Aliases for RPS19 Gene
Aliases for RPS19 Gene
External Ids for RPS19 Gene
- HGNC: 10402
- Entrez Gene: 6223
- Ensembl: ENSG00000105372
- OMIM: 603474
- UniProtKB: P39019
Previous GeneCards Identifiers for RPS19 Gene
- GC19P043003
- GC19P042755
- GC19P047040
- GC19P047055
- GC19P042363
- GC19P038795
Summaries 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 1 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 Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include protein kinase binding.
UniProtKB/Swiss-Prot for RPS19 Gene
-
Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
Additional gene information for RPS19 Gene
- Monarch Initiative
- Search for RPS19 at DataMed
- Search for RPS19 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPS19 Gene
Genomics for RPS19 Gene
GeneHancer (GH) Regulatory Elements for RPS19 Gene
Promoters and enhancers for RPS19 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around RPS19 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the RPS19 gene promoter:
-
- p53
- CUTL1
- GR
- HEN1
Regulatory Element Products
Genomic Locations for RPS19 Gene
Genomic Locations for RPS19 Gene
- chr19:41,859,918-41,872,926
- (GRCh38/hg38)
- Size:
- 13,009 bases
- Orientation:
- Plus strand
- chr19:42,363,988-42,376,994
- (GRCh37/hg19)
- Size:
- 13,007 bases
- Orientation:
- Plus strand
Genomic View for RPS19 Gene
Genes around RPS19 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19q13.2 by Entrez Gene
- 19q13.2 by HGNC
- 19q13.2 by Ensembl
RPS19 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for RPS19 Gene
Proteins for RPS19 Gene
-
Protein details for RPS19 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P39019-RS19_HUMAN
- Recommended name:
- 40S ribosomal protein S19
- Protein Accession:
- P39019
Protein attributes for RPS19 Gene
- Size:
- 145 amino acids
- Molecular mass:
- 16060 Da
- Quaternary structure:
-
- Interacts with RPS19BP1.
Protein Expression for RPS19 Gene
Post-translational modifications for RPS19 Gene
Other Protein References for RPS19 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for RPS19
- Novus Biologicals Antibodies for RPS19
-
Abcam antibodies for RPS19
- Invitrogen Antibodies for RPS19 (AFLGC-RPS19)
- GeneTex RPS19 Antibody for RPS19
-
Santa Cruz Biotechnology (SCBT) Antibodies for RPS19
Protein Products
-
OriGene Purified Proteins for RPS19
- Search Origene for MassSpec and Protein Over-expression Lysates for RPS19
- Origene Custom Protein Services for RPS19
- ProSpec Recombinant Proteins for RPS19
- Search GeneTex for Proteins for RPS19
-
ProSci Proteins for RPS19
-
Abcam proteins for RPS19
Assay Products
No data available for DME Specific Peptides for RPS19 Gene
Domains & Families for RPS19 Gene
Gene Families for RPS19 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Ribosomal proteins
Protein Domains for RPS19 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for RPS19 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P39019- Family:
-
- Belongs to the eukaryotic ribosomal protein eS19 family.
Function for RPS19 Gene
Molecular function for RPS19 Gene
- UniProtKB/Swiss-Prot Function:
- Required for pre-rRNA processing and maturation of 40S ribosomal subunits.
