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Aliases for TSR2 Gene

Aliases for TSR2 Gene

  • TSR2, Ribosome Maturation Factor 2 3 5
  • WGG Motif Containing 1 2 3
  • TSR2, 20S RRNA Accumulation, Homolog (S. Cerevisiae) 2
  • Pre-RRNA-Processing Protein TSR2 Homolog 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

Entrez Gene Summary for TSR2 Gene

  • The protein encoded by this gene appears to repress the transcription of NF-kappaB and may be involved in apoptosis. Defects in this gene are a cause of Diamond-Blackfan anemia. [provided by RefSeq, Oct 2016]

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.

Additional gene information for TSR2 Gene

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

Genomics for TSR2 Gene

GeneHancer (GH) Regulatory Elements for TSR2 Gene

Promoters and enhancers for TSR2 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
GH0XI054439 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 200 2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF143 TSR2 GNL3L PHF8 HUWE1 PIR39642 GC0XM054327
GH0XI054177 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE 11.7 -259.7 -259700 6.9 ARID4B SIN3A DMAP1 ZNF2 YY1 GLIS2 ZNF143 FOS RUNX3 DEK FAM120C TSR2 ENSG00000233250 RPL37P24
GH0XI054481 Enhancer 0.9 Ensembl ENCODE 16.7 +43.2 43156 3.6 CTCF KLF1 USF1 MLX ZSCAN4 ZMYM3 NFXL1 ZKSCAN1 ZFHX2 EGR1 GNL3L TSR2 FGD1 PIR39642 GC0XM054327
GH0XI054474 Enhancer 0.2 ENCODE 12.4 +34.3 34265 0.9 FGD1 TSR2 GNL3L PIR39642 GC0XM054327
GH0XI054509 Enhancer 0.2 ENCODE 4.6 +69.2 69161 1 GNL3L TSR2 FGD1 GC0XM054327
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TSR2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TSR2 gene promoter:

Genomic Locations for TSR2 Gene

Genomic Locations for TSR2 Gene
chrX:54,440,401-54,445,487
(GRCh38/hg38)
Size:
5,087 bases
Orientation:
Plus strand
chrX:54,466,834-54,471,920
(GRCh37/hg19)

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

Post-translational modifications for TSR2 Gene

Other Protein References for TSR2 Gene

No data available for DME Specific Peptides for TSR2 Gene

Domains & Families for TSR2 Gene

Gene Families for TSR2 Gene

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

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

Function for TSR2 Gene

Molecular function for TSR2 Gene

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

Gene Ontology (GO) - Molecular Function for TSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with TSR2: view

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

CRISPR Products

miRNA for TSR2 Gene

miRTarBase miRNAs that target TSR2

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for TSR2 Gene

Localization for TSR2 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 TSR2 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
genes like me logo Genes that share ontologies with TSR2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TSR2 Gene

Pathways & Interactions for TSR2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TSR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA --
GO:0006364 rRNA processing IEA --
genes like me logo Genes that share ontologies with TSR2: view

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

Unigene Clusters for TSR2 Gene

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

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for TSR2 Gene



NURSA nuclear receptor signaling pathways regulating expression of TSR2 Gene:

TSR2

SOURCE GeneReport for Unigene cluster for TSR2 Gene:

Hs.522662

Evidence on tissue expression from TISSUES for TSR2 Gene

  • Skin(4.2)
  • Nervous system(2.9)
  • Kidney(2)
  • Spleen(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TSR2 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 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 , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia TSR2 33
  • 98.87 (n)
dog
(Canis familiaris)
Mammalia TSR2 33 34
  • 89.07 (n)
cow
(Bos Taurus)
Mammalia TSR2 33 34
  • 88.77 (n)
-- 34
  • 70 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tsr2 33
  • 86.74 (n)
mouse
(Mus musculus)
Mammalia Tsr2 33 16 34
  • 85.69 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TSR2 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSR2 34
  • 46 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSR2 34
  • 51 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tsr2 33
  • 57.97 (n)
zebrafish
(Danio rerio)
Actinopterygii tsr2 33 34
  • 55.86 (n)
dt1p1a10l 33
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TSR2 36
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 28 (a)
OneToOne
Species where no ortholog for TSR2 was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs786203996 pathogenic, Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, Diamond-Blackfan anemia 14, with mandibulofacial dysostosis (DBA14) [MIM:300946] 54,443,418(+) A/G coding_sequence_variant, missense_variant
rs1000031569 -- 54,445,097(+) C/A 3_prime_UTR_variant
rs1000764524 -- 54,439,395(+) C/T upstream_transcript_variant
rs1001196025 -- 54,441,112(+) T/C intron_variant
rs1001593369 -- 54,439,758(+) G/C upstream_transcript_variant

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)

Additional Variant Information for TSR2 Gene

Human Gene Mutation Database (HGMD)
TSR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TSR2

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

Disorders for TSR2 Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for 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 KW … Sol-Church K (American journal of medical genetics. Part A 2014) 3 4 58
  2. Mapping and characterization of novel (CAG)n repeat cDNAs from adult human brain derived by the oligo capture method. (PMID: 9417904) Reddy PH … Tagle DA (Genomics 1997) 2 3 58
  3. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C … Emili A (Nature 2015) 3 58
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  5. Initial characterization of the human central proteome. (PMID: 21269460) Burkard TR … Colinge J (BMC systems biology 2011) 4 58

Products for TSR2 Gene

Sources for TSR2 Gene

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