene: 62292   Ensembl: ENSG000001383267   OMIM: 6024125   UniProtKB: P628473   

Export aliases for RPS24 gene to outside databases

Previous GC identifers: GC10P078750 GC10P079003 GC10P079686 GC10P079138 GC10P079463 GC10P073788


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for RPS24 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 S24E family
of ribosomal proteins. It is located in the cytoplasm. Multiple transcript variants encoding different isoforms
have been found for this gene. As is typical for genes encoding ribosomal proteins, there are multiple processed
pseudogenes of this gene dispersed through the genome. Mutations in this gene result in Diamond-Blackfan anemia.
(provided by RefSeq, Nov 2008)

GeneCards Summary for RPS24 Gene:
RPS24 (ribosomal protein S24) is a protein-coding gene. Diseases associated with RPS24 include rps24-related diamond-blackfan anemia, and diamond-blackfan anemia 3. GO annotations related to this gene include translation initiation factor binding and nucleotide binding.

UniProtKB/Swiss-Prot: RS24_HUMAN, P62847
Function: Required for processing of pre-rRNA and maturation of 40S ribosomal subunits

Gene Wiki entry for RPS24 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000010.11  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RPS24 gene promoter:
         C/EBPbeta   AML1a   Egr-1   FOXD1   CUTL1   Ik-3   POU3F2   RORalpha1   FOXC1   Nkx6-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRPS24 promoter sequence
   Search Chromatin IP Primers for RPS24

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPS24


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

Entrez Gene cytogenetic band: 10q22   Ensembl cytogenetic band:  10q22.3   HGNC cytogenetic band: 10q22

RPS24 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPS24 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P079793:  view genomic region     (about GC identifiers)

Start:
79,793,518 bp from pter      End:
79,816,571 bp from pter
Size:
23,054 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RS24_HUMAN, P62847 (See protein sequence)
Recommended Name: 40S ribosomal protein S24  
Size: 133 amino acids; 15423 Da
1 PDB 3D structure from and Proteopedia for RPS24:
3J3A (3D)    
Secondary accessions: E7EPK6 P16632 Q5T0P7 Q5T0P8 Q7Z3D1
Alternative splicing: 4 isoforms:  P62847-1, P16632-1   P62847-2, P16632-2   P62847-3   P62847-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RPS24: NX_P62847

Explore proteomics data for RPS24 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys21, Lys32, Lys37, Lys49, Lys68, Lys83
  • Modification sites at PhosphoSitePlus

  • See RPS24 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001017.1  NP_001135754.1  NP_001135755.1  NP_001135756.1  NP_001135757.1  NP_148982.1  

    ENSEMBL proteins: 
     ENSP00000361435   ENSP00000354074   ENSP00000414321   ENSP00000415549  
    Reactome Protein details: P62847

    RPS24 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RPS: S ribosomal proteins

    4 InterPro protein domains:
     IPR012678 Ribosomal_L23/L15e_core_dom
     IPR001976 Ribosomal_S24e
     IPR018098 Ribosomal_S24e_CS
     IPR012677 Nucleotide-bd_a/b_plait

    Graphical View of Domain Structure for InterPro Entry P62847

    ProtoNet protein and cluster: P62847

    UniProtKB/Swiss-Prot: RS24_HUMAN, P62847
    Similarity: Belongs to the ribosomal protein S24e family


    RPS24 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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RS24_HUMAN, P62847
    Function: Required for processing of pre-rRNA and maturation of 40S ribosomal subunits

         Genatlas biochemistry entry for RPS24:
    40S ribosomal protein S24,small subunit,5kDa

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003735structural constituent of ribosome NAS18412286
    GO:0031369translation initiation factor binding ISS--
    GO:0044822poly(A) RNA binding IDA--
         
