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Aliases for RPS24 Gene

Aliases for RPS24 Gene

  • Ribosomal Protein S24 2 3 5
  • Small Ribosomal Subunit Protein ES24 3 4
  • 40S Ribosomal Protein S24 3
  • DBA3 3
  • S24 3

External Ids for RPS24 Gene

Previous GeneCards Identifiers for RPS24 Gene

  • GC10P078750
  • GC10P079003
  • GC10P079686
  • GC10P079138
  • GC10P079463
  • GC10P079793
  • GC10P073788

Summaries for RPS24 Gene

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 Diamond-Blackfan Anemia 3 and Diamond-Blackfan Anemia. Among its related pathways are Viral mRNA Translation and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S. GO annotations related to this gene include poly(A) RNA binding and structural constituent of ribosome.

UniProtKB/Swiss-Prot for RPS24 Gene

  • Required for processing of pre-rRNA and maturation of 40S ribosomal subunits.

Gene Wiki entry for RPS24 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS24 Gene

Genomics for RPS24 Gene

Regulatory Elements for RPS24 Gene

Enhancers for RPS24 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G077906 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -124.4 -124396 6.2 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YY1 IMPDH1P5 ENSG00000228748 ENSG00000204049 DLG5 POLR3A RPS24 RN7SL284P LOC101929347
GH10G077988 0.9 ENCODE 20.6 -44.4 -44430 1.3 FOXA2 MLX ARID4B DMAP1 RAD21 ZSCAN9 RARA CREM MIXL1 THAP11 RPS24 POLR3A DLG5 DLG5-AS1 RN7SL284P ENSG00000204049 GC10P079493
GH10G077885 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -144.8 -144792 6.7 PKNOX1 ATF1 FOXA2 ZFP64 ARID4B SIN3A GLI4 ZNF48 YY1 FOS DLG5 DLG5-AS1 RN7SL284P ENSG00000204049 ENSG00000228748 LOC399783 POLR3A RPS24 LOC101929347 LOC100131132
GH10G077968 0.8 ENCODE 17.2 -64.4 -64407 1.3 HDAC1 TAL1 ZNF316 GATA2 NFE2 MAFK SMARCE1 MTA2 RNF2 ZBTB2 RPS24 DLG5 DLG5-AS1 RN7SL284P ENSG00000204049 POLR3A GC10P079493
GH10G078032 1.1 ENCODE 12.5 +0.8 778 3.5 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 RPS24 LOC399783 DLG5-AS1 GNAI2P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RPS24 on UCSC Golden Path with GeneCards custom track

Promoters for RPS24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000030442 340 1801 HDGF PKNOX1 FOXA2 CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for RPS24 Gene

Chromosome:
10
Start:
78,033,760 bp from pter
End:
78,056,813 bp from pter
Size:
23,054 bases
Orientation:
Plus strand

Genomic View for RPS24 Gene

Genes around RPS24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPS24 Gene

Proteins for RPS24 Gene

  • Protein details for RPS24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62847-RS24_HUMAN
    Recommended name:
    40S ribosomal protein S24
    Protein Accession:
    P62847
    Secondary Accessions:
    • E7EPK6
    • P16632
    • Q5T0P7
    • Q5T0P8
    • Q7Z3D1

    Protein attributes for RPS24 Gene

    Size:
    133 amino acids
    Molecular mass:
    15423 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for RPS24 Gene

    Alternative splice isoforms for RPS24 Gene

neXtProt entry for RPS24 Gene

Post-translational modifications for RPS24 Gene

  • Ubiquitination at Lys21, Lys32, Lys37, Lys49, isoforms=2, 3, 468, and Lys83
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for RPS24 Gene

Domains & Families for RPS24 Gene

Gene Families for RPS24 Gene

Suggested Antigen Peptide Sequences for RPS24 Gene

Graphical View of Domain Structure for InterPro Entry

P62847

UniProtKB/Swiss-Prot:

RS24_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS24 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eS24 family.
genes like me logo Genes that share domains with RPS24: view

Function for RPS24 Gene

Molecular function for RPS24 Gene

GENATLAS Biochemistry:
40S ribosomal protein S24,small subunit,5kDa
UniProtKB/Swiss-Prot Function:
Required for processing of pre-rRNA and maturation of 40S ribosomal subunits.

Gene Ontology (GO) - Molecular Function for RPS24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22658674
GO:0003735 structural constituent of ribosome IEA,NAS 18412286
GO:0031369 translation initiation factor binding ISS --
genes like me logo Genes that share ontologies with RPS24: view
genes like me logo Genes that share phenotypes with RPS24: view

Human Phenotype Ontology for RPS24 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for RPS24 Gene

miRTarBase miRNAs that target RPS24

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS24 Gene

Localization for RPS24 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RPS24 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2

Gene Ontology (GO) - Cellular Components for RPS24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IDA 21630459
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with RPS24: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPS24 Gene

Pathways & Interactions for RPS24 Gene

SuperPathways for RPS24 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
.56
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
3 Influenza Viral RNA Transcription and Replication
4 rRNA processing in the nucleus and cytosol
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with RPS24: view

Gene Ontology (GO) - Biological Process for RPS24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0006364 rRNA processing TAS --
GO:0006412 translation IC,IEA 8706699
GO:0006413 translational initiation TAS --
genes like me logo Genes that share ontologies with RPS24: view

No data available for SIGNOR curated interactions for RPS24 Gene

Transcripts for RPS24 Gene

Unigene Clusters for RPS24 Gene

Ribosomal protein S24:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPS24 Gene

No ASD Table

Relevant External Links for RPS24 Gene

GeneLoc Exon Structure for
RPS24
ECgene alternative splicing isoforms for
RPS24

Expression for RPS24 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPS24 Gene

Protein differential expression in normal tissues from HIPED for RPS24 Gene

This gene is overexpressed in Nasal epithelium (15.6) and Tlymphocyte (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPS24 Gene



Protein tissue co-expression partners for RPS24 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPS24 Gene:

RPS24

SOURCE GeneReport for Unigene cluster for RPS24 Gene:

Hs.280130

mRNA Expression by UniProt/SwissProt for RPS24 Gene:

P62847-RS24_HUMAN
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.

