Aliases for EXOSC2 Gene

Aliases for EXOSC2 Gene

  • Exosome Component 2 2 3 4 5
  • RRP4 2 3 4
  • Homolog Of Yeast RRP4 (Ribosomal RNA Processing 4), 3' 5' Exoribonuclease (RRP4) 2 3
  • Ribosomal RNA-Processing Protein 4 3 4
  • Exosome Complex Component RRP4 3 4
  • HRrp4p 2 3
  • Rrp4p 2 3
  • P7 2 3
  • Homolog Of Yeast RRP4 (Ribosomal RNA Processing 4), 3'-5'-Exoribonuclease 3
  • Exosome Complex Exonuclease RRP4 3
  • EXOSC2 5
  • SHRF 3

External Ids for EXOSC2 Gene

Previous GeneCards Identifiers for EXOSC2 Gene

  • GC09P128846
  • GC09P130598
  • GC09P132558
  • GC09P133569
  • GC09P103055

Summaries for EXOSC2 Gene

GeneCards Summary for EXOSC2 Gene

EXOSC2 (Exosome Component 2) is a Protein Coding gene. Diseases associated with EXOSC2 include Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies and Premature Aging. Among its related pathways are rRNA processing in the nucleus and cytosol and Regulation of activated PAK-2p34 by proteasome mediated degradation. Gene Ontology (GO) annotations related to this gene include RNA binding and exoribonuclease activity. An important paralog of this gene is EXOSC3.

UniProtKB/Swiss-Prot Summary for EXOSC2 Gene

  • Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7.

Gene Wiki entry for EXOSC2 Gene

Additional gene information for EXOSC2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EXOSC2 Gene

Genomics for EXOSC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EXOSC2 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
GH09J130692 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 606.6 0.0 -13 3.4 SP1 CREB1 GATAD2A CTCF ZBTB33 PRDM10 ZNF629 TFE3 SIX5 NFKBIZ EXOSC2 lnc-QRFP-7 lnc-EXOSC2-4 RF00017-7999 PRDM12
GH09J129756 Enhancer 1.1 FANTOM5 Ensembl 52.7 -936.1 -936120 3.2 PRDM10 ZNF629 ZNF512 RFX1 LEF1 IKZF1 MTA2 PKNOX1 MTA1 ZNF24 piR-35674-546 EXOSC2 NUP188 SPOUT1 FUBP3 ENSG00000267834 ABL1 TOR1B DOLK PTGES
GH09J131503 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 24.4 +809.6 809580 2.6 GATAD2A PRDM10 TFE3 IKZF1 NFKBIZ KDM1A ZNF692 POLR2A BACH1 ZHX2 POMT1 lnc-UCK1-2 SETX EXOSC2 PRRC2B ENSG00000246851 FUBP3 TTF1 NUP214 ABL1
GH09J130444 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 23.1 -245.3 -245259 8.5 CEBPG HNRNPL CREB1 GATAD2A CTCF ZBTB33 ATF7 PRDM10 REST TFE3 ASS1 SNODB1213 NUP214 EXOSC2 ENSG00000246851 FUBP3 TOR1B ENSG00000236986
GH09J129860 Enhancer 1.1 ENCODE dbSUPER 44.1 -829.5 -829526 7.2 CTCF ZBTB33 SIX5 LEF1 IKZF1 ETV6 JUND DDX20 MTA2 ZIC2 EXOSC2 NUP188 FUBP3 C9orf78 USP20 ABL1 ASB6 TOR1A TOR1B MIR6855
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EXOSC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EXOSC2

Top Transcription factor binding sites by QIAGEN in the EXOSC2 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • c-Myb
  • Egr-2
  • ER-alpha
  • FOXO4
  • LCR-F1
  • STAT1
  • STAT3

Genomic Locations for EXOSC2 Gene

Genomic Locations for EXOSC2 Gene
chr9:130,693,721-130,704,894
(GRCh38/hg38)
Size:
11,174 bases
Orientation:
Plus strand
chr9:133,569,108-133,580,452
(GRCh37/hg19)
Size:
11,345 bases
Orientation:
Plus strand

Genomic View for EXOSC2 Gene

Genes around EXOSC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EXOSC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EXOSC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EXOSC2 Gene

Proteins for EXOSC2 Gene

  • Protein details for EXOSC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13868-EXOS2_HUMAN
    Recommended name:
    Exosome complex component RRP4
    Protein Accession:
    Q13868
    Secondary Accessions:
    • A3KFL3
    • A3KFL4
    • B4DKK6
    • Q9NUY4