    RPS24 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for RPS24:
     Decreased Hepatitis C virus re  Decreased influenza A/WSN/33 r  Increased G2M DNA content  Increased cell number in S 
     Nucleolar pre-40S maturation d  S arrest 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RPS24
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    miRNA
    Products:
        
    miRTarBase miRNAs that target RPS24:
    hsa-mir-92a-3p (MIRT048929), hsa-mir-27b-3p (MIRT046221), hsa-mir-221-3p (MIRT046852), hsa-mir-128-3p (MIRT045854), hsa-mir-27a-3p (MIRT050035), hsa-let-7a-5p (MIRT052586), hsa-mir-26a-5p (MIRT050119), hsa-let-7b-5p (MIRT052260), hsa-mir-16-5p (MIRT051083), hsa-mir-484 (MIRT041663), hsa-let-7c-5p (MIRT051855)

    Block miRNA regulation of human, mouse, rat RPS24 using miScript Target Protectors
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    hsa-miR-4305 hsa-miR-548c-3p hsa-miR-766
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RPS24
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RPS24

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS24


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    nucleus3
    mitochondrion2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730nucleolus IBA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol TAS--

    RPS24 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for RPS24 About   (see all 6)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1CFTR translational fidelity class I mutations
    CFTR translational fidelity class I mutations 0.60
    Ribosome0.54
    Cytoplasmic Ribosomal Proteins0.60
    2Influenza Viral RNA Transcription and Replication
    Viral mRNA Translation0.94
    Eukaryotic Translation Initiation0.89
    Peptide chain elongation0.94
    Cap-dependent Translation Initiation0.89
    Nonsense Mediated Decay Independent of the Exon Junction Complex0.94
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    Formation of a pool of free 40S subunits0.94
    Nonsense-Mediated Decay0.89
    3Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
    Translation initiation complex formation0.91
    Ribosomal scanning and start codon recognition0.91
    Formation of the ternary complex, and subsequently, the 43S complex0.91
    Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S0.90
    4Gene Expression
    Gene Expression0.40
    5Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Metabolism of proteins0.30

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for RPS24
        CFTR translational fidelity (class I mutations)

    1 BioSystems Pathway for RPS24
        Cytoplasmic Ribosomal Proteins

    Selected Reactome Pathways for RPS24 (see all 12)
        Peptide chain elongation
    Formation of the ternary complex, and subsequently, the 43S complex
    Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
    Viral mRNA Translation
    GTP hydrolysis and joining of the 60S ribosomal subunit


    1 Kegg Pathway  (Kegg details for RPS24):
        Ribosome


    RPS24 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RPS24
    Interactions:

        Search GeneGlobe Interaction Network for RPS24

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

    Selected Interacting proteins for RPS24 (P628472, 3 ENSP000004143214) via UniProtKB, MINT, STRING, and/or I2D (see all 473)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K14Q995582, 3MINT-48875 I2D: score=2 
    NFKB2Q006532, 3MINT-48771 I2D: score=2 
    ENSG00000096150P622693, ENSP000002113724I2D: score=3 STRING: ENSP00000211372
    ENSG00000223367P622693, ENSP000004125834I2D: score=3 STRING: ENSP00000412583
    ENSG00000226225P622693, ENSP000004031754I2D: score=3 STRING: ENSP00000403175
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    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) IBA--
    GO:0006364rRNA processing IMP18230666
    GO:0006412translation TAS--
    GO:0006413translational initiation TAS--

    RPS24 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for RPS24 (RS24)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RPS24 gene (6 alternative transcripts): 
    NM_001026.4  NM_001142282.1  NM_001142283.1  NM_001142284.1  NM_001142285.1  NM_033022.3  

    Unigene Cluster for RPS24:

    Ribosomal protein S24
    Hs.280130  [show with all ESTs]
    Unigene Representative Sequence: NM_001142285
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485708 ENST00000478655 ENST00000372360 ENST00000464716 ENST00000476545
    ENST00000360830 ENST00000466129 ENST00000475468 ENST00000482069 ENST00000465692
    ENST00000480662 ENST00000440692(uc001jzs.3) ENST00000435275(uc010qlo.2 uc001jzp.3 uc001jzq.3)

    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate RPS24:
    hsa-miR-4305 hsa-miR-548c-3p hsa-miR-766
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat RPS24

    Additional mRNA sequence: 

    AF147330.1 AK094613.1 AK311776.1 AK311910.1 BC000523.2 BC003149.1 BC062293.1 BC071926.1 
    BX537975.1 M31520.1 

    Selected DOTS entries (see all 99):