- GENATLAS Biochemistry:
- 40S ribosomal protein S19
Phenotypes From GWAS Catalog for RPS19 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | HDA | 22681889 |
| GO:0003735 | structural constituent of ribosome | IEA,IBA | -- |
| GO:0005515 | protein binding | IPI | 16266891 |
| GO:0017134 | fibroblast growth factor binding | IPI | 11716516 |
| GO:0019901 | protein kinase binding | IPI | 16266891 |
Phenotypes for RPS19 Gene
- MGI mutant phenotypes for RPS19:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for RPS19:
-
- Decreased HPV16-GFP infection
- Increased shRNA abundance (Z-score > 2)
- G0/1 arrest
- Increased G1 DNA content
- Decreased Hepatitis C virus replication
- Decreased shRNA abundance (Z-score < -2)
- Negative genetic interaction between KRASG13D/+ and KRAS+/-
- Negative genetic interaction between BLM-/- and BLM+/+
- Decreased viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Decreased cell number
- Increased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Increased gamma-H2AX phosphorylation
- Synthetic lethal with Ras
- Decreased homologous recombination repair frequency
- Decreased NF-kappaB reporter expression
- Increased viability
Animal Models for RPS19 Gene
- MGI Knock Outs for RPS19:
-
- Rps19 Rps19<tm1Dahl>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for RPS19
-
CRISPR Products
-
OriGene CRISPR knockouts for RPS19
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPS19
- genomics-online: gRNA clones - Search results for 114 available RPS19 gene related products
- Overview of 114 available RPS19 gene related products
- Applied Biological Materials CRISPR for RPS19
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPS19
- GenScript: Design CRISPR guide RNA sequences for RPS19
miRNA for RPS19 Gene
- miRTarBase miRNAs that target RPS19
-
- hsa-mir-193b-5p (MIRT038007)
- hsa-mir-501-5p (MIRT041145)
- hsa-mir-3591-5p (MIRT451106)
- hsa-mir-6806-5p (MIRT451107)
- hsa-mir-142-3p (MIRT451108)
- hsa-mir-6840-3p (MIRT451109)
- hsa-mir-874-5p (MIRT451110)
- hsa-mir-648 (MIRT451111)
- hsa-mir-449c-5p (MIRT451112)
- hsa-mir-34b-5p (MIRT451113)
- hsa-mir-2682-5p (MIRT451114)
- hsa-mir-940 (MIRT451115)
- hsa-mir-6893-5p (MIRT451116)
- hsa-mir-6808-5p (MIRT451117)
- hsa-mir-6511a-5p (MIRT451118)
- hsa-mir-1910-3p (MIRT451119)
- hsa-mir-548at-5p (MIRT451120)
- hsa-mir-4477a (MIRT508196)
- hsa-mir-1827 (MIRT508198)
- hsa-mir-7703 (MIRT689216)
- hsa-mir-6720-5p (MIRT689217)
- hsa-mir-6512-3p (MIRT689218)
- hsa-mir-6729-5p (MIRT689219)
- hsa-mir-4649-5p (MIRT689220)
- hsa-mir-566 (MIRT689221)
- hsa-mir-6789-3p (MIRT689222)
- hsa-mir-661 (MIRT689223)
- hsa-mir-4252 (MIRT689224)
- hsa-mir-4487 (MIRT689225)
- hsa-mir-558 (MIRT689226)
- hsa-mir-3160-3p (MIRT689227)
- hsa-mir-1273f (MIRT689228)
- hsa-mir-4708-5p (MIRT689229)
- hsa-mir-6088 (MIRT689230)
- hsa-mir-4770 (MIRT689231)
- hsa-mir-143-3p (MIRT689232)
- hsa-mir-4486 (MIRT689233)
- hsa-mir-4793-3p (MIRT689234)
- hsa-mir-766-3p (MIRT689235)
- hsa-mir-939-3p (MIRT689236)
- hsa-mir-6849-3p (MIRT689237)
- hsa-mir-1273g-3p (MIRT689238)
- hsa-mir-652-3p (MIRT689239)
- hsa-mir-508-5p (MIRT689240)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPS19
- Browse OriGene Inhibitory RNA Products For RPS19
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS19
- genomics-online: shRNA clones - Search results for 114 available RPS19 gene related products
- Overview of 114 available RPS19 gene related products
Clone Products
- Sino Biological Human cDNA Clone for RPS19
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPS19
- Applied Biological Materials Clones for RPS19
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for RPS19 Gene
