RPL13 Gene (Protein Coding)

Ribosomal Protein L13

GC16P089640
GIFtS:
41
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 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in t... See more...

Aliases for RPL13 Gene

Aliases for RPL13 Gene

  • Ribosomal Protein L13 2 3 5
  • BBC1 2 3 4
  • Large Ribosomal Subunit Protein EL13 3 4
  • Breast Basic Conserved Protein 1 3 4
  • 60S Ribosomal Protein L13 3 4
  • Breast Basic Conserved 1 2 3
  • D16S444E 2 3
  • L13 2 3
  • OK/SW-Cl.46 3
  • D16S44E 3
  • SEMDIST 3
  • RPL13 5

External Ids for RPL13 Gene

Previous GeneCards Identifiers for RPL13 Gene

  • GC16P081509
  • GC16P090614
  • GC16P089330
  • GC16P089370
  • GC16P088154
  • GC16P089630
  • GC16P089631
  • GC16P075322
  • GC16P089633
  • GC16P089637
  • GC16P089650
  • GC16P089659
  • GC16P089669
  • GC16P089562
  • GC16P089570
  • GC16P089612
  • GC16P089617
  • GC16P089618
  • GC16P089623
  • GC16P089576
  • GC16P089580
  • GC16P089584
  • GC16P089589
  • GC16P089593
  • GC16P089598
  • GC16P089602
  • GC16P089609

Summaries for RPL13 Gene

Entrez Gene Summary for RPL13 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 60S subunit. The protein belongs to the L13E family of ribosomal proteins. It is located in the cytoplasm. This gene is expressed at significantly higher levels in benign breast lesions than in breast carcinomas. Alternatively spliced transcript variants encoding distinct 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. [provided by RefSeq, Jul 2011]

GeneCards Summary for RPL13 Gene

RPL13 (Ribosomal Protein L13) is a Protein Coding gene. Diseases associated with RPL13 include Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type and Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related. Among its related pathways are rRNA processing in the nucleus and cytosol and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include structural constituent of ribosome.

UniProtKB/Swiss-Prot Summary for RPL13 Gene

  • Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:31630789, PubMed:23636399). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (Probable). The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain (Probable). The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (Probable). As part of the LSU, it is probably required for its formation and the maturation of rRNAs (PubMed:31630789). Plays a role in bone development (PubMed:31630789).

Gene Wiki entry for RPL13 Gene

Additional gene information for RPL13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RPL13 Gene

Genomics for RPL13 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for RPL13 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
GH16J089558 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 654.1 +2.0 1974 7.9 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 ZNF512 SOX13 RPL13 SNORD68 NONHSAG020350.2-001 NONHSAG020350.2-002 piR-31703 AFG3L1P ENSG00000268218 ANKRD11 ENSG00000261118 ACSF3
GH16J088809 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 22.1 -749.4 -749380 4.4 CEBPG SP1 GATAD2A CTCF HNRNPL TEAD4 PRDM10 ZNF629 TFE3 NFKBIZ APRT lnc-GALNS-1 ENSG00000259877 ANKRD11 SNORD68 ENSG00000261118 ZC3H18 GALNS ENSG00000268218 RPL13
GH16J089503 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 17.2 -53.6 -53590 6.3 ZNF221 CREB1 GATAD2A ZBTB33 HNRNPL ATF7 PRDM10 ZNF629 TFE3 LEF1 SPG7 ENSG00000261118 NONHSAG020345.2 AFG3L1P MC1R ZC3H18 ENSG00000268218 ANKRD11 TCF25 ENSG00000259877
GH16J088990 Enhancer 1.8 VISTA Ensembl ENCODE CraniofacialAtlas dbSUPER 23.9 -567.3 -567304 4.9 ARHGAP35 LEF1 IKZF1 JUND ETV6 DDX20 MTA2 PHF21A HNRNPUL1 PKNOX1 SNORD68 RPL13 ANKRD11 AFG3L1P ACSF3 LOC100129697 ZC3H18 ENSG00000268218 ENSG00000260121 ENSG00000261118
GH16J089480 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 16.6 -73.9 -73903 12 CEBPG SP1 CREB1 GATAD2A TEAD4 PRDM10 ZNF629 REST TFE3 NFKBIZ ANKRD11 SPG7 AFG3L1P MC1R ENSG00000259877 RPL13 TCF25 ZNF778 RNU6-430P SNORD68
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RPL13 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RPL13