    DT.95193066  DT.100697535  DT.97856986  DT.100697069  DT.95109409  DT.100697545  DT.100697555  DT.100697534 
    DT.91714925  DT.120918612  DT.95207427  DT.101987192  DT.95249953  DT.100697543  DT.121236718  DT.100031989 
    DT.91773577  DT.95250035  DT.95350593  DT.100799006  DT.121236773  DT.100850480  DT.91773586  DT.120752814 

    Selected AceView cDNA sequences (see all 1967):

    AA486213 BI766815 CB140322 AA968882 T51380 AA147525 BQ441883 BM667417 
    BG422981 T62929 AJ710832 AA307329 CB122751 AW732690 BG273122 BU734599 
    AI016699 BQ688455 AA187308 BU537960 F18711 AJ714582 AW089394 AA485640 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RPS24 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCTGTATGA
    RPS24 Expression
    About this image


    RPS24 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 20) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Colon (Gastrointestinal Tract)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    RPS24 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RPS24 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.280130

    UniProtKB/Swiss-Prot: RS24_HUMAN, P62847
    Tissue specificity: Mature tissues, such as adult brain, skeletal muscle, heart, and kidney, express low levels,
    whereas tissues and organs with significant populations of proliferating cells, such as fetal brain, placenta,
    bone marrow, and various glandular organs, contain significantly higher levels

        Custom PCR Arrays for RPS24
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    QuantiFast Probe-based Assays in human, mouse, rat RPS24
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS24

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RPS24 gene from Selected species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rps241 , 5 ribosomal protein S241, 5 88.89(n)1
    99.24(a)1
      14 (14.42 cM)5
    200881  NM_207634.11  NP_997517.11 
     244906815 
    chicken
    (Gallus gallus)
    Aves RPS241 ribosomal protein S24 84.85(n)
    99.24(a)
      423726  NM_001277342.1  NP_001264271.1 
    lizard
    (Anolis carolinensis)
    Reptilia RPS246
    ribosomal protein S24
    80(a)
    1 ↔ 1
    GL343196.1(5402355-5405415)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC040972.12   -- 80.22(n)    BC040972.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BI475122.12   -- 78.23(n)    BI475122.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG37513
    RpS241
    protein biosynthesis structural
    constituent of more3
    Ribosomal protein S241
    77(a)3
    68.77(n)1
    77.95(a)1
      58F33
    375891  NM_137849.31  NP_611693.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rps-241 , 3 ribosomal protein3
    rps-241
    62(a)3
    61.79(n)1
    66.92(a)1
      IV(385722-387338)3
    1768581  NM_067514.41  NP_499915.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes RPS24A(YER074W)4
    RPS24A1
    Protein component of the small (40S) ribosomal subunit; more4
    RPS24A1
    63.93(n)1
    61.48(a)1
      5(306323-307196)4
    8568051, 4  NP_010997.31  NP_010997.14 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G049201 AT3G04920 67.45(n)
    67.19(a)
      819652  NM_111364.2  NP_187143.1 
    rice
    (Oryza sativa)
    Liliopsida AK063794.12   -- 69.75(n)    AK063794.1 


    ENSEMBL Gene Tree for RPS24 (if available)
    TreeFam Gene Tree for RPS24 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for RPS24 gene

    RPS24 for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for RPS24 (see all 37)
    PGOHUM00000256551 PGOHUM00000238649 PGOHUM00000242558 PGOHUM00000242633 PGOHUM00000242776


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RPS24 (see all 681)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048941891,2
    Cpathogenic180168973(+) CCAACC/TGACTA 12 R * stg10--------
    rs1048941881,2
    Cpathogenic180170809(+) GAAAGC/TAACGA 12 Q * stg10--------
    rs1416301951,2
    C--79791529(+) GTAACA/CGGCAC 6 -- us2k10--------
    rs1133306611,2
    F--79791565(+) TCTGCG/CTCAGC 6 -- us2k12Minor allele frequency- C:0.50CSA 4
    rs1925198561,2
    --79791597(+) AGGTGC/TGCACC 6 -- us2k10--------
    rs1856610491,2
    --79791602(+) CGCACC/GACCAT 6 -- us2k10--------
    rs2012913471,2
    C--79791696(+) GCCTG-/CCTT  
            