Localization for RPS19 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RPS19 Gene
- Nucleus. Note=Located more specifically in the nucleoli.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| mitochondrion | 2 |
| endoplasmic reticulum | 1 |
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005622 | intracellular | IEA | -- |
| GO:0005634 | nucleus | IEA | -- |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IDA | 12586610 |
| GO:0005737 | cytoplasm | IDA | 17517689 |
Pathways & Interactions for RPS19 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Viral mRNA Translation |
.77
.55
|
|
| 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 |
.89
|
|
| 5 | HIV Life Cycle |
.45
|
|
Pathways by source for RPS19 Gene
1 BioSystems pathway for RPS19 Gene
1 KEGG pathway for RPS19 Gene
1 GeneGo (Thomson Reuters) pathway for RPS19 Gene
Interacting Proteins for RPS19 Gene
Selected Interacting proteins:
P39019-RS19_HUMAN
ENSP00000470004
for RPS19 Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for RPS19
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000028 | ribosomal small subunit assembly | IMP | 17053056 |
| 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) | IMP | 16990592 |
| GO:0002548 | monocyte chemotaxis | IDA | 11226885 |
| GO:0006364 | rRNA processing | TAS | -- |
Drugs & Compounds for RPS19 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Dihydroartemisinin | Approved, Investigational | Pharma | Target, ligand | 100 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for RPS19 Gene
mRNA/cDNA for RPS19 Gene
- (5) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (2533) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000598742 2359 bps (uc002ort.4)
- ENST00000598466 601 bps (uc060zdc.1)
- ENST00000601492 342 bps (uc060zdd.1)
- ENST00000600467 668 bps (uc060zde.1)
- ENST00000221975 500 bps (uc060zdf.1)
Unigene Clusters for RPS19 Gene
- Ribosomal protein S19:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for RPS19
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for RPS19
- genomics-online: gRNA clones - Search results for 114 available RPS19 gene related products
- Overview of 114 available RPS19 gene related products
- Applied Biological Materials CRISPR for RPS19
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RPS19
- GenScript: Design CRISPR guide RNA sequences for RPS19
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for RPS19
- Browse OriGene Inhibitory RNA Products For RPS19
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPS19
- genomics-online: shRNA clones - Search results for 114 available RPS19 gene related products
- Overview of 114 available RPS19 gene related products
Clone Products
- Sino Biological Human cDNA Clone for RPS19
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for RPS19
- Applied Biological Materials Clones for RPS19
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | |||||||||||||||||||||||
| SP2: | - | - | - | - | - | ||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||
| SP4: | - | - | - | - | - | ||||||||||||||||||||||||
| SP5: | - | - | - | - | |||||||||||||||||||||||||
| SP6: | - | - | - | - | |||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||
| SP8: | - | - |
Expression for RPS19 Gene
This gene is overexpressed in Bone marrow mesenchymal stem cell (10.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPS19 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of RPS19 Gene:
RPS19SOURCE GeneReport for Unigene cluster for RPS19 Gene:
Hs.438429mRNA Expression by UniProt/SwissProt for RPS19 Gene:
P39019-RS19_HUMAN
Tissue specificity:
Higher level expression is seen in the colon carcinoma tissue than normal colon tissue.