Evidence on tissue expression from TISSUES for RPS24 Gene

  • Nervous system(5)
  • Eye(4.8)
  • Muscle(4.8)
  • Kidney(4.7)
  • Lung(4.5)
  • Intestine(4.4)
  • Liver(4.4)
  • Pancreas(4.4)
  • Skin(4.1)
  • Heart(3.7)
  • Bone(3.6)
  • Bone marrow(3.2)
  • Blood(3.1)
  • Lymph node(3)
  • Adrenal gland(2.9)
  • Spleen(2.9)
  • Gall bladder(2.8)
  • Thyroid gland(2.8)
  • Stomach(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS24 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
Thorax:
  • aorta
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • penis
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with RPS24: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RPS24 Gene

Orthologs for RPS24 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS24 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPS24 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia RPS24 34
  • 93.43 (n)
-- 35
  • 93 (a)
OneToMany
-- 35
  • 92 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
-- 35
  • 88 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia RPS24 34 35
  • 92.05 (n)
mouse
(Mus musculus)
Mammalia Rps24 34 16 35
  • 88.89 (n)
rat
(Rattus norvegicus)
Mammalia Rps24 34
  • 88.64 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPS24 35
  • 83 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RPS24 35
  • 53 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPS24 34 35
  • 84.85 (n)
lizard
(Anolis carolinensis)
Reptilia RPS24 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rps24 34
  • 81.17 (n)
zebrafish
(Danio rerio)
Actinopterygii rps24 34 35
  • 78.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG3751 36
  • 77 (a)
RpS24 34 35
  • 68.77 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005131 34
  • 65.63 (n)
worm
(Caenorhabditis elegans)
Secernentea rps-24 36 34 35
  • 61.79 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPS24A 34 35
  • 63.93 (n)
RPS24B 35 37
  • 46 (a)
OneToMany
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C07755g 34
  • 62.33 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACL043W 34
  • 62.02 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G04920 34
  • 67.45 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.2466 34
rice
(Oryza sativa)
Liliopsida Os02g0229000 34
  • 59.9 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.3058 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11310 35
  • 64 (a)
OneToOne
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes rps2402 34
  • 63.66 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU07182 34
  • 60.81 (n)
Species where no ortholog for RPS24 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPS24 Gene

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

Paralogs for RPS24 Gene

No data available for Paralogs for RPS24 Gene

Variants for RPS24 Gene

Sequence variations from dbSNP and Humsavar for RPS24 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs104894188 Pathogenic 78,037,230(+) GAAAG(C/T)AACGA reference, stop-gained
rs104894189 Pathogenic 78,035,394(+) CCAAC(C/T)GACTA reference, stop-gained
rs116840806 Pathogenic 78,035,352(+) TTCAG(AAC/TACGGATAG)GACAC cds-indel
rs886039545 Pathogenic 78,033,902(+) CCATC(A/G)TGGTG reference, missense
rs114512325 Likely benign 78,040,616(+) ACAGC(C/G/T)GAAGG intron-variant, reference, missense, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for RPS24 Gene

Variant ID Type Subtype PubMed ID
esv2676466 CNV deletion 23128226
esv3623885 CNV loss 21293372
nsv948078 CNV duplication 23825009

Variation tolerance for RPS24 Gene

Gene Damage Index Score: 0.21; 4.72% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RPS24 Gene

Human Gene Mutation Database (HGMD)
RPS24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS24 Gene

Disorders for RPS24 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RPS24 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 3
  • anemia diamond-blackfan 3
diamond-blackfan anemia
  • diamond-blackfan anemia 1
rps24-related diamond-blackfan anemia
  • diamond-blackfan anemia 3
detrusor sphincter dyssynergia
  • detrusor and sphincter dyssynergia
cataract 31, multiple types
  • cataract 31 multiple types
- elite association - COSMIC cancer census association via MalaCards
Search RPS24 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS24_HUMAN
  • 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. {ECO:0000269 PubMed:17186470}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for RPS24

Genetic Association Database (GAD)
RPS24
Human Genome Epidemiology (HuGE) Navigator
RPS24
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RPS24
genes like me logo Genes that share disorders with RPS24: view

No data available for Genatlas for RPS24 Gene

Publications for RPS24 Gene

  1. Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia. (PMID: 17186470) Gazda H.T. … Sieff C.A. (Am. J. Hum. Genet. 2006) 3 4 22 64
  2. The gene encoding human ribosomal protein S24 and tissue-specific expression of differentially spliced mRNAs. (PMID: 8647458) Xu W.-B. … Roufa D.J. (Gene 1996) 3 4 22 64
  3. A cDNA encoding human ribosomal protein S24. (PMID: 2210388) Brown S.J. … Roufa D.J. (Gene 1990) 3 4 22 64
  4. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations. (PMID: 19773262) Quarello P. … Ramenghi U. (Haematologica 2010) 3 46 64
  5. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PMID: 20378560) Konno Y. … Ito E. (Haematologica 2010) 3 46 64

Products for RPS24 Gene

Sources for RPS24 Gene

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