RPS28 Gene (Protein Coding)

Ribosomal Protein S28

GC19P008322
GIFtS:
40
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 S28E family of ribosomal proteins. It is located in t... See more...

Aliases for RPS28 Gene

Aliases for RPS28 Gene

  • Ribosomal Protein S28 2 3 5
  • 40S Ribosomal Protein S28 2 3 4
  • Small Ribosomal Subunit Protein ES28 3 4
  • ES28 2 3
  • S28 2 3
  • DBA15 3
  • RPS28 5

External Ids for RPS28 Gene

Previous GeneCards Identifiers for RPS28 Gene

  • GC19M008155
  • GC19P008476
  • GC19P008281
  • GC19P008292
  • GC19P008386
  • GC19P008040

Summaries for RPS28 Gene

Entrez Gene Summary for RPS28 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 S28E family of ribosomal proteins. It is located in the cytoplasm. 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 RPS28 Gene

RPS28 (Ribosomal Protein S28) is a Protein Coding gene. Diseases associated with RPS28 include Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis and Diamond-Blackfan Anemia. Among its related pathways are Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S and rRNA processing in the nucleus and cytosol. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

Gene Wiki entry for RPS28 Gene

Additional gene information for RPS28 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPS28 Gene

Genomics for RPS28 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RPS28 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH19J008319 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 744.4 +0.6 570 4.1 BRCA1 ARHGAP35 SP1 HNRNPL CREB1 ATF7 TEAD4 PRDM10 ZNF629 TFE3 RPS28 ENSG00000167774 NDUFA7 lnc-NDUFA7-1 piR-53910-003 HNRNPM XAB2 ZNF699 ZNF317 ZNF558
GH19J008323 Enhancer 0.9 Ensembl ENCODE 140.3 +3.5 3501 1.5 HNRNPL HNRNPUL1 RBFOX2 POLR2A ZBTB20 EGR1 CTCF SNRNP70 ESR1 ZBED1 piR-58171 RPS28 HNRNPM ZNF558 XAB2 ZNF699 ZNF317 MAP2K7 ZNF559 ELAVL1
GH19J008340 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 71.7 +21.0 20961 3.6 SP1 GATAD2A TEAD4 PRDM10 IKZF1 KDM1A FOS LARP7 DDX20 PKNOX1 KANK3 RPS28 ELAVL1 HNRNPM ZNF558 ZNF699 XAB2 ENSG00000269300 MAP2K7 ZNF317
GH19J008334 Promoter/Enhancer 1 Ensembl ENCODE 83.6 +14.1 14143 1.8 CTCF ZNF692 PHF21A POLR2A EZH2 ZFX NRF1 KLF9 UBTF ZNF10 RPS28 KANK3 NDUFA7 piR-58171 lnc-KANK3-3
GH19J008328 Enhancer 0.6 Ensembl 144.2 +9.0 9043 2.8 ZNF692 FOXA1 ZIC2 PKNOX1 NR2C1 EGR1 ZFHX2 ZNF384 ZFP69B EGR2 RPS28 CD320 NDUFA7 piR-58171 KANK3 lnc-KANK3-3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPS28 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPS28

Top Transcription factor binding sites by QIAGEN in the RPS28 gene promoter:
  • AML1a
  • ATF6
  • Bach1
  • Bach2
  • C/EBPalpha
  • CHOP-10
  • CUTL1
  • GATA-2
  • HEN1
  • RORalpha1

Genomic Locations for RPS28 Gene

Genomic Locations for RPS28 Gene
chr19:8,321,158-8,323,340
(GRCh38/hg38)
Size:
2,183 bases
Orientation:
Plus strand
chr19:8,386,042-8,388,224
(GRCh37/hg19)
Size:
2,183 bases
Orientation:
Plus strand

Genomic View for RPS28 Gene

Genes around RPS28 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPS28 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPS28 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RPS28 Gene

Proteins for RPS28 Gene

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  • Protein details for RPS28 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P62857-RS28_HUMAN
    Recommended name:
    40S ribosomal protein S28
    Protein Accession:
    P62857
    Secondary Accessions:
    • P25112

    Protein attributes for RPS28 Gene

    Size:
    69 amino acids
    Molecular mass:
    7841 Da
    Quaternary structure:
    • Component of the 40S small ribosomal subunit.