Evidence on tissue expression from TISSUES for RPS19 Gene
- Intestine(4.9)
- Nervous system(4.8)
- Eye(4.6)
- Kidney(4.4)
- Liver(4.4)
- Lung(4.4)
- Heart(4.2)
- Skin(4.1)
- Blood(3.9)
- Muscle(3.9)
- Bone marrow(3.5)
- Pancreas(3.5)
- Lymph node(3.3)
- Spleen(3.2)
- Adrenal gland(3.1)
- Stomach(2.7)
- Gall bladder(2.6)
- Thyroid gland(2.6)
Phenotype-based relationships between genes and organs from Gene ORGANizer for RPS19 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
Primer Products
-
OriGene qPCR primer pairs for RPS19
-
OriGene qPCR primer pairs and template standards for RPS19
- genomics-online: primer clones - Search results for 114 available RPS19 gene related products
- Overview of 114 available RPS19 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RPS19 Gene
Orthologs for RPS19 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | RPS19 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | RPS19 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | RPS19 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | LOC100910336 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Rps19 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | RPS19 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | RPS19 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | rps19 33 |
|
||
| Str.10833 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | rps19-prov 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | rps19 34 33 |
|
OneToOne | |
| zgc73211 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | RpS19 35 |
|
|
|
| RpS19b 34 33 |
|
OneToMany | |||
| RpS19a 34 |
|
OneToMany | |||
| CG5338 35 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | rps-19 34 35 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RPS19A 36 34 |
|
||
| RPS19B 34 |
|
OneToMany | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT5G61170 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os03g0424500 33 |
|
- Species where no ortholog for RPS19 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- 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 squirt (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 RPS19 Gene
- ENSEMBL:
- Gene Tree for RPS19 (if available)
- TreeFam:
- Gene Tree for RPS19 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for RPS19: view image
Paralogs for RPS19 Gene
Pseudogenes.org Pseudogenes for RPS19 Gene
No data available for Paralogs for RPS19 Gene
Variants for RPS19 Gene
| SNP ID | Clin | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894711 | pathogenic, Diamond-Blackfan anemia 1, not provided, Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] | 41,869,042(+) | C/T | coding_sequence_variant, missense_variant | |
| rs104894716 | pathogenic, Diamond-Blackfan anemia 1 | 41,861,138(+) | G/A | coding_sequence_variant, stop_gained | |
| rs104894717 | pathogenic, Diamond-Blackfan anemia 1, not provided, Diamond-Blackfan anemia 1 (DBA1) [MIM:105650] | 41,860,817(+) | G/A/T | coding_sequence_variant, missense_variant | |
| rs1049810645 | uncertain-significance, Diamond-Blackfan anemia | 41,860,303(+) | C/T | 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant | |
| rs1060503688 | likely-pathogenic, Diamond-Blackfan anemia | 41,869,724(+) | C/T | coding_sequence_variant, missense_variant, stop_gained |
Residual Variation Intolerance Score:
31.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.04;
0.98% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for RPS19 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPS19 Gene
Disorders for RPS19 Gene
(11) MalaCards diseases for RPS19 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diamond-blackfan anemia 1 |
|
|
| diamond-blackfan anemia |
|
|
| macrocytic anemia |
|
|
| cartilage-hair hypoplasia |
|
|
| endemic typhus |
|
|
Search RPS19 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
RS19_HUMAN- 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. {ECO:0000269 PubMed:10590074, ECO:0000269 PubMed:11112378, ECO:0000269 PubMed:12586610, ECO:0000269 PubMed:12750732, ECO:0000269 PubMed:15384984, ECO:0000269 PubMed:17517689, ECO:0000269 PubMed:18412286, ECO:0000269 PubMed:9988267, ECO:0000269 Ref.23}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for RPS19
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for RPS19 Gene
Publications for RPS19 Gene
- Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity. (PMID: 20054847) Crétien A … Da Costa L (American journal of hematology 2010) 3 22 44 58
- RPS19 mutations in patients with Diamond-Blackfan anemia. (PMID: 18412286) Campagnoli MF … Dianzani I (Human mutation 2008) 3 4 22 58
- Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits. (PMID: 16990592) Flygare J … Ellis SR (Blood 2007) 3 4 22 58
- Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome. (PMID: 17517689) Angelini M … Loreni F (Human molecular genetics 2007) 3 4 22 58
- A four base pair insertion in exon 1 of the RPS19 gene is a common polymorphism in African-Americans. (PMID: 17107358) Huang Q … Mason PJ (British journal of haematology 2006) 3 22 44 58
Products for RPS19 Gene
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