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Aliases for RPUSD2 Gene

Aliases for RPUSD2 Gene

  • RNA Pseudouridylate Synthase Domain Containing 2 2 3 5
  • C15orf19 3 4
  • RNA Pseudouridylate Synthase Domain-Containing Protein 2 3
  • Chromosome 15 Open Reading Frame 19 2
  • C18B11 Homolog (44.9kD) 3
  • C18B11 3

External Ids for RPUSD2 Gene

Previous HGNC Symbols for RPUSD2 Gene

  • C15orf19

Previous GeneCards Identifiers for RPUSD2 Gene

  • GC15P038649
  • GC15P040861
  • GC15P017708

Summaries for RPUSD2 Gene

GeneCards Summary for RPUSD2 Gene

RPUSD2 (RNA Pseudouridylate Synthase Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include pseudouridine synthase activity.

Additional gene information for RPUSD2 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPUSD2 Gene

Genomics for RPUSD2 Gene

GeneHancer (GH) Regulatory Elements for RPUSD2 Gene

Promoters and enhancers for RPUSD2 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
GH15I040568 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.3 332 2.1 HDGF ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 POLR2B E2F8 RPUSD2 CCDC32 RMDN3 THBS1 ENSG00000203573
GH15I040567 Enhancer 0.6 ENCODE 550.8 -2.0 -1976 0.2 CTCF FOXA2 SAP130 FOXA3 ARID4B RAD21 KAT8 CTBP1 FOXK2 NBN RPUSD2 CCDC32
GH15I040592 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11 +25.1 25063 2.9 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC MEF2D TRS-GCT4-2 KNL1 CCDC32 INO80 DNAJC17 ENSG00000259211 BMF RTF1 RMDN3 RAD51-AS1
GH15I040791 Enhancer 1.3 Ensembl ENCODE dbSUPER 9.5 +225.1 225144 5.2 FOXA2 ARID4B FEZF1 BRCA1 YY1 FOS RXRA MIER2 REST PPARG ZFYVE19 RMDN3 CCDC32 C15orf62 SPINT1 GCHFR RAD51 RAD51-AS1 RHOV RPUSD2
GH15I040519 Enhancer 1.1 Ensembl ENCODE 11.2 -49.3 -49289 0.6 HDGF ATF1 ARNT IRF4 ZNF121 ARID2 ZNF143 KLF7 ATF7 RUNX3 CHST14 INO80 RPUSD2 CCDC32 ENSG00000259211 DNAJC17 BAHD1 BMF RPLP0P10 PLCB2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RPUSD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RPUSD2 gene promoter:

Genomic Locations for RPUSD2 Gene

Genomic Locations for RPUSD2 Gene
chr15:40,569,293-40,574,943
(GRCh38/hg38)
Size:
5,651 bases
Orientation:
Plus strand
chr15:40,861,499-40,866,661
(GRCh37/hg19)

Genomic View for RPUSD2 Gene

Genes around RPUSD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RPUSD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RPUSD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPUSD2 Gene

Proteins for RPUSD2 Gene

  • Protein details for RPUSD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZ73-RUSD2_HUMAN
    Recommended name:
    RNA pseudouridylate synthase domain-containing protein 2
    Protein Accession:
    Q8IZ73
    Secondary Accessions:
    • B4DDD1
    • Q7L989
    • Q92939
    • Q96IA7
    • Q96N50

    Protein attributes for RPUSD2 Gene

    Size:
    545 amino acids
    Molecular mass:
    61311 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAB07777.1; Type=Frameshift; Positions=494, 497; Evidence={ECO:0000305};

    Alternative splice isoforms for RPUSD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RPUSD2 Gene

Post-translational modifications for RPUSD2 Gene

No Post-translational modifications

Other Protein References for RPUSD2 Gene

No data available for DME Specific Peptides for RPUSD2 Gene

Domains & Families for RPUSD2 Gene

Gene Families for RPUSD2 Gene

Suggested Antigen Peptide Sequences for RPUSD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q8IZ73

UniProtKB/Swiss-Prot:

RUSD2_HUMAN :
  • Belongs to the pseudouridine synthase RluA family.
Family:
  • Belongs to the pseudouridine synthase RluA family.
genes like me logo Genes that share domains with RPUSD2: view

Function for RPUSD2 Gene

Phenotypes From GWAS Catalog for RPUSD2 Gene

Gene Ontology (GO) - Molecular Function for RPUSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA,IDA 22658674
GO:0009982 pseudouridine synthase activity IBA --
GO:0019239 contributes_to deaminase activity IBA --
genes like me logo Genes that share ontologies with RPUSD2: view