    Three dimensional structures from OCA and Proteopedia for RPS28 Gene

neXtProt entry for RPS28 Gene

Protein Expression for RPS28 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for RPS28 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RPS28 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RPS28 Gene

Domains & Families for RPS28 Gene

Gene Families for RPS28 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RPS28 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RPS28 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ92192, Homo sapiens ribosomal protein S28 (RPS28), mRNA (B2R4R9_HUMAN)
  • cDNA FLJ59668 (B4DEI1_HUMAN)
  • 40S ribosomal protein S28 (RS28_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P62857

UniProtKB/Swiss-Prot:

RS28_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eS28 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eS28 family.
genes like me logo Genes that share domains with RPS28: view

Function for RPS28 Gene

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  2. CRISPR
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Molecular function for RPS28 Gene

GENATLAS Biochemistry:
60S ribosomal protein S28

Phenotypes From GWAS Catalog for RPS28 Gene

Gene Ontology (GO) - Molecular Function for RPS28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003735 structural constituent of ribosome IBA 21873635
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RPS28: view
genes like me logo Genes that share phenotypes with RPS28: view

Human Phenotype Ontology for RPS28 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS28

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for RPS28 Gene

Localization for RPS28 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPS28 Gene

Cytoplasm, cytosol. Cytoplasm. Rough endoplasmic reticulum. Note=Detected on cytosolic polysomes (PubMed:25957688). Detected in ribosomes that are associated with the rough endoplasmic reticulum (By similarity). {ECO:0000250 UniProtKB:Q6QAT1, ECO:0000269 PubMed:25957688}.

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 RPS28 gene
Compartment Confidence
cytosol 5
extracellular 4
nucleus 4
endoplasmic reticulum 4
mitochondrion 3
plasma membrane 1
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPS28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005791 rough endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RPS28: view

Pathways & Interactions for RPS28 Gene

PathCards logo

SuperPathways for RPS28 Gene

SuperPathway Contained pathways
1 Viral mRNA Translation
Eukaryotic Translation Elongation
.95
Peptide chain elongation
.95
Cap-dependent Translation Initiation
.94
Eukaryotic Translation Initiation
.94
GTP hydrolysis and joining of the 60S ribosomal subunit
.94
L13a-mediated translational silencing of Ceruloplasmin expression
.94
Selenocysteine synthesis
.93
Viral mRNA Translation
.93
Eukaryotic Translation Termination
.92
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
.91
Formation of a pool of free 40S subunits
.90
Cytoplasmic Ribosomal Proteins
.84
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
.83
Nonsense-Mediated Decay (NMD)
.83
CFTR translational fidelity (class I mutations)
.79
Selenoamino acid metabolism
.78
SRP-dependent cotranslational protein targeting to membrane
.77
Translation
.77
Ribosome
.53
Metabolism of amino acids and derivatives
.34
2 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S
.94
Ribosomal scanning and start codon recognition
.94
Formation of the ternary complex, and subsequently, the 43S complex
.87
Translation initiation complex formation
.85
3 Influenza Viral RNA Transcription and Replication
Influenza Life Cycle
.94
Influenza Viral RNA Transcription and Replication
.94
Influenza Infection
.93
4 rRNA processing in the nucleus and cytosol
Major pathway of rRNA processing in the nucleolus and cytosol
.94
rRNA processing in the nucleus and cytosol
.94
rRNA processing
.89
5 HIV Life Cycle
Infectious disease
.61
Disease
.45
genes like me logo Genes that share pathways with RPS28: view

Pathways by source for RPS28 Gene

1 BioSystems pathway for RPS28 Gene
1 KEGG pathway for RPS28 Gene
1 GeneGo (Thomson Reuters) pathway for RPS28 Gene
  • CFTR translational fidelity (class I mutations)

Gene Ontology (GO) - Biological Process for RPS28 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA 21873635
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0002181 cytoplasmic translation IDA 25957688
GO:0006364 rRNA processing IMP 18697920
GO:0006412 translation IC 8706699
genes like me logo Genes that share ontologies with RPS28: view

No data available for SIGNOR curated interactions for RPS28 Gene

Drugs & Compounds for RPS28 Gene

Products:

  1. Drug

(1) Drugs for RPS28 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dihydroartemisinin Experimental, Investigational Pharma Target, ligand 115
genes like me logo Genes that share compounds with RPS28: view

Transcripts for RPS28 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for RPS28 Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS28

Alternative Splicing Database (ASD) splice patterns (SP) for RPS28 Gene

No ASD Table

Relevant External Links for RPS28 Gene

GeneLoc Exon Structure for
RPS28

Expression for RPS28 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPS28 Gene

mRNA expression in normal human tissues for RPS28 Gene
mRNA expression by BioGPS for RPS28 GenemRNA expression by GTEx for RPS28 Gene