Top Transcription factor binding sites by QIAGEN in the RPL13 gene promoter:
  • aMEF-2
  • LCR-F1
  • MEF-2A
  • Olf-1
  • RFX1

Genomic Locations for RPL13 Gene

Genomic Locations for RPL13 Gene
chr16:89,560,657-89,566,829
(GRCh38/hg38)
Size:
6,173 bases
Orientation:
Plus strand
chr16:89,627,065-89,630,950
(GRCh37/hg19)
Size:
3,886 bases
Orientation:
Plus strand

Genomic View for RPL13 Gene

Genes around RPL13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPL13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPL13 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for RPL13 Gene

Proteins for RPL13 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for RPL13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P26373-RL13_HUMAN
    Recommended name:
    60S ribosomal protein L13
    Protein Accession:
    P26373
    Secondary Accessions:
    • B4DLX3
    • F5H1S2
    • Q3KQT8
    • Q567Q8
    • Q9BPX0

    Protein attributes for RPL13 Gene

    Size:
    211 amino acids
    Molecular mass:
    24261 Da
    Quaternary structure:
    • Component of the 60S large ribosomal subunit (LSU).

    Three dimensional structures from OCA and Proteopedia for RPL13 Gene

    Alternative splice isoforms for RPL13 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPL13 Gene

Protein Expression for RPL13 Gene

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

Post-translational modifications for RPL13 Gene

  • Ubiquitination at Lys145, Lys105, Lys123, Lys174, and Lys177
  • Modification sites at PhosphoSitePlus

Other Protein References for RPL13 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for RPL13
  • Boster Bio Antibodies for RPL13

No data available for DME Specific Peptides for RPL13 Gene

Domains & Families for RPL13 Gene

Gene Families for RPL13 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Ribosomal proteins

Protein Domains for RPL13 Gene

InterPro:
Blocks:
  • Ribosomal protein L13e
ProtoNet:

Suggested Antigen Peptide Sequences for RPL13 Gene

GenScript: Design optimal peptide antigens:
  • 60S ribosomal protein L13 (A8K4C8_HUMAN)
  • 60S ribosomal protein L13 (F5H1S2_HUMAN)
  • 60S ribosomal protein L13 (Q6NZ55_HUMAN)
  • Breast basic conserved protein 1 (RL13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P26373

UniProtKB/Swiss-Prot:

RL13_HUMAN :
  • Belongs to the eukaryotic ribosomal protein eL13 family.
Family:
  • Belongs to the eukaryotic ribosomal protein eL13 family.
genes like me logo Genes that share domains with RPL13: view

Function for RPL13 Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
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  5. Clone
  6. Cell Line

Molecular function for RPL13 Gene

UniProtKB/Swiss-Prot Function:
Component of the ribosome, a large ribonucleoprotein complex responsible for the synthesis of proteins in the cell (PubMed:31630789, PubMed:23636399). The small ribosomal subunit (SSU) binds messenger RNAs (mRNAs) and translates the encoded message by selecting cognate aminoacyl-transfer RNA (tRNA) molecules (Probable). The large subunit (LSU) contains the ribosomal catalytic site termed the peptidyl transferase center (PTC), which catalyzes the formation of peptide bonds, thereby polymerizing the amino acids delivered by tRNAs into a polypeptide chain (Probable). The nascent polypeptides leave the ribosome through a tunnel in the LSU and interact with protein factors that function in enzymatic processing, targeting, and the membrane insertion of nascent chains at the exit of the ribosomal tunnel (Probable). As part of the LSU, it is probably required for its formation and the maturation of rRNAs (PubMed:31630789). Plays a role in bone development (PubMed:31630789).
GENATLAS Biochemistry:
60S ribosomal protein 13,underexpressed in hormone refractory prostate cancer

Phenotypes From GWAS Catalog for RPL13 Gene

Gene Ontology (GO) - Molecular Function for RPL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding TAS,IBA 21873635
GO:0003735 structural constituent of ribosome IEA,NAS 12962325
GO:0005515 protein binding IPI 17474147
genes like me logo Genes that share ontologies with RPL13: view
genes like me logo Genes that share phenotypes with RPL13: view

Animal Model Products

CRISPR Products

miRNA for RPL13 Gene

miRTarBase miRNAs that target RPL13

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RPL13

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPL13 Gene

Localization for RPL13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPL13 Gene

Cytoplasm.

