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Aliases for TSR2 Gene

Aliases for TSR2 Gene

  • TSR2, Ribosome Maturation Factor 2 3
  • TSR2, 20S RRNA Accumulation, Homolog (S. Cerevisiae) 2 5
  • WGG Motif Containing 1 2 3
  • TSR2, 20S RRNA Accumulation, Homolog 3
  • DT1P1A10 3
  • DBA14 3
  • WGG1 3

External Ids for TSR2 Gene

Previous GeneCards Identifiers for TSR2 Gene

  • GC0XP051518

Summaries for TSR2 Gene

GeneCards Summary for TSR2 Gene

TSR2 (TSR2, Ribosome Maturation Factor) is a Protein Coding gene. Diseases associated with TSR2 include Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis and Diamond Blackfan Anemia 15 With Mandibulofacial Dysostosis.

UniProtKB/Swiss-Prot for TSR2 Gene

  • May be involved in 20S pre-rRNA processing.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSR2 Gene

Genomics for TSR2 Gene

Regulatory Elements for TSR2 Gene

Enhancers for TSR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TSR2 on UCSC Golden Path with GeneCards custom track

Promoters for TSR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TSR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TSR2 Gene

Chromosome:
X
Start:
54,440,401 bp from pter
End:
54,445,487 bp from pter
Size:
5,087 bases
Orientation:
Plus strand

Genomic View for TSR2 Gene

Genes around TSR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TSR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TSR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSR2 Gene

Proteins for TSR2 Gene

  • Protein details for TSR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q969E8-TSR2_HUMAN
    Recommended name:
    Pre-rRNA-processing protein TSR2 homolog
    Protein Accession:
    Q969E8

    Protein attributes for TSR2 Gene

    Size:
    191 amino acids
    Molecular mass:
    20894 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TSR2 Gene

Proteomics data for TSR2 Gene at MOPED

Post-translational modifications for TSR2 Gene

  • Ubiquitination at Lys 44
  • Modification sites at PhosphoSitePlus

Other Protein References for TSR2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TSR2 Gene

Domains & Families for TSR2 Gene

Protein Domains for TSR2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TSR2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q969E8

UniProtKB/Swiss-Prot:

TSR2_HUMAN :
  • Belongs to the TSR2 family.
Family:
  • Belongs to the TSR2 family.
genes like me logo Genes that share domains with TSR2: view

No data available for Gene Families for TSR2 Gene

Function for TSR2 Gene

Molecular function for TSR2 Gene

UniProtKB/Swiss-Prot Function:
May be involved in 20S pre-rRNA processing.

Phenotypes for TSR2 Gene

genes like me logo Genes that share phenotypes with TSR2: view

Human Phenotype Ontology for TSR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for TSR2 Gene

miRTarBase miRNAs that target TSR2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for TSR2 Gene

Localization for TSR2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TSR2 Gene COMPARTMENTS Subcellular localization image for TSR2 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for TSR2 Gene

Pathways & Interactions for TSR2 Gene

SuperPathways for TSR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSR2 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for TSR2 Gene

Drugs & Compounds for TSR2 Gene

No Compound Related Data Available

Transcripts for TSR2 Gene

mRNA/cDNA for TSR2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(155) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TSR2 Gene

TSR2, 20S rRNA accumulation, homolog (S. cerevisiae):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TSR2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b
SP1: -
SP2: - -
SP3:
SP4: - -

Relevant External Links for TSR2 Gene

GeneLoc Exon Structure for
TSR2
ECgene alternative splicing isoforms for
TSR2

Expression for TSR2 Gene

mRNA expression in normal human tissues for TSR2 Gene

Protein differential expression in normal tissues from HIPED for TSR2 Gene

This gene is overexpressed in Heart (24.0), Breast (15.4), Pancreas (6.3), and Bone (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TSR2 Gene



SOURCE GeneReport for Unigene cluster for TSR2 Gene Hs.522662

genes like me logo Genes that share expression patterns with TSR2: view

Primer Products

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 Protein tissue co-expression partners for TSR2 Gene

Orthologs for TSR2 Gene

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

Orthologs for TSR2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia TSR2 35
  • 88.77 (n)
  • 87.89 (a)
-- 36
  • 70 (a)
OneToMany
TSR2 36
  • 87 (a)
OneToMany
dog
(Canis familiaris)
Mammalia TSR2 35
  • 89.07 (n)
  • 88.36 (a)
TSR2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tsr2 35
  • 85.69 (n)
  • 85.86 (a)
Tsr2 16
Tsr2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TSR2 35
  • 98.87 (n)
  • 96.61 (a)
rat
(Rattus norvegicus)
Mammalia Tsr2 35
  • 86.74 (n)
  • 86.91 (a)
oppossum
(Monodelphis domestica)
Mammalia TSR2 36
  • 46 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSR2 36
  • 67 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSR2 36
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsr2 35
  • 57.97 (n)
  • 44.57 (a)
zebrafish
(Danio rerio)
Actinopterygii dt1p1a10l 35
tsr2 35
  • 55.86 (n)
  • 46.15 (a)
tsr2 36
  • 43 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSR2 38
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 28 (a)
OneToOne
Species with no ortholog for TSR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for TSR2 Gene

ENSEMBL:
Gene Tree for TSR2 (if available)
TreeFam:
Gene Tree for TSR2 (if available)

Paralogs for TSR2 Gene

No data available for Paralogs for TSR2 Gene

Variants for TSR2 Gene

Sequence variations from dbSNP and Humsavar for TSR2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_073396 Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14)
rs747761245 -- 54,442,681(+) AAGCC(C/G)AGAGA intron-variant
rs747816105 -- 54,441,735(+) TGTGC(A/G)TGGGG intron-variant
rs747886282 -- 54,439,320(+) AAATC(C/T)ATGGA upstream-variant-2KB
rs748218636 -- 54,444,580(+) GGGCC(C/G)TTATT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TSR2 Gene

Variant ID Type Subtype PubMed ID
nsv435891 CNV Deletion 17901297
esv2740175 CNV Deletion 23290073

Variation tolerance for TSR2 Gene

Residual Variation Intolerance Score: 49.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.33; 7.27% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TSR2 Gene

Human Gene Mutation Database (HGMD)
TSR2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TSR2 Gene

Disorders for TSR2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for TSR2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
diamond-blackfan anemia 14 with mandibulofacial dysostosis
  • diamond-blackfan anemia 14, with mandibulofacial dysostosis
diamond blackfan anemia 15 with mandibulofacial dysostosis
  • diamond-blackfan anemia 15, with mandibulofacial dysostosis
diamond-blackfan anemia
  • blackfan - diamond syndrome
oromandibular dystonia
dysostosis
  • dysostoses
- elite association - COSMIC cancer census association via MalaCards
Search TSR2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TSR2_HUMAN
  • Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14) [MIM:300946]: 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.

Relevant External Links for TSR2

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TSR2
genes like me logo Genes that share disorders with TSR2: view

No data available for Genatlas for TSR2 Gene

Publications for TSR2 Gene

  1. Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28. (PMID: 24942156) Gripp K.W. … Sol-Church K. (Am. J. Med. Genet. A 2014) 3 4 67
  2. Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method. (PMID: 9417904) Reddy P.H. … Tagle D.A. (Genomics 1997) 2 3
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. The novel protein TSR2 inhibits the transcriptional activity of nuclear factor-kappaB and induces apoptosis. (PMID: 21790011) He H. … Jia S. (Mol. Biol. (Mosk.) 2011) 3

Products for TSR2 Gene

Sources for TSR2 Gene

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