Phenotypes for RPUSD2 Gene

genes like me logo Genes that share phenotypes with RPUSD2: view

Animal Model Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RPUSD2 Gene

Localization for RPUSD2 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 RPUSD2 gene
Compartment Confidence
nucleus 3
cytoskeleton 2
cytosol 2
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for RPUSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with RPUSD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for RPUSD2 Gene

Pathways & Interactions for RPUSD2 Gene

SuperPathways for RPUSD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RPUSD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000455 enzyme-directed rRNA pseudouridine synthesis IBA --
GO:0001522 pseudouridine synthesis IEA --
GO:0008150 biological_process ND --
GO:0009451 RNA modification IEA --
genes like me logo Genes that share ontologies with RPUSD2: view

No data available for Pathways by source and SIGNOR curated interactions for RPUSD2 Gene

Drugs & Compounds for RPUSD2 Gene

(1) Additional Compounds for RPUSD2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • 5-(b-D-Ribofuranosyl)uracil
  • 5-(b-delta-Ribofuranosyl)uracil
  • 5-b-D-Ribofuranosyl-Uracil
  • 5-beta-delta-Ribofuranosyl-Uracil
  • 5-Ribosyluracil
1445-07-4
genes like me logo Genes that share compounds with RPUSD2: view

Transcripts for RPUSD2 Gene

Unigene Clusters for RPUSD2 Gene

RNA pseudouridylate synthase domain containing 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPUSD2 Gene

No ASD Table

Relevant External Links for RPUSD2 Gene

GeneLoc Exon Structure for
RPUSD2
ECgene alternative splicing isoforms for
RPUSD2

Expression for RPUSD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RPUSD2 Gene

Protein differential expression in normal tissues from HIPED for RPUSD2 Gene

This gene is overexpressed in CD8 Tcells (13.0), Lymph node (12.2), Peripheral blood mononuclear cells (11.4), and Testis (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for RPUSD2 Gene



Protein tissue co-expression partners for RPUSD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RPUSD2 Gene:

RPUSD2

SOURCE GeneReport for Unigene cluster for RPUSD2 Gene:

Hs.173311

Evidence on tissue expression from TISSUES for RPUSD2 Gene

  • Lung(4.2)
  • Nervous system(2.7)
genes like me logo Genes that share expression patterns with RPUSD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RPUSD2 Gene

Orthologs for RPUSD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for RPUSD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPUSD2 33 34
  • 99.63 (n)
dog
(Canis familiaris)
Mammalia RPUSD2 33 34
  • 86.12 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RPUSD2 34
  • 86 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPUSD2 33 34
  • 84.51 (n)
mouse
(Mus musculus)
Mammalia Rpusd2 33 16 34
  • 81.98 (n)
oppossum
(Monodelphis domestica)
Mammalia RPUSD2 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves RPUSD2 33 34
  • 75.22 (n)
lizard
(Anolis carolinensis)
Reptilia RPUSD2 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.19049 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.29407 33
zebrafish
(Danio rerio)
Actinopterygii LOC565088 33
  • 61.56 (n)
rpusd2 34
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RluA-2 33 34
  • 53.45 (n)
RluA-1 34
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea K07E8.7 34
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS9 34
  • 34 (a)
OneToMany
RIB2 34 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
-- 34
  • 27 (a)
OneToMany
Species where no ortholog for RPUSD2 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)
  • 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)
  • 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)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPUSD2 Gene

ENSEMBL:
Gene Tree for RPUSD2 (if available)
TreeFam:
Gene Tree for RPUSD2 (if available)

Paralogs for RPUSD2 Gene

No data available for Paralogs for RPUSD2 Gene

Variants for RPUSD2 Gene

Sequence variations from dbSNP and Humsavar for RPUSD2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1001100168 -- 40,572,658(+) G/A intron_variant
rs1001541998 -- 40,571,073(+) A/G intron_variant
rs1001811025 -- 40,568,318(+) G/A/T upstream_transcript_variant
rs1001883335 -- 40,568,568(+) G/C upstream_transcript_variant
rs1002151269 -- 40,574,625(+) G/A/T 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for RPUSD2 Gene

Variant ID Type Subtype PubMed ID
esv2760026 CNV loss 17122850
esv34145 CNV loss 18971310
nsv832984 CNV loss 17160897

Variation tolerance for RPUSD2 Gene

Residual Variation Intolerance Score: 66.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.68; 32.11% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RPUSD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RPUSD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPUSD2 Gene

Disorders for RPUSD2 Gene

Additional Disease Information for RPUSD2

No disorders were found for RPUSD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RPUSD2 Gene

Publications for RPUSD2 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 58
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58

Products for RPUSD2 Gene

Sources for RPUSD2 Gene

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