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 RPL13 gene
Compartment Confidence
nucleus 5
cytosol 5
endoplasmic reticulum 4
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Endoplasmic reticulum (4)
  • Nucleoli (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RPL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005730 nucleolus IDA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005829 cytosol TAS --
GO:0005840 ribosome IEA --
genes like me logo Genes that share ontologies with RPL13: view

Pathways & Interactions for RPL13 Gene

genes like me logo Genes that share pathways with RPL13: view

Pathways by source for RPL13 Gene

1 BioSystems pathway for RPL13 Gene
1 KEGG pathway for RPL13 Gene
1 GeneGo (Thomson Reuters) pathway for RPL13 Gene
  • CFTR translational fidelity (class I mutations)

Gene Ontology (GO) - Biological Process for RPL13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS --
GO:0006412 translation IEA,NAS 12962325
GO:0006413 translational initiation TAS --
GO:0006614 SRP-dependent cotranslational protein targeting to membrane TAS --
GO:0019083 viral transcription TAS --
genes like me logo Genes that share ontologies with RPL13: view

No data available for SIGNOR curated interactions for RPL13 Gene

Drugs & Compounds for RPL13 Gene

Products:

  1. Drug

(2) Drugs for RPL13 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2330
Thalidomide Approved, Investigational, Withdrawn Pharma Immunomodulatory agent,sedative drug,angiogenesis inhibitor, TNF-alpha synthesis inhibitor, Immunomodulatory agents 429
genes like me logo Genes that share compounds with RPL13: view

Transcripts for RPL13 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
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mRNA/cDNA for RPL13 Gene

4 REFSEQ mRNAs :
30 NCBI additional mRNA sequence :
15 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 RPL13

Alternative Splicing Database (ASD) splice patterns (SP) for RPL13 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d ^ 7a · 7b · 7c · 7d · 7e
SP1: - - - - -
SP2: -
SP3:
SP4: - - - - - - -
SP5: -
SP6: - - - - -
SP7: - -
SP8:
SP9: -
SP10: - -

Relevant External Links for RPL13 Gene

GeneLoc Exon Structure for
RPL13

Expression for RPL13 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RPL13 Gene

mRNA expression in normal human tissues for RPL13 Gene
mRNA expression by BioGPS for RPL13 GenemRNA expression by GTEx for RPL13 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RPL13 Gene

This gene is overexpressed in Tlymphocyte (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RPL13 Gene



Protein tissue co-expression partners for RPL13 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RPL13

SOURCE GeneReport for Unigene cluster for RPL13 Gene:

Hs.410817

mRNA Expression by UniProt/SwissProt for RPL13 Gene:

P26373-RL13_HUMAN
Tissue specificity: Higher levels of expression in benign breast lesions than in carcinomas.

Evidence on tissue expression from TISSUES for RPL13 Gene

  • Nervous system(5)
  • Lung(4.8)
  • Pancreas(4.8)
  • Skin(4.7)
  • Liver(4.7)
  • Blood(4.7)
  • Eye(4.6)
  • Intestine(4.5)
  • Kidney(4.5)
  • Muscle(4.4)
  • Stomach(3.4)
  • Heart(3.1)
  • Spleen(3.1)
  • Bone(2.9)
  • Bone marrow(2.9)
  • Lymph node(2.6)
  • Gall bladder(2.6)
  • Adrenal gland(2.3)
  • Thyroid gland(2.2)
genes like me logo Genes that share expression patterns with RPL13: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPL13 Gene