Protein differential expression in normal tissues from HIPED for RPS28 Gene

This gene is overexpressed in Bone marrow stromal cell (8.2) and Peripheral blood mononuclear cells (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPS28 Gene



Protein tissue co-expression partners for RPS28 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPS28

SOURCE GeneReport for Unigene cluster for RPS28 Gene:

Hs.153177

Evidence on tissue expression from TISSUES for RPS28 Gene

  • Muscle(4.8)
  • Liver(4.7)
  • Nervous system(4.4)
  • Pancreas(3.8)
  • Heart(3.6)
  • Intestine(3.6)
  • Stomach(3.4)
  • Blood(3.1)
  • Skin(3.1)
  • Kidney(3)
  • Lung(2.7)
  • Bone marrow(2.7)
  • Spleen(2.7)
  • Lymph node(2.4)
  • Thyroid gland(2.4)
  • Adrenal gland(2.3)
  • Eye(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS28 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
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 RPS28: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for RPS28 Gene

Orthologs for RPS28 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPS28 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RPS28 30 31
  • 99.52 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia RPS28 31
  • 99 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RPS28 30
  • 93.24 (n)
Cow
(Bos Taurus)
 Mammalia RPS28 30 31
  • 93.24 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rps28 30 17 31
  • 87.92 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rps28 30
  • 85.99 (n)
Chicken
(Gallus gallus)
 Aves RPS28 30 31
  • 86.47 (n)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rps28p9 30
  • 76.81 (n)
Str.17156 30
Zebrafish
(Danio rerio)
 Actinopterygii rps28 30 31
  • 77.29 (n)
 OneToOne
Dr.24923 30
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.827 30
Fruit Fly
(Drosophila melanogaster)
 Insecta RpS28a 31
  • 77 (a)
 OneToMany
RpS28b 30 31
  • 71.43 (n)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003412 30
  • 73.45 (n)
Worm
(Caenorhabditis elegans)
 Secernentea rps-28 30 31
  • 72.68 (n)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RPS28B 31
  • 73 (a)
 OneToMany
RPS28A 30 31
  • 63.98 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AGR261W 30
  • 66.67 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0F20383g 30
  • 63.68 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons RPS28 30
  • 68.33 (n)
Rice
(Oryza sativa)
 Liliopsida Os10g0411700 30
  • 69.23 (n)
Barley
(Hordeum vulgare)
 Liliopsida Hv.2070 30
Corn
(Zea mays)
 Liliopsida Zm.16049 30
Bread mold
(Neurospora crassa)
 Ascomycetes NCU05599 30
  • 69.12 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rps2802 30
  • 64.71 (n)
Species where no ortholog for RPS28 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 RPS28 Gene

ENSEMBL:
Gene Tree for RPS28 (if available)
TreeFam:
Gene Tree for RPS28 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPS28: view image

Paralogs for RPS28 Gene

No data available for Paralogs for RPS28 Gene

Variants for RPS28 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPS28 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
668538 Likely Benign: not provided 8,321,709(+) C/T INTRON_VARIANT
rs786203997 Pathogenic: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis 8,321,531(+) A/G INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RPS28 Gene

Variation tolerance for RPS28 Gene

Residual Variation Intolerance Score: 59.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.43% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPS28 Gene

Human Gene Mutation Database (HGMD)
RPS28
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPS28

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for RPS28 Gene

Disorders for RPS28 Gene

MalaCards: The human disease database

(7) MalaCards diseases for RPS28 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 15 with mandibulofacial dysostosis
  • dba15
diamond-blackfan anemia
  • diamond-blackfan anemia 1
dysostosis
  • dysostoses
macrocytic anemia
  • anemia macrocytic
chromosome 5q deletion syndrome
  • 5q- syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RPS28 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RS28_HUMAN
  • Diamond-Blackfan anemia 15, with mandibulofacial dysostosis (DBA15) [MIM:606164]: 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 malignancy. 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:24942156}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPS28

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RPS28: view

No data available for Genatlas for RPS28 Gene

Publications for RPS28 Gene

  1. A map of 75 human ribosomal protein genes. (PMID: 9582194) Kenmochi N … Page DC (Genome research 1998) 2 3 4
  2. Structural snapshots of actively translating human ribosomes. (PMID: 25957688) Behrmann E … Spahn CM (Cell 2015) 3 4
  3. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. (PMID: 24942156) Gripp KW … Sol-Church K (American journal of medical genetics. Part A 2014) 3 4
  4. Structures of the human and Drosophila 80S ribosome. (PMID: 23636399) Anger AM … Beckmann R (Nature 2013) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

ExternalLinks

View latest publications for RPS28 gene in Mastermind

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