    CCTCG
    6 -- us2k10--------
    rs1508937261,2
    C--79791751(+) GCCGG-/CTGA  
            
    CTATT
    6 -- us2k10--------
    rs1880414261,2
    --79791845(+) TGACCA/CGAGAT 6 -- us2k10--------
    rs127720431,2
    C,F--79791908(+) aaaaaG/Aaaaaa 6 -- us2k1 trp35Minor allele frequency- A:0.20NA WA 10

    HapMap Linkage Disequilibrium report for RPS24 (79793518 - 79816571 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for RPS24:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2676466CNV Deletion23128226
    nsv895736CNV Gain21882294

    Human Gene Mutation Database (HGMD): RPS24
    Locus Specific Mutation Databases (LSDB): RPS24

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RPS24
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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.)
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    OMIM gene information: 602412   
    OMIM disorders: 610629  
    UniProtKB/Swiss-Prot: RS24_HUMAN, P62847
  • Diamond-Blackfan anemia 3 (DBA3) [MIM:610629]: 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

  • 19 diseases for RPS24:    
    About MalaCards
    rps24-related diamond-blackfan anemia    diamond-blackfan anemia 3    diamond-blackfan anemia 1    diamond-blackfan anemia
    macrocytic anemia    hepatitis e    pure red-cell aplasia    aplastic anemia
    cleft palate    short stature    influenza    tonsillitis
    melanoma    hepatitis    hiv-1    multiple myeloma
    breast cancer    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for RPS24:
    Aplastic anemia

    RPS24 for disorders           About GeneDecksing

    GeneTests: RPS24
    GeneReviews: RPS24
    Genetic Association Database (GAD): RPS24
    Human Genome Epidemiology (HuGE) Navigator: RPS24 (2 documents)

    Export disorders for RPS24 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)
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    PubMed articles for RPS24 gene, integrated from 10 sources (see all 70):
    (articles sorted by number of sources associating them with RPS24)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene encoding human ribosomal protein S24 and tissue-specific expression of differentially spliced mRNAs. (PubMed id 8647458)1, 2, 9 Xu W.-B. and Roufa D.J. (Gene 1996)
    2. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. (PubMed id 17186470)1, 2, 9 Gazda H.T.... Sieff C.A. (Am. J. Hum. Genet. 2006)
    3. A cDNA encoding human ribosomal protein S24. (PubMed id 2210388)1, 2, 9 Brown S.J.... Roufa D.J. (Gene 1990)
    4. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PubMed id 20378560)1, 4 Konno Y....Ito E. (Haematologica 2010)
    5. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. (PubMed id 19773262)1, 4 Quarello P....Ramenghi U. (Haematologica 2010)
    6. Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder. (PubMed id 18230666)1, 2 Choesmel V.... Gleizes P.E. (Hum. Mol. Genet. 2008)
    7. 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. (Genome Res. 2004)
    8. A map of 75 human ribosomal protein genes. (PubMed id 9582194)1, 3 Kenmochi N.... Page D.C. (Genome Res. 1998)
    9. Mapping of the human ribosomal small subunit protein gene RPS24 to the chromosome 10q22-q23 boundary. (PubMed id 9027498)1, 3 Jones A.M....Hewitt J.E. (Genomics 1997)
    10. Characterization of the human small-ribosomal-subunit proteins by N- terminal and internal sequencing, and mass spectrometry. (PubMed id 8706699)1, 2 Vladimirov S.N.... Otto A. (Eur. J. Biochem. 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 6229 HGNC: 10411 AceView: RPS24 Ensembl:ENSG00000138326 euGenes: HUgn6229
    ECgene: RPS24 Kegg: 6229 H-InvDB: RPS24

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RPS24 Pharmacogenomics, SNPs, Pathways
    Diamond-Blackfan Anemia mutation databasehttp://www.dbagenes.unito.it/home.php?select_db=RPS24

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RPS24 gene:
    Search GeneIP for patents involving RPS24

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



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