Orthologs for RPL13 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RPL13 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia RPL13 30 31
  • 99.05 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia RPL13 31
  • 98 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia RPL13 31
  • 96 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Rpl13-ps3 31
  • 95 (a)
 OneToMany
Rpl13 30 17 31
  • 86.89 (n)
 OneToMany
Rpl13-ps6 17
Cow
(Bos Taurus)
 Mammalia RPL13 30 31
  • 90.21 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia RPL13 30 31
  • 89.57 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Rpl13 30
  • 86.1 (n)
Chicken
(Gallus gallus)
 Aves RPL13 30 31
  • 79.94 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia RPL13 31
  • 92 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia rpl13 30
  • 76.94 (n)
MGC75681 30
Zebrafish
(Danio rerio)
 Actinopterygii rpl13 30 31
  • 76.94 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta RpL13 30 31 32
  • 64.84 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001805 30
  • 64.68 (n)
Worm
(Caenorhabditis elegans)
 Secernentea rpl-13 30 31
  • 60.84 (n)
 OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_ADR257C 30
  • 54.55 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0E22001g 30
  • 52.6 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes RPL13B 30 31
  • 51.68 (n)
 OneToMany
RPL13A 31 33
  • 50 (a)
 OneToMany
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT5G23900 30
  • 54.39 (n)
Rice
(Oryza sativa)
 Liliopsida Os03g0576700 30
  • 56.22 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.7858 31
  • 64 (a)
 OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes rpl13 30
  • 58.33 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU05554 30
  • 55.93 (n)
Species where no ortholog for RPL13 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)
  • Barley (Hordeum vulgare)
  • 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 Vase (Ciona intestinalis)
  • 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 RPL13 Gene

ENSEMBL:
Gene Tree for RPL13 (if available)
TreeFam:
Gene Tree for RPL13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RPL13: view image

Paralogs for RPL13 Gene

No data available for Paralogs for RPL13 Gene

Variants for RPL13 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RPL13 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
689800 Pathogenic: Spondyloepimetaphyseal dysplasia; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE 89,562,392(+) G/T SPLICE_DONOR_VARIANT
689801 Pathogenic: Spondyloepimetaphyseal dysplasia; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE 89,562,393(+) T/C SPLICE_DONOR_VARIANT
689802 Pathogenic: Spondyloepimetaphyseal dysplasia; SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE 89,562,392(+) G/A SPLICE_DONOR_VARIANT
689803 Pathogenic: Spondyloepimetaphyseal dysplasia 89,562,954(+) G/T MISSENSE_VARIANT
804147 Pathogenic: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE 89,562,954(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RPL13 Gene

Structural Variations from Database of Genomic Variants (DGV) for RPL13 Gene

Variant ID Type Subtype PubMed ID
esv2715169 CNV deletion 23290073
esv2758670 CNV gain 17122850
esv3639587 CNV loss 21293372
esv3639588 CNV gain 21293372
esv994856 CNV insertion 20482838
nsv1063483 CNV gain 25217958
nsv1066382 CNV gain 25217958
nsv1110707 CNV insertion 24896259
nsv1133225 CNV tandem duplication 24896259
nsv428331 CNV gain+loss 18775914
nsv471118 CNV gain 18288195
nsv482951 CNV loss 15286789
nsv509639 CNV insertion 20534489
nsv573738 CNV loss 21841781

Variation tolerance for RPL13 Gene

Residual Variation Intolerance Score: 32.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.50; 71.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPL13 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPL13

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPL13 Gene

Disorders for RPL13 Gene

MalaCards: The human disease database

(5) MalaCards diseases for RPL13 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RPL13 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RL13_HUMAN
  • Spondyloepimetaphyseal dysplasia, Isidor-Toutain type (SEMDIST) [MIM:618728]: An autosomal dominant bone disease characterized by early postnatal growth deficiency, severe short stature, genu varum, platyspondyly and severe epiphyseal and metaphyseal changes in the lower limbs. {ECO:0000269 PubMed:31630789}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RPL13

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with RPL13: view

No data available for Genatlas for RPL13 Gene

Publications for RPL13 Gene

  1. RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. (PMID: 31630789) Le Caignec C … Isidor B (American journal of human genetics 2019) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. 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
  4. A map of 75 human ribosomal protein genes. (PMID: 9582194) Kenmochi N … Page DC (Genome research 1998) 2 3
  5. Isolation and characterization of a novel gene with differential expression in benign and malignant human breast tumours. (PMID: 1301162) Adams SM … Varley JM (Human molecular genetics 1992) 3 4

ExternalLinks

View latest publications for RPL13 gene in Mastermind

Products for RPL13 Gene