    Protein attributes for EXOSC2 Gene

    Size:
    293 amino acids
    Molecular mass:
    32789 Da
    Quaternary structure:
    • Component of the RNA exosome complex (PubMed:29906447). Specifically part of the catalytically inactive RNA exosome core (Exo-9) complex which is believed to associate with catalytic subunits EXOSC10, and DIS3 or DIS3L in cytoplasmic- and nuclear-specific RNA exosome complex forms (PubMed:11719186, PubMed:20531389, PubMed:26166824). Exo-9 is formed by a hexameric ring of RNase PH domain-containing subunits specifically containing the heterodimers EXOSC4-EXOSC9, EXOSC5-EXOSC8 and EXOSC6-EXOSC7, and peripheral S1 domain-containing components EXOSC1, EXOSC2 and EXOSC3 located on the top of the ring structure (PubMed:11719186, PubMed:20531389). Interacts with DIS3 (PubMed:20531389). Interacts with GTPBP1 (PubMed:21515746). Interacts with ZFP36L1 (via N-terminus) (PubMed:15687258).
    SequenceCaution:
    • Sequence=AAB60392.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EXOSC2 Gene

    Alternative splice isoforms for EXOSC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EXOSC2 Gene

Post-translational modifications for EXOSC2 Gene

  • Ubiquitination at Lys24 and Lys180
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for EXOSC2
  • Boster Bio Antibodies for EXOSC2

No data available for DME Specific Peptides for EXOSC2 Gene

Domains & Families for EXOSC2 Gene

Gene Families for EXOSC2 Gene

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

Protein Domains for EXOSC2 Gene

Suggested Antigen Peptide Sequences for EXOSC2 Gene

GenScript: Design optimal peptide antigens:
  • EXOSC2 protein (A2VCR1_HUMAN)
  • cDNA FLJ52512, highly similar to Exosome complex exonuclease RRP4 (EC 3.1.13.-) (B4DKK6_HUMAN)
  • Ribosomal RNA-processing protein 4 (EXOS2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13868

UniProtKB/Swiss-Prot:

EXOS2_HUMAN :
  • Belongs to the RRP4 family.
Family:
  • Belongs to the RRP4 family.
genes like me logo Genes that share domains with EXOSC2: view

Function for EXOSC2 Gene

Molecular function for EXOSC2 Gene

UniProtKB/Swiss-Prot Function:
Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7.

Phenotypes From GWAS Catalog for EXOSC2 Gene

Gene Ontology (GO) - Molecular Function for EXOSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000175 3'-5'-exoribonuclease activity TAS 8600032
GO:0003723 RNA binding IBA 21873635
GO:0004532 NOT exoribonuclease activity IDA 17174896
GO:0005515 protein binding IPI 11719186
GO:0008312 7S RNA binding TAS 8600032
genes like me logo Genes that share ontologies with EXOSC2: view
genes like me logo Genes that share phenotypes with EXOSC2: view

Human Phenotype Ontology for EXOSC2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for EXOSC2 Gene

miRTarBase miRNAs that target EXOSC2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EXOSC2

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for EXOSC2 Gene

Localization for EXOSC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EXOSC2 Gene

Cytoplasm. Nucleus, nucleolus. Nucleus.

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 EXOSC2 gene
Compartment Confidence
nucleus 5
cytosol 4
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EXOSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000176 nuclear exosome (RNase complex) IBA,IDA 26166824
GO:0000177 cytoplasmic exosome (RNase complex) IBA 21873635
GO:0000178 exosome (RNase complex) IBA,IDA 12419256
GO:0005634 nucleus TAS,IDA 17545563
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with EXOSC2: view

Pathways & Interactions for EXOSC2 Gene

genes like me logo Genes that share pathways with EXOSC2: view

Pathways by source for EXOSC2 Gene

1 GeneGo (Thomson Reuters) pathway for EXOSC2 Gene
  • ATP/ITP metabolism

Gene Ontology (GO) - Biological Process for EXOSC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000467 exonucleolytic trimming to generate mature 3'-end of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0006364 rRNA processing TAS --
GO:0030307 positive regulation of cell growth IMP 17545563
GO:0034427 nuclear-transcribed mRNA catabolic process, exonucleolytic, 3'-5' IBA 21873635
GO:0034475 U4 snRNA 3'-end processing IBA 21873635
genes like me logo Genes that share ontologies with EXOSC2: view

No data available for SIGNOR curated interactions for EXOSC2 Gene

Drugs & Compounds for EXOSC2 Gene

No Compound Related Data Available

Transcripts for EXOSC2 Gene

mRNA/cDNA for EXOSC2 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
11 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 EXOSC2

Alternative Splicing Database (ASD) splice patterns (SP) for EXOSC2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c
SP1: - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - - - -
SP5: - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - - - - - - -
SP8: -
SP9:
SP10:
SP11: -
SP12: - - - - - - -

Relevant External Links for EXOSC2 Gene

GeneLoc Exon Structure for
EXOSC2

Expression for EXOSC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for EXOSC2 Gene

Protein differential expression in normal tissues from HIPED for EXOSC2 Gene

This gene is overexpressed in Pancreas (7.7) and Lymph node (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EXOSC2 Gene



Protein tissue co-expression partners for EXOSC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EXOSC2

SOURCE GeneReport for Unigene cluster for EXOSC2 Gene:

Hs.654643

Evidence on tissue expression from TISSUES for EXOSC2 Gene

  • Lung(4.4)
  • Intestine(4.2)
  • Nervous system(3.6)
  • Muscle(2.2)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with EXOSC2: 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 EXOSC2 Gene

Orthologs for EXOSC2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EXOSC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EXOSC2 30 31
  • 99.77 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia EXOSC2 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia EXOSC2 30 31
  • 91.7 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EXOSC2 30 31
  • 90.07 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Exosc2 30 17 31
  • 87.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Exosc2 30
  • 86.23 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia EXOSC2 31
  • 85 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EXOSC2 30 31
  • 76.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EXOSC2 31
  • 85 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia exosc2 30
  • 70.19 (n)
Str.5017 30
Zebrafish
(Danio rerio)
Actinopterygii exosc2 30 31
  • 71.22 (n)
OneToOne
wufa97b01 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.183 30
Fruit Fly
(Drosophila melanogaster)
Insecta Rrp4 30 31
  • 62.99 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011211 30
  • 61.64 (n)
Worm
(Caenorhabditis elegans)
Secernentea exos-2 30 31
  • 49.75 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E12739g 30
  • 52.16 (n)
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL034C 30
  • 51.24 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RRP4 30 31 33
  • 51.03 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RRP4 30
  • 56.26 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0520000 30
  • 52.1 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 63 (a)
OneToOne
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAC2F7.14c 30
  • 53.63 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU04009 30
  • 49.93 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.8392 30
Species where no ortholog for EXOSC2 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)
  • 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)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for EXOSC2 Gene

ENSEMBL:
Gene Tree for EXOSC2 (if available)
TreeFam:
Gene Tree for EXOSC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for EXOSC2: view image

Paralogs for EXOSC2 Gene

Paralogs for EXOSC2 Gene

genes like me logo Genes that share paralogs with EXOSC2: view

Variants for EXOSC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EXOSC2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
728673 Likely Benign: not provided 130,698,201(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT
765042 Likely Benign: not provided 130,693,807(+) A/C NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
778382 Benign: not provided 130,693,813(+) C/G MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
779928 Benign: not provided 130,700,869(+) T/C SYNONYMOUS_VARIANT,INTRON_VARIANT
835783 Uncertain Significance: not provided 130,695,564(+) G/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT

Additional dbSNP identifiers (rs#s) for EXOSC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for EXOSC2 Gene

Variant ID Type Subtype PubMed ID
esv3621866 CNV gain 21293372
nsv825122 CNV gain 20364138
nsv831735 CNV loss 17160897

Variation tolerance for EXOSC2 Gene

Residual Variation Intolerance Score: 29% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.91; 35.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EXOSC2 Gene

Human Gene Mutation Database (HGMD)
EXOSC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EXOSC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EXOSC2 Gene

Disorders for EXOSC2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for EXOSC2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

EXOS2_HUMAN
  • Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763]: An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature ageing and mild intellectual disability. {ECO:0000269 PubMed:26843489}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EXOSC2

genes like me logo Genes that share disorders with EXOSC2: view

No data available for Genatlas for EXOSC2 Gene

Publications for EXOSC2 Gene

  1. The exosome: a conserved eukaryotic RNA processing complex containing multiple 3'-->5' exoribonucleases. (PMID: 9390555) Mitchell P … Tollervey D (Cell 1997) 3 4 23
  2. The 3' end of yeast 5.8S rRNA is generated by an exonuclease processing mechanism. (PMID: 8600032) Mitchell P … Tollervey D (Genes & development 1996) 2 3 4
  3. Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. (PMID: 26843489) Di Donato N … Rump A (Journal of medical genetics 2016) 3 4
  4. NVL2, a nucleolar AAA-ATPase, is associated with the nuclear exosome and is involved in pre-rRNA processing. (PMID: 26166824) Yoshikatsu Y … Nagahama M (Biochemical and biophysical research communications 2015) 3 4
  5. Dis3-like 1: a novel exoribonuclease associated with the human exosome. (PMID: 20531389) Staals RH … Pruijn GJ (The EMBO journal 2010) 3 4

Products for EXOSC2 Gene

  • Signalway ELISA kits for EXOSC2

Sources for EXOSC2 Gene